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    COL5A2 collagen type V alpha 2 chain [ Homo sapiens (human) ]

    Gene ID: 1290, updated on 11-Jul-2021

    Summary

    Official Symbol
    COL5A2provided by HGNC
    Official Full Name
    collagen type V alpha 2 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2210
    See related
    Ensembl:ENSG00000204262 MIM:120190
    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
    EDSC; EDSCL2
    Summary
    This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in gall bladder (RPKM 57.0), placenta (RPKM 54.1) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See COL5A2 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (189031898..189225301, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (189896624..190044487, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373791 Neighboring gene microRNA 1245a Neighboring gene microRNA 1245b Neighboring gene collagen type III alpha 1 chain Neighboring gene microRNA 3606 Neighboring gene microRNA 3129 Neighboring gene uncharacterized LOC101927252 Neighboring gene keratin 18 pseudogene 19

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC105115

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in eye morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of endodermal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skin development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skin development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of collagen type V trimer IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of collagen type V trimer IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    collagen alpha-2(V) chain
    Names
    AB collagen
    collagen, fetal membrane, A polypeptide
    type V preprocollagen alpha 2 chain

    NCBI Reference Sequences (RefSeq)

    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_011799.3 RefSeqGene

      Range
      50541..198404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_738

    mRNA and Protein(s)

    1. NM_000393.5NP_000384.2  collagen alpha-2(V) chain preproprotein

      See identical proteins and their annotated locations for NP_000384.2

      Status: REVIEWED

      Source sequence(s)
      AB209045, AC133106, AL552427, J04478
      Consensus CDS
      CCDS33350.1
      UniProtKB/Swiss-Prot
      P05997
      Related
      ENSP00000364000.3, ENST00000374866.9
      Conserved Domains (4) summary
      pfam01391
      Location:495553
      Collagen; Collagen triple helix repeat (20 copies)
      PRK07764
      Location:346553
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam00093
      Location:4196
      VWC; von Willebrand factor type C domain
      pfam01410
      Location:12651498
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      189031898..189225301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510573.3XP_011508875.1  collagen alpha-2(V) chain isoform X1

      Conserved Domains (4) summary
      pfam01391
      Location:449507
      Collagen; Collagen triple helix repeat (20 copies)
      PRK07764
      Location:300507
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      pfam00093
      Location:150
      VWC; von Willebrand factor type C domain
      pfam01410
      Location:12191452
      COLFI; Fibrillar collagen C-terminal domain
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