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    DYSF dysferlin [ Homo sapiens (human) ]

    Gene ID: 8291, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DYSFprovided by HGNC
    Official Full Name
    dysferlinprovided by HGNC
    Primary source
    HGNC:HGNC:3097
    See related
    Ensembl:ENSG00000135636 MIM:603009; AllianceGenome:HGNC:3097
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MMD1; FER1L1; LGMD2B; LGMDR2
    Summary
    The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
    Expression
    Broad expression in spleen (RPKM 14.1), placenta (RPKM 13.8) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DYSF in Genome Data Viewer
    Location:
    2p13.2
    Exon count:
    58
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (71453561..71686763)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (71464487..71699459)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71680691..71913893)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16018 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71558505-71559192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71559193-71559878 Neighboring gene Sharpr-MPRA regulatory region 7735 Neighboring gene zinc finger protein 638 Neighboring gene RNA, U6 small nuclear 105, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71643743-71644372 Neighboring gene Sharpr-MPRA regulatory region 6666 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71672359-71672860 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:71678052-71678238 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71680549-71681398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71681399-71682247 Neighboring gene VISTA enhancer hs2170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71727399-71728077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71730437-71730936 Neighboring gene Sharpr-MPRA regulatory region 7639 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71733683-71734184 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:71734185-71734684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71739143-71739642 Neighboring gene NANOG hESC enhancer GRCh37_chr2:71754884-71755402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16019 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71780379-71780878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71779877-71780378 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71787253-71787780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71813506-71814014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71814015-71814523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71815560-71816140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71821207-71821706 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71825151-71825652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:71825653-71826152 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:71829831-71831030 Neighboring gene VISTA enhancer hs1479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71920591-71921090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:71921091-71922090 Neighboring gene uncharacterized LOC124907827 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72018477-72019464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72021448-72022059 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:72057331-72058530 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72070213-72070395 Neighboring gene Sharpr-MPRA regulatory region 1897 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:72107588-72108787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72120471-72120972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72120973-72121472 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:72124986-72125167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72157000-72157500 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:72159067-72159946 Neighboring gene ribosomal protein S20 pseudogene 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Dysferlinopathy in Chile: evidence of two novel mutations in the first reported cases. Bevilacqua JA, et al. Genet Test Mol Biomarkers, 2009 Feb. PMID 19309282
    2. Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51. Santos R, et al. J Hum Genet, 2010 Aug. PMID 20535123
    3. Dysferlin overexpression in skeletal muscle produces a progressive myopathy. Glover LE, et al. Ann Neurol, 2010 Mar. PMID 20373350, Free PMC Article
    4. Dysferlinopathy. Adam MP, et al. , 1993. PMID 20301480
    5. Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. Krahn M, et al. Genet Test Mol Biomarkers, 2010 Feb. PMID 19929428

    See all (171) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy.
      Title: Dysferlin Enables Tubular Membrane Proliferation in Cardiac Hypertrophy.
    2. Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
      Title: Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
    3. Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.
      Title: Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.
    4. Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
      Title: Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
    5. DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene.
      Title: DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene.
    6. Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
      Title: Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.
    7. Null variants in DYSF result in earlier symptom onset.
      Title: Null variants in DYSF result in earlier symptom onset.
    8. Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.
      Title: Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.
    9. The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
      Title: The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
    10. Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
      Title: Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
    Submit: New GeneRIF Correction See all GeneRIFs (133)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of dysferlin, limb girdle muscular dystrophy 2B (DYSF) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of dysferlin (DYSF) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00175, FLJ90168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium-dependent phospholipid binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within macrophage activation involved in immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within monocyte activation involved in immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of neurotransmitter secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in late endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dysferlin
    Names
    dystrophy-associated fer-1-like 1
    fer-1-like family member 1
    fer-1-like protein 1
    limb girdle muscular dystrophy 2B (autosomal recessive)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008694.1 RefSeqGene

      Range
      4939..238141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_845

    mRNA and Protein(s)

    1. NM_001130455.2 → NP_001123927.1  dysferlin isoform 2

      See identical proteins and their annotated locations for NP_001123927.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AC104084, AF075575, DB292971, DQ267935
      Consensus CDS
      CCDS46331.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000377678.2, ENST00000394120.6
      Conserved Domains (11) summary
      cd04011
      Location:218 → 327
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1153 → 1281
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381 → 555
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1580 → 1703
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1814 → 1945
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:788 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:325 → 375
      FerI; FerI (NUC094) domain
      pfam08165
      Location:699 → 756
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1958 → 2044
      Ferlin_C; Ferlin C-terminus

    2. NM_001130976.2 → NP_001124448.1  dysferlin isoform 9

      See identical proteins and their annotated locations for NP_001124448.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (9) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AC104084, AI128455, AI192657, AK074649, DB292971, EU515156
      UniProtKB/Swiss-Prot
      O75923
      Conserved Domains (11) summary
      cd04011
      Location:217 → 326
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1138 → 1266
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380 → 540
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1565 → 1688
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1799 → 1930
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:932 → 988
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:773 → 845
      FerB; FerB (NUC096) domain
      pfam08151
      Location:324 → 374
      FerI; FerI (NUC094) domain
      pfam08165
      Location:684 → 741
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1943 → 2029
      Ferlin_C; Ferlin C-terminus

    3. NM_001130977.2 → NP_001124449.1  dysferlin isoform 10

      See identical proteins and their annotated locations for NP_001124449.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (10) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AC104084, AI192657, AI739271, AK074649, DB292971, EU515159
      UniProtKB/Swiss-Prot
      O75923
      Conserved Domains (11) summary
      cd04011
      Location:217 → 326
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1138 → 1266
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380 → 540
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1586 → 1709
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1820 → 1951
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:932 → 988
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:773 → 845
      FerB; FerB (NUC096) domain
      pfam08151
      Location:324 → 374
      FerI; FerI (NUC094) domain
      pfam08165
      Location:684 → 741
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1964 → 2050
      Ferlin_C; Ferlin C-terminus

    4. NM_001130978.2 → NP_001124450.1  dysferlin isoform 11

      See identical proteins and their annotated locations for NP_001124450.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (11) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AC104084, AI128455, AI192657, AK074649, DB292971, EU515157
      Consensus CDS
      CCDS46326.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000398305.2, ENST00000429174.6
      Conserved Domains (12) summary
      cd04011
      Location:217 → 326
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1152 → 1280
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380 → 554
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1600 → 1723
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1834 → 1965
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:946 → 1002
      DysFN; Dysferlin domain, N-terminal region
      COG5038
      Location:1173 → 1433
      COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
      pfam08150
      Location:786 → 859
      FerB; FerB (NUC096) domain
      pfam08151
      Location:324 → 374
      FerI; FerI (NUC094) domain
      pfam08165
      Location:695 → 759
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1978 → 2066
      Ferlin_C; Ferlin C-terminus

    5. NM_001130979.2 → NP_001124451.1  dysferlin isoform 12

      See identical proteins and their annotated locations for NP_001124451.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (12) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AC104084, AI128455, AI192657, AK074649, DB292971, EU515155
      Consensus CDS
      CCDS46323.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000407046.2, ENST00000413539.6
      Conserved Domains (12) summary
      cd04011
      Location:248 → 357
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1183 → 1311
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411 → 585
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1610 → 1733
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1844 → 1975
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:977 → 1033
      DysFN; Dysferlin domain, N-terminal region
      COG5038
      Location:1204 → 1464
      COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
      pfam08150
      Location:817 → 890
      FerB; FerB (NUC096) domain
      pfam08151
      Location:355 → 405
      FerI; FerI (NUC094) domain
      pfam08165
      Location:726 → 790
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1988 → 2076
      Ferlin_C; Ferlin C-terminus

    6. NM_001130980.2 → NP_001124452.1  dysferlin isoform 13

      See identical proteins and their annotated locations for NP_001124452.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (13) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AC104084, AI128455, AI192657, AK074649, DB292971, EU515158
      Consensus CDS
      CCDS46325.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000387137.1, ENST00000409762.5
      Conserved Domains (12) summary
      cd04011
      Location:248 → 357
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1169 → 1297
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411 → 571
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1596 → 1719
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1830 → 1961
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:963 → 1019
      DysFN; Dysferlin domain, N-terminal region
      COG5038
      Location:1190 → 1450
      COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
      pfam08150
      Location:803 → 876
      FerB; FerB (NUC096) domain
      pfam08151
      Location:355 → 405
      FerI; FerI (NUC094) domain
      pfam08165
      Location:712 → 776
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1974 → 2062
      Ferlin_C; Ferlin C-terminus

    7. NM_001130981.2 → NP_001124453.1  dysferlin isoform 14

      See identical proteins and their annotated locations for NP_001124453.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (14) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AC104084, AI128455, AI192657, AK074649, DB292971, EU515160
      Consensus CDS
      CCDS46324.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386547.3, ENST00000409582.7
      Conserved Domains (12) summary
      cd04011
      Location:248 → 357
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1169 → 1297
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411 → 571
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1617 → 1740
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1851 → 1982
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:963 → 1019
      DysFN; Dysferlin domain, N-terminal region
      COG5038
      Location:1190 → 1450
      COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
      pfam08150
      Location:803 → 876
      FerB; FerB (NUC096) domain
      pfam08151
      Location:355 → 405
      FerI; FerI (NUC094) domain
      pfam08165
      Location:712 → 776
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1995 → 2083
      Ferlin_C; Ferlin C-terminus

    8. NM_001130982.2 → NP_001124454.1  dysferlin isoform 7

      See identical proteins and their annotated locations for NP_001124454.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 7 which is shorter than isoform 1.
      Source sequence(s)
      AC104084, AF075575, DB292971, EU515161
      Consensus CDS
      CCDS46327.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386683.1, ENST00000409651.5
      Conserved Domains (12) summary
      cd04011
      Location:249 → 358
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1184 → 1312
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412 → 586
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1611 → 1734
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1845 → 1976
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:978 → 1034
      DysFN; Dysferlin domain, N-terminal region
      COG5038
      Location:1205 → 1465
      COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
      pfam08150
      Location:818 → 891
      FerB; FerB (NUC096) domain
      pfam08151
      Location:356 → 406
      FerI; FerI (NUC094) domain
      pfam08165
      Location:727 → 791
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1989 → 2077
      Ferlin_C; Ferlin C-terminus

    9. NM_001130983.2 → NP_001124455.1  dysferlin isoform 6

      See identical proteins and their annotated locations for NP_001124455.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 6 which is shorter than isoform 1.
      Source sequence(s)
      AC104084, AF075575, AK074649, DB292971, EU515157, EU515163
      Consensus CDS
      CCDS46330.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386512.1, ENST00000409366.5
      Conserved Domains (11) summary
      cd04011
      Location:218 → 327
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1153 → 1281
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381 → 555
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1601 → 1724
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1835 → 1966
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:788 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:325 → 375
      FerI; FerI (NUC094) domain
      pfam08165
      Location:699 → 756
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1979 → 2065
      Ferlin_C; Ferlin C-terminus

    10. NM_001130984.2 → NP_001124456.1  dysferlin isoform 5

      See identical proteins and their annotated locations for NP_001124456.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 5 which is shorter than isoform 1.
      Source sequence(s)
      AC104084, AF075575, AK074649, DB292971, EU515157, EU515165
      Consensus CDS
      CCDS46332.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386285.1, ENST00000409744.5
      Conserved Domains (12) summary
      cd04011
      Location:218 → 327
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1139 → 1267
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381 → 541
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1587 → 1710
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1821 → 1952
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:933 → 989
      DysFN; Dysferlin domain, N-terminal region
      COG5038
      Location:1160 → 1420
      COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
      pfam08150
      Location:773 → 846
      FerB; FerB (NUC096) domain
      pfam08151
      Location:325 → 375
      FerI; FerI (NUC094) domain
      pfam08165
      Location:682 → 746
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1965 → 2053
      Ferlin_C; Ferlin C-terminus

    11. NM_001130985.2 → NP_001124457.1  dysferlin isoform 4

      See identical proteins and their annotated locations for NP_001124457.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4 which is shorter than isoform 1.
      Source sequence(s)
      AC104084, AF075575, DB292971, EU515164
      Consensus CDS
      CCDS46329.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386617.1, ENST00000410041.1
      Conserved Domains (12) summary
      cd04011
      Location:249 → 358
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1170 → 1298
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412 → 572
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1597 → 1720
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1831 → 1962
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:964 → 1020
      DysFN; Dysferlin domain, N-terminal region
      COG5038
      Location:1191 → 1451
      COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
      pfam08150
      Location:804 → 877
      FerB; FerB (NUC096) domain
      pfam08151
      Location:356 → 406
      FerI; FerI (NUC094) domain
      pfam08165
      Location:713 → 777
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1975 → 2063
      Ferlin_C; Ferlin C-terminus

    12. NM_001130986.2 → NP_001124458.1  dysferlin isoform 3

      See identical proteins and their annotated locations for NP_001124458.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3 which is shorter than isoform 1.
      Source sequence(s)
      AC104084, AF075575, DB292971, EU515162
      UniProtKB/Swiss-Prot
      O75923
      Conserved Domains (11) summary
      cd04011
      Location:218 → 327
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1139 → 1267
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381 → 541
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1566 → 1689
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1800 → 1931
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:933 → 989
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:774 → 846
      FerB; FerB (NUC096) domain
      pfam08151
      Location:325 → 375
      FerI; FerI (NUC094) domain
      pfam08165
      Location:685 → 742
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1944 → 2030
      Ferlin_C; Ferlin C-terminus

    13. NM_001130987.2 → NP_001124459.1  dysferlin isoform 1

      See identical proteins and their annotated locations for NP_001124459.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC104084, AF075575, AK074649, DB292971, EU515157, EU515166
      Consensus CDS
      CCDS46328.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386881.3, ENST00000410020.8
      Conserved Domains (12) summary
      cd04011
      Location:249 → 358
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1170 → 1298
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412 → 572
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1618 → 1741
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1852 → 1983
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:964 → 1020
      DysFN; Dysferlin domain, N-terminal region
      COG5038
      Location:1191 → 1451
      COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]
      pfam08150
      Location:804 → 877
      FerB; FerB (NUC096) domain
      pfam08151
      Location:356 → 406
      FerI; FerI (NUC094) domain
      pfam08165
      Location:713 → 777
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1996 → 2084
      Ferlin_C; Ferlin C-terminus

    14. NM_003494.4 → NP_003485.1  dysferlin isoform 8

      See identical proteins and their annotated locations for NP_003485.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (8) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AC104084, AF075575, AI128455, AI192657, DB292971
      Consensus CDS
      CCDS1918.1
      UniProtKB/Swiss-Prot
      A0FK00, B1PZ70, B1PZ71, B1PZ72, B1PZ73, B1PZ74, B1PZ75, B1PZ76, B1PZ77, B1PZ78, B1PZ79, B1PZ80, B1PZ81, B3KQB9, O75696, O75923, Q09EX5, Q0H395, Q53QY3, Q53TD2, Q8TEL8, Q9UEN7
      Related
      ENSP00000258104.3, ENST00000258104.8
      Conserved Domains (11) summary
      cd04011
      Location:217 → 326
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1152 → 1280
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380 → 554
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1579 → 1702
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1813 → 1944
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:946 → 1002
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:787 → 859
      FerB; FerB (NUC096) domain
      pfam08151
      Location:324 → 374
      FerI; FerI (NUC094) domain
      pfam08165
      Location:698 → 755
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1957 → 2043
      Ferlin_C; Ferlin C-terminus

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      71453561..71686763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      71464487..71699459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75923.1 GenPept UniProtKB/Swiss-Prot:O75923

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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