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Col5a2
Gene Detail
 Symbol
Name
ID
Col5a2
collagen, type V, alpha 2
MGI:88458
Synonyms 1110014L14Rik
Feature Type protein coding gene
Genetic Map
Chromosome 1
23.69 cM, cytoband C1
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr1:45374321-45503282 bp, - strand
From VEGA annotation of GRCm38

  128962 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20119  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Col5a2

Human
homologs
Human Homolog COL5A2, collagen, type V, alpha 2
NCBI Gene ID 1290
neXtProt AC  NX_P05997
Human Chr (Location)  2q14-q32; chr2:189031915-189179879 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human COL5A2
Alleles
and
phenotypes
All alleles(2) : Targeted(2)
 
Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea.
 
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process cellular response to amino acid stimulus, collagen fibril organization, ...
Component collagen, collagen type V, ...
Function extracellular matrix structural constituent, metal ion binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (21 records)
Data Summary: Results (86)    Tissues (80)    Images (15)
Theiler Stages: 10, 17, 18, 20, 22, 23, 25, 26, 28
Assay TypeResults
RNA in situ 81
Northern blot 5
cDNA source data(308)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(310) Genomic(1) cDNA(309)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000021356 (Evidence)
Ensembl Gene ModelENSMUSG00000026042 (Evidence)
Entrez Gene12832 (Evidence)
UniGene10299
DFCITC1573197, TC1592224, TC1605812
DoTSDT.101320651, DT.493145, DT.525506, DT.87036746
NIA Mouse Gene IndexU021294
Consensus CDS ProjectCCDS35555.1
International Mouse Knockout Project StatusCol5a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021356 VEGA Gene Model | MGI Sequence Detail 128962 C57BL/6J ±  kb
transcript OTTMUST00000050640 VEGA | MGI Sequence Detail 6625 Not Applicable 
polypeptide OTTMUSP00000023677 VEGA | MGI Sequence Detail 1497 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(2) UniProt(2)
Polymorphisms SNPs within 2kb(1248 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1254)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR000885 Fibrillar collagen, C-terminal
InterPro IPR001007 von Willebrand factor, type C
Protein Ontology PR:000003331 collagen alpha-2(V) chain
References (Earliest) J:4067 Andrikopoulos K, et al., Localization of pro-alpha 2(V) collagen transcripts in the tissues of the developing mouse embryo. Dev Dyn. 1992 Oct;195(2):113-20
(Latest) J:193689 Takasuga S, et al., Critical roles of type III phosphatidylinositol phosphate kinase in murine embryonic visceral endoderm and adult intestine. Proc Natl Acad Sci U S A. 2013 Jan 29;110(5):1726-31
All references(57)
Other
accession IDs
MGD-MRK-2072, MGI:1920990

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory