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Gja8 Gene Detail
Summary
  • Symbol
    Gja8
  • Name
    gap junction protein, alpha 8
  • Synonyms
    Aey5, alpha 8 connexin, Cnx50, connexin 50, Cx50, dcm, Lop10
  • Feature Type
    protein coding gene
  • IDs
    MGI:99953
    NCBI Gene: 14616
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:96820882-96833336 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3,
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    152 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99953
 protein coding gene Chr3:96820882-96833367 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027637
 protein coding gene Chr3:97818341-97832197 (-)
A/J MGP_AJ_G0027599
 protein coding gene Chr3:94681395-94694996 (-)
AKR/J MGP_AKRJ_G0027566
 protein coding gene Chr3:96924123-96936462 (-)
BALB/cJ MGP_BALBcJ_G0027609
 protein coding gene Chr3:94507555-94519889 (-)
C3H/HeJ MGP_C3HHeJ_G0027341
 protein coding gene Chr3:97221046-97233826 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028055
 protein coding gene Chr3:101382263-101395182 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025396
 protein coding gene Chr3:90957498-90969653 (-)
CAST/EiJ MGP_CASTEiJ_G0026796
 protein coding gene Chr3:96495878-96509150 (-)
CBA/J MGP_CBAJ_G0027315
 protein coding gene Chr3:105104375-105117620 (-)
DBA/2J MGP_DBA2J_G0027459
 protein coding gene Chr3:94013465-94025819 (-)
FVB/NJ MGP_FVBNJ_G0027428
 protein coding gene Chr3:92023124-92035624 (-)
LP/J MGP_LPJ_G0027564
 protein coding gene Chr3:99090899-99105271 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027454
 protein coding gene Chr3:111173107-111186691 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028109
 protein coding gene Chr3:96535166-96547583 (-)
PWK/PhJ MGP_PWKPhJ_G0026521
 protein coding gene Chr3:93856137-93868894 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026343
 protein coding gene Chr3:94832793-94844778 (-)
WSB/EiJ MGP_WSBEiJ_G0026874
 protein coding gene Chr3:97000248-97012571 (-)



Homology
more
  • Human Ortholog
    GJA8, gap junction protein alpha 8
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJA8, gap junction protein alpha 8
  • Synonyms
    CAE, CAE1, CTRCT1, CX50, CZP1, MP70
  • Links
    NCBI Gene ID: 2703
    neXtProt AC: NX_P48165
    UniProt: P48165

  • Chr Location
    1q21.2; chr1:147902795-147914486 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gja8 mouse models; 2 with human GJA8 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 11 alleles in 16 genetic backgrounds
    17 phenotypes from multigenic genotypes
    5 images
    55 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.
Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    9
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
    730
  • Tissues
    16
  • cDNA Data
    6
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000049908 Ensembl Gene Model | MGI Sequence Detail 12455 C57BL/6J ±  kb
    transcript ENSMUST00000062944 Ensembl | MGI Sequence Detail 6940 Not Applicable  
    polypeptide ENSMUSP00000049532 Ensembl | MGI Sequence Detail 440 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      Genomic 3
      cDNA 6
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11851, MGD-MRK-16756, MGI:2660661, MGI:96803
    References
    more
    • Summaries
      All 112
      Developmental Gene Expression 15
      Diseases 4
      Gene Ontology 9
      Phenotypes 55
    • Earliest
      J:21950 Favor J, A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res. 1983 Aug;110(2):367-82
    • Latest
      J:343554 Sun Q, et al., JAM-C Is Important for Lens Epithelial Cell Proliferation and Lens Fiber Maturation in Murine Lens Development. Invest Ophthalmol Vis Sci. 2023 Dec 1;64(15):15
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory