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

Gene ID: 1290, updated on 13-Mar-2020

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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (189031898..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 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

Function Evidence Code Pubs
SMAD binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
skin development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
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)

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 Updated Annotation Release 109.

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 (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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