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    EPB41L2 erythrocyte membrane protein band 4.1 like 2 [ Homo sapiens (human) ]

    Gene ID: 2037, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EPB41L2provided by HGNC
    Official Full Name
    erythrocyte membrane protein band 4.1 like 2provided by HGNC
    Primary source
    HGNC:HGNC:3379
    See related
    Ensembl:ENSG00000079819 MIM:603237; AllianceGenome:HGNC:3379
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    4.1G; 4.1-G
    Summary
    Predicted to enable PH domain binding activity; cytoskeletal protein binding activity; and structural molecule activity. Involved in positive regulation of protein localization to cell cortex. Located in several cellular components, including cell cortex; cell junction; and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in fat (RPKM 33.9), ovary (RPKM 23.5) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EPB41L2 in Genome Data Viewer
    Location:
    6q23.1-q23.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (130839347..131063245, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (132034412..132258670, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (131160487..131384385, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378003 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89674 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:131117030-131117723 Neighboring gene Sharpr-MPRA regulatory region 8038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25062 Neighboring gene Sharpr-MPRA regulatory region 2744 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89712 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89717 Neighboring gene small leucine rich protein 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17541 Neighboring gene Sharpr-MPRA regulatory region 6396 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:131314249-131315096 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89780 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17543 Neighboring gene uncharacterized LOC105378004 Neighboring gene uncharacterized LOC102723445 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89797 Neighboring gene A-kinase anchoring protein 7

    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. Novel mechanism of regulation of protein 4.1G binding properties through Ca2+/calmodulin-mediated structural changes. Nunomura W, et al. Cell Biochem Biophys, 2013 Jul. PMID 23354586
    2. Suppression of adenylyl cyclase-mediated cAMP production by plasma membrane associated cytoskeletal protein 4.1G. Goto T, et al. Cell Signal, 2013 Mar. PMID 23201780
    3. Exosomal circEPB41L2 serves as a sponge for miR-21-5p and miR-942-5p to suppress colorectal cancer progression by regulating the PTEN/AKT signalling pathway. Jiang Z, et al. Eur J Clin Invest, 2021 Sep. PMID 34022068
    4. Protein 4.1G binds to a unique motif within the Fc gamma RI cytoplasmic tail. Beekman JM, et al. Mol Immunol, 2008 Apr. PMID 18023480
    5. Activity of Adenylyl Cyclase Type 6 Is Suppressed by Direct Binding of the Cytoskeletal Protein 4.1G. Saito M, et al. Mol Pharmacol, 2019 Oct. PMID 31383768

    See all (147) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exosomal circEPB41L2 serves as a sponge for miR-21-5p and miR-942-5p to suppress colorectal cancer progression by regulating the PTEN/AKT signalling pathway.
      Title: Exosomal circEPB41L2 serves as a sponge for miR-21-5p and miR-942-5p to suppress colorectal cancer progression by regulating the PTEN/AKT signalling pathway.
    2. Data found that direct binding of 4.1G to the N-terminus of AC6 (AC6-N) contributes to the plasma membrane association of AC6-N and the resulting suppression of AC6 cyclase activity.
      Title: Activity of Adenylyl Cyclase Type 6 Is Suppressed by Direct Binding of the Cytoskeletal Protein 4.1G.
    3. Ca(2+)/CaM binding to GHP, and more specifically to pepG, has profound effects on other functional domains of 4.1G
      Title: Novel mechanism of regulation of protein 4.1G binding properties through Ca2+/calmodulin-mediated structural changes.
    4. 4.1G protein depresses PTH-related protein receptor-mediated Gs signaling pathway by suppression of adenylyl cyclase-mediated cAMP production.
      Title: Suppression of adenylyl cyclase-mediated cAMP production by plasma membrane associated cytoskeletal protein 4.1G.
    5. A phosphoserine-dependent tethering role for protein 4.1G in lipid rafts provides insight into the unique phosphoserine-based regulation of FcgammaRI receptor signaling.
      Title: Serine phosphorylation of FcγRI cytoplasmic domain directs lipid raft localization and interaction with protein 4.1G.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of childhood acute lymphoblastic leukemia in Korea.
    8. An alternatively spliced 4.1G product is shown to be associated with increased Fc gamma RI binding in yeast two-hybrid assays, and to be selectively enriched in most immune cells at the transcript level.
      Title: Protein 4.1G binds to a unique motif within the Fc gamma RI cytoplasmic tail.
    9. PTA-1(CD226 antigen) is localized to membrane rafts and binds the carboxyl-terminal domain of isoforms of the actin-binding protein 4.1G and also can bind human discs large providing the structural basis for a regulated molecular adhesive complex
      Title: The LFA-1-associated molecule PTA-1 (CD226) on T cells forms a dynamic molecular complex with protein 4.1G and human discs large.
    Submit: New GeneRIF Correction

    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
    Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.
    EBI GWAS Catalog
    Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
    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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    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Cellular biotinylated erythrocyte membrane protein band 4.1-like 2 (EPB41L2) protein is incorporated into HIV-1 Gag virus-like particles 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

    • DKFZp781D1972, DKFZp781H1755

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PH domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables spectrin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cortical actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein localization to cell cortex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of COP9 signalosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in focal adhesion HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    part_of spectrin TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    band 4.1-like protein 2
    Names
    erythrocyte membrane protein band 4.1 like-protein 2
    generally expressed protein 4.1

    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.

    mRNA and Protein(s)

    1. NM_001135554.2 → NP_001129026.1  band 4.1-like protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks multiple consecutive in-frame exons in the CDS, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AB209522, BC034718, DA108957
      Consensus CDS
      CCDS47474.1
      UniProtKB/TrEMBL
      Q59FD8
      Related
      ENSP00000376222.3, ENST00000392427.7
      Conserved Domains (5) summary
      PTZ00121
      Location:9 → 222
      PTZ00121; MAEBL; Provisional
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:611 → 666
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 550
      FA; FERM adjacent (FA)

    2. NM_001135555.4 → NP_001129027.1  band 4.1-like protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR and lacks five consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. Variants 2 and 3 encode the same isoform (b), which is shorter than isoform a.
      Source sequence(s)
      AK295124, BC034718
      Consensus CDS
      CCDS47474.1
      UniProtKB/TrEMBL
      Q59FD8
      Related
      ENSP00000432803.1, ENST00000525271.5
      Conserved Domains (5) summary
      PTZ00121
      Location:9 → 222
      PTZ00121; MAEBL; Provisional
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:611 → 666
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 550
      FA; FERM adjacent (FA)

    3. NM_001199388.3 → NP_001186317.1  band 4.1-like protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate splice site in the coding region and lacks two consecutive coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 4 and 15-17 all encode the same isoform (c).
      Source sequence(s)
      AK295958, BC034718, DA108957
      Consensus CDS
      CCDS56450.1
      UniProtKB/TrEMBL
      E9PK52
      Related
      ENSP00000434576.1, ENST00000530481.5
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:740 → 845
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    4. NM_001252660.2 → NP_001239589.1  band 4.1-like protein 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks three consecutive exons in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a. Variants 6 and 18-20 all encode the same isoform (d).
      Source sequence(s)
      BC034718, CR749262, CR936793
      Consensus CDS
      CCDS59037.1
      UniProtKB/TrEMBL
      Q59FD8
      Related
      ENSP00000434308.1, ENST00000528282.5
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:635 → 740
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    5. NM_001350299.2 → NP_001337228.1  band 4.1-like protein 2 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) represents the longest transcript and encodes the longest isoform (e).
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS94000.1
      UniProtKB/TrEMBL
      A0A994J5B1
      Related
      ENSP00000516350.1, ENST00000706365.1
      Conserved Domains (6) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:630 → 673
      SAB; SAB domain
      pfam05902
      Location:945 → 1050
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    6. NM_001350301.2 → NP_001337230.1  band 4.1-like protein 2 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) encodes isoform f.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Conserved Domains (6) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:630 → 673
      SAB; SAB domain
      pfam05902
      Location:945 → 1017
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    7. NM_001350302.2 → NP_001337231.1  band 4.1-like protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variant 1, encodes isoform a.
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS5141.1
      UniProtKB/Swiss-Prot
      B4DHI8, E9PPD9, O43491, Q5T4F0, Q68DV2
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (6) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:630 → 673
      SAB; SAB domain
      pfam05902
      Location:893 → 998
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    8. NM_001350303.2 → NP_001337232.1  band 4.1-like protein 2 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) encodes isoform g.
      Source sequence(s)
      AL355360, AL357496, AL358943
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:844 → 949
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    9. NM_001350304.2 → NP_001337233.1  band 4.1-like protein 2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 12 and 13, encodes isoform h.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS87440.1
      UniProtKB/TrEMBL
      E9PHY5, E9PK52
      Related
      ENSP00000486691.1, ENST00000628542.2
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:823 → 928
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    10. NM_001350305.2 → NP_001337234.1  band 4.1-like protein 2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variants 11 and 13, encodes isoform h.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS87440.1
      UniProtKB/TrEMBL
      E9PHY5, E9PK52
      Related
      ENSP00000436348.1, ENST00000527411.5
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:823 → 928
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    11. NM_001350306.2 → NP_001337235.1  band 4.1-like protein 2 isoform h

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variants 11 and 12, encodes isoform h.
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS87440.1
      UniProtKB/TrEMBL
      E9PHY5, E9PK52
      Related
      ENSP00000436641.1, ENST00000529208.5
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:823 → 928
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    12. NM_001350307.2 → NP_001337236.1  band 4.1-like protein 2 isoform i

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14) encodes isoform i.
      Source sequence(s)
      AL355360, AL357496, AL358943
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:758 → 863
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    13. NM_001350308.2 → NP_001337237.1  band 4.1-like protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (15), as well as variants 4, 16, and 17, encodes isoform c.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS56450.1
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:740 → 845
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    14. NM_001350309.1 → NP_001337238.1  band 4.1-like protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variants 4, 15, and 17, encodes isoform c.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS56450.1
      UniProtKB/TrEMBL
      E9PK52
      Related
      ENSP00000431647.1, ENST00000527659.5
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:740 → 845
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    15. NM_001350310.2 → NP_001337239.1  band 4.1-like protein 2 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (17), as well as variants 4, 15, and 16, encodes isoform c.
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS56450.1
      UniProtKB/TrEMBL
      E9PK52
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:740 → 845
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    16. NM_001350311.2 → NP_001337240.1  band 4.1-like protein 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (18), as well as variants 6, 19, and 20, encodes isoform d.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS59037.1
      UniProtKB/TrEMBL
      Q59FD8
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:635 → 740
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    17. NM_001350312.2 → NP_001337241.1  band 4.1-like protein 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (19), as well as variants 6, 18, and 20, encodes isoform d.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS59037.1
      UniProtKB/TrEMBL
      Q59FD8
      Related
      ENSP00000402041.2, ENST00000445890.6
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:635 → 740
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    18. NM_001350313.2 → NP_001337242.1  band 4.1-like protein 2 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (20), as well as variants 6, 18, and 19, encodes isoform d.
      Source sequence(s)
      AL355360, AL358943
      Consensus CDS
      CCDS59037.1
      UniProtKB/TrEMBL
      Q59FD8
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:635 → 740
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    19. NM_001350314.2 → NP_001337243.1  band 4.1-like protein 2 isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (21), as well as variant 22, encodes isoform j.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS87439.1
      UniProtKB/TrEMBL
      E9PII3, Q59FD8
      Related
      ENSP00000431988.1, ENST00000525193.5
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:611 → 699
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    20. NM_001350315.2 → NP_001337244.1  band 4.1-like protein 2 isoform j

      Status: VALIDATED

      Description
      Transcript Variant: This variant (22), as well as variant 21, encodes isoform j.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Consensus CDS
      CCDS87439.1
      UniProtKB/TrEMBL
      E9PII3, Q59FD8
      Conserved Domains (5) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:611 → 699
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    21. NM_001350320.2 → NP_001337249.1  band 4.1-like protein 2 isoform k

      Status: VALIDATED

      Description
      Transcript Variant: This variant (23) encodes isoform k.
      Source sequence(s)
      AL355360, AL357496, AL358943
      Conserved Domains (3) summary
      cd13184
      Location:2 → 95
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam05902
      Location:421 → 526
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:105 → 147
      FA; FERM adjacent (FA)

    22. NM_001431.4 → NP_001422.1  band 4.1-like protein 2 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1), as well as variant 9, encodes isoform a.
      Source sequence(s)
      AF027299, BC034718, DA108957
      Consensus CDS
      CCDS5141.1
      UniProtKB/Swiss-Prot
      B4DHI8, E9PPD9, O43491, Q5T4F0, Q68DV2
      UniProtKB/TrEMBL
      E9PK52
      Related
      ENSP00000338481.3, ENST00000337057.8
      Conserved Domains (6) summary
      smart00295
      Location:220 → 409
      B41; Band 4.1 homologues
      cd13184
      Location:404 → 497
      FERM_C_4_1_family; FERM domain C-lobe of Protein 4.1 family
      pfam04382
      Location:630 → 673
      SAB; SAB domain
      pfam05902
      Location:893 → 998
      4_1_CTD; 4.1 protein C-terminal domain (CTD)
      pfam08736
      Location:507 → 549
      FA; FERM adjacent (FA)
      cl26511
      Location:9 → 222
      Neuromodulin_N; Gap junction protein N-terminal region

    RNA

    1. NR_146620.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL355360, AL357496, AL358943

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      130839347..131063245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      132034412..132258670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001199389.1: Suppressed sequence

      Description
      NM_001199389.1: This RefSeq was permanently suppressed because currently there is insufficient support for the exon combination of the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43491.1 GenPept UniProtKB/Swiss-Prot:O43491

    Gene LinkOut

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

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