Col8a2
Gene Detail

Symbol Name ID

Col8a2 collagen, type VIII, alpha 2 MGI:88464

Feature Type

protein coding gene

Genetic Map

Chromosome 4

60.29 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

Chr4:126286793-126314330 bp, + strand From VEGA annotation of GRCm38   27538 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:55879  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Col8a2

Human homologs

Human Homolog		COL8A2, collagen, type VIII, alpha 2
NCBI Gene ID		1296
neXtProt AC		NX_P25067
Human Synonyms		FECD, FECD1, PPCD, PPCD2
Human Chr (Location)		1p34.2; chr1:36560842-36565850 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human COL8A2

Alleles and phenotypes

All alleles(6) : Targeted(2) Gene trapped(3) Chemically induced(1)
 

Mice homozygous for a knock-out allele exhibit a thinner Descemet's membrane of the cornea. Mice heterozygous or homozygous for an ENU-induced mutation exhibit thin cornea, corneal epithelium, stroma, and Descemet membrane, and enlarged anterior chamber.

 
Human Diseases Modeled Using Mouse Col8a2 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	angiogenesis, camera-type eye morphogenesis, ...
Component	basement membrane, collagen, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (30)    Tissues (26)    Images (5)
Theiler Stages: 17, 21

Assay Type	Results
RNA in situ	30

cDNA source data(5)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(9) Genomic(3) cDNA(5) Primer pair(1)
Microarray probesets(1)

Other database links

VEGA Gene Model	OTTMUSG00000009356 (Evidence)
Ensembl Gene Model	ENSMUSG00000056174 (Evidence)
Entrez Gene	329941 (Evidence)
DFCI	TC1580584, TC1595764, TC1623294
DoTS	DT.101260185, DT.55152879, DT.94144032
NIA Mouse Gene Index	U090319
Consensus CDS Project	CCDS18649.1
International Mouse Knockout Project Status	Col8a2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000009356	VEGA Gene Model | MGI Sequence Detail	27538	C57BL/6J
transcript	OTTMUST00000021325	VEGA | MGI Sequence Detail	4332	Not Applicable
polypeptide	OTTMUSP00000009753	VEGA | MGI Sequence Detail	699	Not Applicable

All sequences(28) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(112 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR008160	Collagen triple helix repeat
InterPro	IPR001073	Complement C1q protein
InterPro	IPR008983	Tumour necrosis factor-like
Protein Ontology	PR:000005721	collagen alpha-2(VIII) chain

References

(Earliest) J:35224 Iruela-Arispe ML, et al., Expression of type VIII collagen during morphogenesis of the chicken and mouse heart. Dev Biol. 1991 Mar;144(1):107-18
(Latest) J:188408 Loeffler I, et al., Collagen VIII influences epithelial phenotypic changes in experimental diabetic nephropathy. Am J Physiol Renal Physiol. 2012 Sep;303(5):F733-45
All references(36)

Other accession IDs

MGD-MRK-2082, MGI:2140277