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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

Gene Tree: Col8a1

Human
homologs
Human Homolog COL8A1, collagen, type VIII, alpha 1
NCBI Gene ID 1295
neXtProt AC  NX_P27658
Human Synonyms  C3orf7
Human Chr (Location)  3q12.3; chr3:99638596-99796733 (+)  GRCh38
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 306 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: (6 records)
Data Summary: Results (366)    Tissues (77)    Images (33)
Theiler Stages: 11, 15, 17, 19, 20, 21, 23, 24, 26, 27, 28
Assay TypeResults
Immunohistochemistry 21
RNA in situ 339
Western blot 4
RT-PCR 2
cDNA source data(14)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(16) Genomic(1) cDNA(14) Primer pair(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000021291 (Evidence)
Ensembl Gene ModelENSMUSG00000068196 (Evidence)
Entrez Gene12837 (Evidence)
DFCITC1578442, TC1632876, TC1672004, TC1754057
DoTSDT.101186173, DT.55170309, DT.55183024
NIA Mouse Gene IndexU037132
PDB1O91
Consensus CDS ProjectCCDS37367.1
International Mouse Knockout Project StatusCol8a1
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:203361 Adiguzel E, et al., Type VIII collagen signals via beta1 integrin and RhoA to regulate MMP-2 expression and smooth muscle cell migration. Matrix Biol. 2013 Aug 8;32(6):332-41
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
09/09/2014
MGI 5.19
The Jackson Laboratory