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Col8a2 Gene Detail
Summary
  • Symbol
    Col8a2
  • Name
    collagen, type VIII, alpha 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:88464
    NCBI Gene: 329941
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:126180613-126208123 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 60.29 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    803 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88464
 protein coding gene Chr4:126180586-126208123 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028777
 protein coding gene Chr4:127958447-127988979 (+)
A/J MGP_AJ_G0028736
 protein coding gene Chr4:122923534-122951373 (+)
AKR/J MGP_AKRJ_G0028689
 protein coding gene Chr4:126301196-126330500 (+)
BALB/cJ MGP_BALBcJ_G0028759
 protein coding gene Chr4:123499564-123527047 (+)
C3H/HeJ MGP_C3HHeJ_G0028473
 protein coding gene Chr4:126368099-126397434 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029201
 protein coding gene Chr4:132850969-132880177 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026474
 protein coding gene Chr4:116070556-116097880 (+)
CAST/EiJ MGP_CASTEiJ_G0027906
 protein coding gene Chr4:124473740-124504136 (+)
CBA/J MGP_CBAJ_G0028439
 protein coding gene Chr4:136052114-136081163 (+)
DBA/2J MGP_DBA2J_G0028588
 protein coding gene Chr4:123377269-123405475 (+)
FVB/NJ MGP_FVBNJ_G0028555
 protein coding gene Chr4:122030615-122061583 (+)
LP/J MGP_LPJ_G0028689
 protein coding gene Chr4:128246753-128275509 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028581
 protein coding gene Chr4:141083975-141111002 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029239
 protein coding gene Chr4:126655367-126684605 (+)
PWK/PhJ MGP_PWKPhJ_G0027627
 protein coding gene Chr4:119862358-119892630 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027453
 protein coding gene Chr4:122482277-122511768 (+)
WSB/EiJ MGP_WSBEiJ_G0027986
 protein coding gene Chr4:126757852-126785843 (+)



Homology
more
  • Human Ortholog
    COL8A2, collagen type VIII alpha 2 chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL8A2, collagen type VIII alpha 2 chain
  • Synonyms
    FECD, FECD1, PPCD, PPCD2
  • Links
    NCBI Gene ID: 1296
    neXtProt AC: NX_P25067
    UniProt: P25067

  • Chr Location
    1p34.3; chr1:36095239-36125222 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Col8a2 mouse models; 2 with human COL8A2 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 4 alleles in 4 genetic backgrounds
    8 phenotypes from multigenic genotypes
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
    11
  • GO References
    4
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    775
  • Tissues
    54
  • cDNA Data
    6
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 329941 NCBI Gene Model | MGI Sequence Detail 27511 C57BL/6J ±  kb
    transcript NM_199473 RefSeq | MGI Sequence Detail 4305 C57BL/6  
    polypeptide P25318 UniProt | EBI | MGI Sequence Detail 699 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      Genomic 3
      cDNA 6
      Primer pair 1

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGD-MRK-2082, MGI:2140277
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 9
      Diseases 5
      Gene Ontology 4
      Phenotypes 26
    • 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:352052 Murugan S, et al., Characterization of a Novel Mouse Model for Fuchs Endothelial Corneal Dystrophy. Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):18
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory