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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, Lop10
  • Feature Type
    protein coding gene
  • IDs
    MGI:99953
    NCBI Gene: 14616
  • Gene Overview
    MyGene.info: GJA8
Location & Maps
more
  • Sequence Map
    Chr3:96913566-96926020 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12455 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 42.03 cM
  • Mapping Data
    13 experiments
Homology
more
  • Human Ortholog
    GJA8, gap junction protein alpha 8
  • Vertebrate Orthologs
    10
  • Human Ortholog
    GJA8, gap junction protein alpha 8
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CAE, CAE1, CTRCT1, CX50, CZP1, MP70
  • Links
    NCBI Gene ID: 2703
    neXtProt AC: NX_P48165

  • Chr Location
    1q21.1; chr1:147902820-147915287 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3857
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: GJA8
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Gja8 mouse models; 2 with human GJA8 associations

Human Disease Mouse Models
       Cataract 1, Multiple Types; CTRCT1   OMIM: 116200 View 4 models
       Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb   OMIM: 612474
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
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  • Phenotype Summary
    18 phenotypes from 10 alleles in 15 genetic backgrounds
    4 phenotypes from multigenic genotypes
    5 images
    39 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.
  • All Mutations and Alleles
    14
  • Chemically induced (ENU)
    3
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Spontaneous
    2
  • Targeted
    7
  • Genomic Mutations
    2 involving Gja8
  • Incidental Mutations
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
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  • 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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000053187 VEGA Gene Model | MGI Sequence Detail 12455 C57BL/6J ±  kb
transcript OTTMUST00000132914 VEGA | MGI Sequence Detail 6940 Not Applicable  
polypeptide OTTMUSP00000070788 VEGA | MGI Sequence Detail 440 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    152 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    Genomic 3
    cDNA 5
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-11851, MGD-MRK-16756, MGI:96803
References
more
  • Summaries
    All 82
    Developmental Gene Expression 9
    Diseases 3
    Gene Ontology 6
    Phenotypes 39
  • 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:227142 Pelletier RM, et al., Complementary expression and phosphorylation of Cx46 and Cx50 during development and following gene deletion in mouse and in normal and orchitic mink testes. Am J Physiol Regul Integr Comp Physiol. 2015 Aug 1;309(3):R255-76

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory