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

Gene ID: 12832, updated on 8-May-2016
Official Symbol
Col5a2provided by MGI
Official Full Name
collagen, type V, alpha 2provided by MGI
Primary source
MGI:MGI:88458
See related
Ensembl:ENSMUSG00000026042 Vega:OTTMUSG00000021356
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; 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]
Orthologs
Location:
1; 1 C1
Exon count:
54
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 1 NC_000067.6 (45374331..45503282, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (45431176..45560127, complement)

Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene heat shock protein 1 (chaperonin) pseudogene 12 Neighboring gene collagen, type III, alpha 1 Neighboring gene predicted gene, 39636 Neighboring gene chromobox protein homolog 3 pseudogene Neighboring gene apurinic/apyrimidinic endonuclease 1 pseudogene

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
extracellular matrix structural constituent IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to amino acid stimulus IDA
Inferred from Direct Assay
more info
PubMed 
collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
collagen fibril organization ISO
Inferred from Sequence Orthology
more info
 
eye morphogenesis ISO
Inferred from Sequence Orthology
more info
 
negative regulation of endodermal cell differentiation ISO
Inferred from Sequence Orthology
more info
 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
skin development IMP
Inferred from Mutant Phenotype
more info
PubMed 
skin development ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
collagen trimer IDA
Inferred from Direct Assay
more info
PubMed 
collagen type V trimer ISO
Inferred from Sequence Orthology
more info
 
extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
collagen alpha-2(V) chain
Names
procollagen, type V, alpha 2

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
    Q3U962
    Related
    ENSMUSP00000083620, OTTMUSP00000023677, ENSMUST00000086430, OTTMUST00000050640
    Conserved Domains (3) summary
    pfam01391
    Location:493551
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:12631497
    COLFI; Fibrillar collagens C-terminal domain
    smart00214
    Location:4095
    VWC; von Willebrand factor (vWF) type C domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000067.6 Reference GRCm38.p3 C57BL/6J

    Range
    45374331..45503282 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

  1. AC_000023.1 Alternate Mm_Celera

    Range
    45675438..45811971 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)