U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    NRXN2 neurexin 2 [ Homo sapiens (human) ]

    Gene ID: 9379, updated on 10-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    NRXN2provided by HGNC
    Official Full Name
    neurexin 2provided by HGNC
    Primary source
    HGNC:HGNC:8009
    See related
    Ensembl:ENSG00000110076 MIM:600566; AllianceGenome:HGNC:8009
    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
    Summary
    This gene encodes a member of the neurexin gene family. The products of these genes function as cell adhesion molecules and receptors in the vertebrate nervous system. These genes utilize two promoters. The majority of transcripts are produced from the upstream promoter and encode alpha-neurexin isoforms while a smaller number of transcripts are produced from the downstream promoter and encode beta-neuresin isoforms. The alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. The beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins. Alternative splicing and the use of alternative promoters may generate thousands of transcript variants (PMID: 12036300, PMID: 11944992).[provided by RefSeq, Jun 2010]
    Expression
    Biased expression in brain (RPKM 25.4), testis (RPKM 3.9) and 2 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See NRXN2 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64606174..64723197, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64599157..64716433, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64373646..64490669, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64325867-64326380 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64327331-64327499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64332286-64333255 Neighboring gene solute carrier family 22 member 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64338776-64339380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350049-64350932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64350933-64351815 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:64352037-64352222 Neighboring gene solute carrier family 22 member 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64372269-64373070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387298-64387914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387915-64388530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64404690-64405258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414407-64414908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414909-64415408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64415526-64416494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64419195-64419694 Neighboring gene NRXN2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64421037-64421537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424651-64425150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424149-64424650 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64426961-64428160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64455312-64456232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64480596-64481379 Neighboring gene Sharpr-MPRA regulatory region 4107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64492769-64493607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64506559-64507108 Neighboring gene RAS guanyl releasing protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64520964-64521574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64525447-64526151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64526152-64526855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64526856-64527560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64527561-64528263 Neighboring gene glycogen phosphorylase, muscle associated

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Neurexin 2 p.G849D variant, implicated in Parkinson's disease, increases reactive oxygen species, and reduces cell viability and mitochondrial membrane potential in SH-SY5Y cells. Cuttler K, et al. J Neural Transm (Vienna), 2022 Dec. PMID 36242655
    2. NRXN2 Possesses a Tumor Suppressor Potential via Inhibiting the Growth of Thyroid Cancer Cells. Ma C, et al. Comput Math Methods Med, 2021. PMID 34777568, Free PMC Article
    3. A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study. Alves-Ferreira M, et al. J Headache Pain, 2021 Jun 14. PMID 34126933, Free PMC Article
    4. Translational Inhibition of α-Neurexin 2. Ding X, et al. Sci Rep, 2020 Feb 25. PMID 32099033, Free PMC Article
    5. A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors. Yuan H, et al. Eur J Med Genet, 2018 Oct. PMID 29654904

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Neurexin 2 p.G849D variant, implicated in Parkinson's disease, increases reactive oxygen species, and reduces cell viability and mitochondrial membrane potential in SH-SY5Y cells.
      Title: Neurexin 2 p.G849D variant, implicated in Parkinson's disease, increases reactive oxygen species, and reduces cell viability and mitochondrial membrane potential in SH-SY5Y cells.
    2. NRXN2 Possesses a Tumor Suppressor Potential via Inhibiting the Growth of Thyroid Cancer Cells.
      Title: NRXN2 Possesses a Tumor Suppressor Potential via Inhibiting the Growth of Thyroid Cancer Cells.
    3. A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study.
      Title: A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study.
    4. Translational Inhibition of alpha-Neurexin 2.
      Title: Translational Inhibition of α-Neurexin 2.
    5. Mutations in NRXN1 (c.2686C>T, p.Arg896Trp) and NRXN2 (c.3176G>A, p.Arg1059Gln) were found in a patient with early-onset epileptic encephalopathy and respiratory depression.
      Title: Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression.
    6. The neurexins are a family of synaptic adhesion proteins encoded by paralogous genes that play key roles in synaptic function.
      Title: Neurexin gene family variants as risk factors for autism spectrum disorder.
    7. NRXN2 gene had incomplete penetrance for autistic behavioral phenotype.
      Title: A de novo 921 Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors.
    8. NRXN2 may play a part in early cortical synaptogenesis, but NRXNs could have diverse roles in development including axon guidance, and intercellular communication between proliferating cells and/or migrating neurons.
      Title: Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex.
    9. The rare variants in NRXN2 were significantly associated with smoking status.
      Title: The contribution of rare and common variants in 30 genes to risk nicotine dependence.
    10. Truncating mutations in NRXN2 is associated with autism spectrum disorders and schizophrenia
      Title: Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

    Go to the top of the page Help

    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
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ40892, KIAA0921

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cell adhesion molecule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables cell adhesion molecule binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables neuroligin family protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables neuroligin family protein binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables transmembrane signaling receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transmembrane signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adult behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chemical synaptic transmission ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in gephyrin clustering involved in postsynaptic density assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuroligin clustering involved in postsynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron cell-cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in postsynaptic density protein 95 clustering ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in postsynaptic membrane assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in presynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in social behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vocal learning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vocalization behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    neurexin-2-beta
    Names
    neurexin II

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_047107.1 RefSeqGene

      Range
      4992..122015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001376262.1 → NP_001363191.1  neurexin-2-beta isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      UniProtKB/TrEMBL
      A0A994J4N8
      Related
      ENSP00000516029.1, ENST00000704781.1
      Conserved Domains (5) summary
      smart00282
      Location:516 → 666
      LamG; Laminin G domain
      cd00054
      Location:694 → 727
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28 → 184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:1443 → 1482
      Syndecan; Syndecan domain
      pfam02210
      Location:946 → 1071
      Laminin_G_2; Laminin G domain

    2. NM_001376263.1 → NP_001363192.1  neurexin-2-beta isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      Consensus CDS
      CCDS91500.1
      UniProtKB/TrEMBL
      A0A8I5KY42, A0A994J4N8
      Related
      ENSP00000509497.1, ENST00000688050.1
      Conserved Domains (5) summary
      smart00282
      Location:509 → 659
      LamG; Laminin G domain
      cd00054
      Location:687 → 720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28 → 184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:1436 → 1475
      Syndecan; Syndecan domain
      pfam02210
      Location:939 → 1064
      Laminin_G_2; Laminin G domain

    3. NM_001376265.1 → NP_001363194.1  neurexin-2-beta isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      UniProtKB/TrEMBL
      A0A994J4N8
      Conserved Domains (5) summary
      smart00282
      Location:501 → 651
      LamG; Laminin G domain
      cd00054
      Location:679 → 712
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28 → 184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:1428 → 1467
      Syndecan; Syndecan domain
      pfam02210
      Location:931 → 1056
      Laminin_G_2; Laminin G domain

    4. NM_001376266.1 → NP_001363195.1  neurexin-2-beta isoform 6 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      UniProtKB/TrEMBL
      A0A994J4N8
      Related
      ENSP00000510245.1, ENST00000693456.1
      Conserved Domains (5) summary
      smart00282
      Location:508 → 658
      LamG; Laminin G domain
      cd00054
      Location:686 → 719
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28 → 184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:1435 → 1474
      Syndecan; Syndecan domain
      pfam02210
      Location:938 → 1063
      Laminin_G_2; Laminin G domain

    5. NM_001376267.1 → NP_001363196.1  neurexin-2-beta isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AP001092, AP001462
      UniProtKB/TrEMBL
      A0A994J4N8
      Related
      ENSP00000508669.1, ENST00000689935.1
      Conserved Domains (5) summary
      smart00282
      Location:509 → 659
      LamG; Laminin G domain
      cd00054
      Location:687 → 720
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28 → 184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:1406 → 1445
      Syndecan; Syndecan domain
      pfam02210
      Location:939 → 1064
      Laminin_G_2; Laminin G domain

    6. NM_001400681.1 → NP_001387610.1  neurexin-2-beta isoform 9

      Status: REVIEWED

      Source sequence(s)
      AP001092

    7. NM_001400682.1 → NP_001387611.1  neurexin-2-beta isoform 10

      Status: REVIEWED

      Source sequence(s)
      AP001092

    8. NM_015080.4 → NP_055895.1  neurexin-2-beta isoform alpha-1 precursor

      See identical proteins and their annotated locations for NP_055895.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha-1) encodes the longest isoform (alpha-1).
      Source sequence(s)
      AP001092, AP001462
      Consensus CDS
      CCDS8077.1
      UniProtKB/Swiss-Prot
      A7E2C1, Q9P2S2, Q9Y2D6
      UniProtKB/TrEMBL
      A0A994J5C3
      Related
      ENSP00000265459.5, ENST00000265459.11
      Conserved Domains (5) summary
      smart00282
      Location:516 → 666
      LamG; Laminin G domain
      cd00054
      Location:694 → 727
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28 → 184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:1637 → 1676
      Syndecan; Syndecan domain
      pfam02210
      Location:946 → 1074
      Laminin_G_2; Laminin G domain

    9. NM_138732.3 → NP_620060.1  neurexin-2-beta isoform alpha-2 precursor

      See identical proteins and their annotated locations for NP_620060.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (alpha-2) lacks 3 exons and a portion from a fourth exon in the coding region, as compared to variant alpha-2. It encodes isoform alpha-2 which is missing 4 internal aa fragments but has identical N- and C-termini to isoform alpha-1.
      Source sequence(s)
      AB023138, AP001092, AP001462
      Consensus CDS
      CCDS31597.1
      UniProtKB/TrEMBL
      G5E9G7
      Related
      ENSP00000366782.3, ENST00000377559.7
      Conserved Domains (5) summary
      smart00282
      Location:485 → 635
      LamG; Laminin G domain
      cd00054
      Location:663 → 696
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd00110
      Location:28 → 184
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
      pfam01034
      Location:1567 → 1606
      Syndecan; Syndecan domain
      pfam02210
      Location:906 → 1034
      Laminin_G_2; Laminin G domain

    10. NM_138734.3 → NP_620063.1  neurexin-2-beta isoform beta precursor

      See identical proteins and their annotated locations for NP_620063.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (beta) lacks most 5' exons and has an alternate exon at the 5' end, as compared to variant alpha-1. It encodes isoform beta which has a much shorter and different N-terminus than isoform alpha-1 (PMID: 12036300 and PMID: 11944992).
      Source sequence(s)
      AP001092
      Consensus CDS
      CCDS8078.1
      UniProtKB/Swiss-Prot
      P58401
      Related
      ENSP00000301894.2, ENST00000301894.6
      Conserved Domains (4) summary
      smart00294
      Location:611 → 629
      4.1m; putative band 4.1 homologues' binding motif
      PHA03247
      Location:387 → 586
      PHA03247; large tegument protein UL36; Provisional
      pfam01034
      Location:591 → 626
      Syndecan; Syndecan domain
      pfam02210
      Location:123 → 271
      Laminin_G_2; Laminin G domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      64606174..64723197 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      64599157..64716433 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P58401.1 GenPept UniProtKB/Swiss-Prot:P58401
    Q9P2S2.1 GenPept UniProtKB/Swiss-Prot:Q9P2S2

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous