About   Help   FAQ
Col8a2 Gene Detail
Summary
  • Symbol
    Col8a2
  • Name
    collagen, type VIII, alpha 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88464
    NCBI Gene: 329941
Location & Maps
more
  • Sequence Map
    Chr4:126286793-126314330 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      27538 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    COL8A2, collagen, type VIII, alpha 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL8A2, collagen, type VIII, alpha 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    FECD, FECD1, PPCD, PPCD2
  • Links
    NCBI Gene ID: 1296
    neXtProt AC: NX_P25067

  • Chr Location
    1p34.2; chr1:36095236-36125770 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Col8a2 mouse models; 2 with human COL8A2 associations

Human Disease Mouse Models
       Corneal Dystrophy, Fuchs Endothelial, 1; FECD1   OMIM: 136800 View 1 model
       Corneal Dystrophy, Posterior Polymorphous, 2; PPCD2   OMIM: 609140 View 1 "NOT" model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    12 phenotypes from 3 alleles in 3 genetic backgrounds
    6 phenotypes from multigenic genotypes
    21 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    3
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    4 involving Col8a2
  • Incidental Mutations
    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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    137 from dbSNP Build 137
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000005721 collagen alpha-2(VIII) chain
  • InterPro Domains
    IPR001073 C1q domain
    IPR008160 Collagen triple helix repeat
    IPR008983 Tumour necrosis factor-like domain
Molecular
Reagents
less
  • All nucleic 9
    Genomic 3
    cDNA 5
    Primer pair 1

    Microarray probesets 1
Other
Accession IDs
less
MGD-MRK-2082, MGI:2140277
References
more
  • Summaries
    All 38
    Developmental Gene Expression 5
    Diseases 3
    Gene Ontology 3
    Phenotypes 21
  • 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:214908 Meng H, et al., L450W and Q455K Col8a2 knock-in mouse models of Fuchs endothelial corneal dystrophy show distinct phenotypes and evidence for altered autophagy. Invest Ophthalmol Vis Sci. 2013 Mar;54(3):1887-97

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/26/2016
MGI 6.02
The Jackson Laboratory