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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 western clawed frog; 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; chr1:36095239-36125704 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human COL8A2
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Chemically induced (ENU)(1) Gene trapped(3) Targeted(2)
Incidental mutations (data from APF )
 
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)   
Interactions
Col8a2 interacts with 211 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (9 annotations)
Process angiogenesis, camera-type eye morphogenesis, ...
Component basement membrane, collagen trimer, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (55)    Tissues (47)    Images (17)
Theiler Stages: 11, 15, 17, 19, 20, 21, 23, 24, 28
Assay TypeResults
Immunohistochemistry 21
RNA in situ 30
Western blot 4
cDNA source data(5)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(9) Genomic(3) cDNA(5) Primer pair(1)
Microarray probesets(1)
Other database
links
VEGA Gene ModelOTTMUSG00000009356 (Evidence)
Ensembl Gene ModelENSMUSG00000056174 (Evidence)
Entrez Gene329941 (Evidence)
DFCITC1580584, TC1595764, TC1623294
DoTSDT.101260185, DT.55152879, DT.94144032
NIA Mouse Gene IndexU090319
Consensus CDS ProjectCCDS18649.1
International Mouse Knockout Project StatusCol8a2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009356 VEGA Gene Model | MGI Sequence Detail 27538 C57BL/6J ±  kb
transcript OTTMUST00000021325 VEGA | MGI Sequence Detail 4332 Not Applicable 
polypeptide OTTMUSP00000009753 VEGA | MGI Sequence Detail 699 Not Applicable 

For the selected sequences
All sequences(30) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(137 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR001073 Complement C1q protein
InterPro IPR008983 Tumour necrosis factor-like domain
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:205342 Cone-Kimball E, et al., Scleral structural alterations associated with chronic experimental intraocular pressure elevation in mice. Mol Vis. 2013;19:2023-39
All references(39)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-2082, MGI:2140277

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
08/19/2014
MGI 5.19
The Jackson Laboratory