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Col8a1 Gene Detail
Summary
  • Symbol
    Col8a1
  • Name
    collagen, type VIII, alpha 1
  • Synonyms
    Col8a-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88463
    NCBI Gene: 12837
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:57444621-57575100 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 34.22 cM, cytoband C1.1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1031 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88463
 protein coding gene Chr16:57444619-57575100 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022900
 protein coding gene Chr16:56779311-56920505 (-)
A/J MGP_AJ_G0022867
 protein coding gene Chr16:54355645-54489739 (-)
AKR/J MGP_AKRJ_G0022839
 protein coding gene Chr16:56064896-56195708 (-)
BALB/cJ MGP_BALBcJ_G0022867
 protein coding gene Chr16:54460234-54591385 (-)
C3H/HeJ MGP_C3HHeJ_G0022630
 protein coding gene Chr16:56254671-56393783 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023315
 protein coding gene Chr16:58355268-58497694 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020826
 protein coding gene Chr16:53998207-54126082 (-)
CAST/EiJ MGP_CASTEiJ_G0022157
 protein coding gene Chr16:56648707-56785938 (-)
CBA/J MGP_CBAJ_G0022603
 protein coding gene Chr16:60721978-60860755 (-)
DBA/2J MGP_DBA2J_G0022735
 protein coding gene Chr16:54086565-54220136 (-)
FVB/NJ MGP_FVBNJ_G0022710
 protein coding gene Chr16:53859070-53992372 (-)
LP/J MGP_LPJ_G0022802
 protein coding gene Chr16:56579384-56718145 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022728
 protein coding gene Chr16:61030855-61189614 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023330
 protein coding gene Chr16:56210636-56346646 (-)
PWK/PhJ MGP_PWKPhJ_G0021896
 protein coding gene Chr16:54409689-54542793 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021726
 protein coding gene Chr16:56006243-56144146 (-)
WSB/EiJ MGP_WSBEiJ_G0022201
 protein coding gene Chr16:56256423-56396149 (-)



Homology
more
  • Human Ortholog
    COL8A1, collagen type VIII alpha 1 chain
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    COL8A1, collagen type VIII alpha 1 chain
  • Synonyms
    C3orf7
  • Links
    NCBI Gene ID: 1295
    neXtProt AC: NX_P27658
    UniProt: P27658

  • Chr Location
    3q12.1; chr3:99638475-99799226 (+)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    8 phenotypes from multigenic genotypes
    11 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.
Mutation of this gene causes cornea abnormalities that include increased depth of the anterior chamber and a thinner corneal stroma and Descemet's membrane.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    8
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
non-membrane-bounded 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
    1111
  • Tissues
    98
  • cDNA Data
    16
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000068196 Ensembl Gene Model | MGI Sequence Detail 130480 C57BL/6J ±  kb
    transcript ENSMUST00000089332 Ensembl | MGI Sequence Detail 5108 Not Applicable  
    polypeptide ENSMUSP00000086745 Ensembl | MGI Sequence Detail 744 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      Genomic 1
      cDNA 16
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-2080, MGD-MRK-2081
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 16
      Diseases 1
      Gene Ontology 8
      Phenotypes 11
    • 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:326693 Angelozzi M, et al., Single-cell atlas of craniogenesis uncovers SOXC-dependent, highly proliferative, and myofibroblast-like osteodermal progenitors. Cell Rep. 2022 Jul 12;40(2):111045
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory