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Col5a2 collagen, type V, alpha 2 [ Mus musculus (house mouse) ]

Gene ID: 12832, updated on 5-Mar-2024

Summary

Official Symbol
Col5a2provided by MGI
Official Full Name
collagen, type V, alpha 2provided by MGI
Primary source
MGI:MGI:88458
See related
Ensembl:ENSMUSG00000026042 AllianceGenome:MGI:88458
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
1110014L14Rik
Summary
This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
Expression
Biased expression in limb E14.5 (RPKM 56.0), bladder adult (RPKM 29.0) and 14 other tissues See more
Orthologs
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Genomic context

See Col5a2 in Genome Data Viewer
Location:
1 C1.1; 1 23.69 cM
Exon count:
54
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (45413491..45542442, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (45374331..45503282, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene heat shock protein 1 (chaperonin) pseudogene 12 Neighboring gene STARR-seq mESC enhancer starr_00812 Neighboring gene collagen, type III, alpha 1 Neighboring gene STARR-seq mESC enhancer starr_00813 Neighboring gene chromobox protein homolog 3 pseudogene Neighboring gene apurinic/apyrimidinic endonuclease 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables extracellular matrix structural constituent IEA
Inferred from Electronic Annotation
more info
 
enables extracellular matrix structural constituent conferring tensile strength IBA
Inferred from Biological aspect of Ancestor
more info
 
enables extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within cellular response to amino acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in collagen fibril organization ISO
Inferred from Sequence Orthology
more info
 
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in eye morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of endodermal cell differentiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skin development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in skin development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skin development ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of collagen trimer IDA
Inferred from Direct Assay
more info
PubMed 
part_of collagen type V trimer IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of collagen type V trimer ISO
Inferred from Sequence Orthology
more info
 
part_of collagen type XI trimer NAS
Non-traceable Author Statement
more info
PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in collagen-containing extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
collagen alpha-2(V) chain
Names
procollagen, type V, alpha 2

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_007737.2NP_031763.2  collagen alpha-2(V) chain preproprotein

    See identical proteins and their annotated locations for NP_031763.2

    Status: REVIEWED

    Source sequence(s)
    AK003709, AK132413, AK139130, AK147328
    Consensus CDS
    CCDS35555.1
    UniProtKB/Swiss-Prot
    Q3TVR2, Q3U962, Q3UHK7, Q3UTT4, Q3V1J6, Q61431, Q7TMS0, Q80VS8
    Related
    ENSMUSP00000083620.5, ENSMUST00000086430.5
    Conserved Domains (3) summary
    pfam01391
    Location:493551
    Collagen; Collagen triple helix repeat (20 copies)
    smart00214
    Location:4095
    VWC; von Willebrand factor (vWF) type C domain
    pfam01410
    Location:12651496
    COLFI; Fibrillar collagen C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    45413491..45542442 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172972.1: Suppressed sequence

    Description
    NM_172972.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.