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

    Gene ID: 1290, updated on 21-Apr-2019

    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

    Genomic context

    See COL5A2 in Genome Data Viewer
    Location:
    2q32.2
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (189031915..189225301, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (189896641..190044668, 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 FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
      Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • miRNA targets in ECM and membrane receptors, organism-specific biosystem (from WikiPathways)
      miRNA targets in ECM and membrane receptors, organism-specific biosystemBased on the KEGG ECM-receptor interactions pathway (hsa04512), a depiction a plausible mechanism, where miRNAs regulate components of both extracellular matrix (top panel) and transmembrane receptor...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC105115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix structural constituent conferring tensile strength HDA PubMed 
    extracellular matrix structural constituent conferring tensile strength RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    eye morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of endodermal cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skin development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    collagen type V trimer IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    collagen-containing extracellular matrix HDA PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     

    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)

    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)

    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 (3) summary
      pfam01391
      Location:495553
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00093
      Location:4196
      VWC; von Willebrand factor type C domain
      pfam01410
      Location:12671498
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      189031915..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 (3) summary
      pfam01391
      Location:449507
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00093
      Location:150
      VWC; von Willebrand factor type C domain
      pfam01410
      Location:12211452
      COLFI; Fibrillar collagen C-terminal domain
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