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Col8a1
Gene Detail
Symbol

Name
ID
Col8a1
collagen, type VIII, alpha 1
MGI:88463
Synonyms
Col8a-1
Feature Type
protein coding gene
Genetic Map
Chromosome 16
34.22 cM, cytoband C1.1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr16:57624258-57754737 bp, - strand
From VEGA annotation of GRCm38

  130480 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:22423  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

HCOP human homology predictions: COL8A1
Gene Tree: Col8a1

Human
homologs
COL8A1, collagen, type VIII, alpha 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1295
neXtProt AC: NX_P27658

Human Synonyms: C3orf7

Human Chr (Location): 3q12.3; chr3:99638596-99796733 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mutation of this gene causes cornea abnormalities that include increased depth of the anterior chamber and a thinner corneal stroma and Descemet's membrane.
 
Interactions
Col8a1 interacts with 305 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process angiogenesis, camera-type eye morphogenesis, ...
Component basement membrane, collagen trimer, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (366)    Tissues (77)    Images (33)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 21
RNA in situ 339
Western blot 4
RT-PCR 2
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase col8a1 ; ZFIN col8a1a    NEW 
Molecular
reagents
All nucleic(16) Genomic(1) cDNA(14) Primer pair(1)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000021291 (Evidence)
Ensembl Gene Model ENSMUSG00000068196 (Evidence)
Entrez Gene 12837 (Evidence)
DFCI TC1578442, TC1632876, TC1672004, TC1754057
DoTS DT.101186173, DT.55170309, DT.55183024
NIA Mouse Gene Index U037132
PDB 1O91
Consensus CDS Project CCDS37367.1
International Mouse Phenotyping Consortium Status Col8a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021291 VEGA Gene Model | MGI Sequence Detail 130480 C57BL/6J ±  kb
transcript OTTMUST00000050477 VEGA | MGI Sequence Detail 5108 Not Applicable 
polypeptide OTTMUSP00000023567 VEGA | MGI Sequence Detail 744 Not Applicable 

For the selected sequences
All sequences(34) RefSeq(2) UniProt(1)
Polymorphisms
SNPs within 2kb(1033 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:000005720 collagen alpha-1(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:215459 Hellbach N, et al., Neural deletion of Tgfbr2 impairs angiogenesis through an altered secretome. Hum Mol Genet. 2014 Dec 1;23(23):6177-90
All references(41)
Other
accession IDs
MGD-MRK-2080, MGD-MRK-2081

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
07/21/2015
MGI 5.22
The Jackson Laboratory