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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 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: COL5A2
Gene Tree: Col5a2

Human
homologs
COL5A2, collagen, type V, alpha 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1290
neXtProt AC: NX_P05997

Human Synonyms: EDSC

Human Chr (Location): 2q14-q32; chr2:189031915-189225314 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human COL5A2

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Interactions
Col5a2 interacts with 307 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (21 records)
Data Summary: Results (87)    Tissues (81)    Images (16)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 81
Northern blot 5
cDNA source data(308)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA COL5A2 ; Xenbase col5a2    NEW 
Molecular
reagents
All nucleic(310) Genomic(1) cDNA(309)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000021356 (Evidence)
Ensembl Gene Model ENSMUSG00000026042 (Evidence)
Entrez Gene 12832 (Evidence)
UniGene 10299
DFCI TC1573197, TC1592224, TC1605812
DoTS DT.101320651, DT.493145, DT.525506, DT.87036746
NIA Mouse Gene Index U021294
Consensus CDS Project CCDS35555.1
International Mouse Phenotyping Consortium Status Col5a2
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:213088 Soteriou D, et al., Comparative proteomic analysis of supportive and unsupportive extracellular matrix substrates for human embryonic stem cell maintenance. J Biol Chem. 2013 Jun 28;288(26):18716-31
All references(56)
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
06/23/2015
MGI 5.22
The Jackson Laboratory