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Gja6 Gene Detail
Summary
  • Symbol
    Gja6
  • Name
    gap junction protein, alpha 6
  • Synonyms
    A530015O12Rik, Cnx33, connexin 33, Cx33, Gja-6
  • Feature Type
    protein coding gene
  • IDs
    MGI:95717
    NCBI Gene: 414089
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:159685112-159690048 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 73.95 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    143 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95717
 protein coding gene ChrX:159685112-159690048 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036235
 protein coding gene ChrX:158836540-158841478 (-)
A/J MGP_AJ_G0036205
 protein coding gene ChrX:158096532-158101466 (-)
AKR/J MGP_AKRJ_G0036133
 protein coding gene ChrX:163106728-163111668 (-)
BALB/cJ MGP_BALBcJ_G0036198
 protein coding gene ChrX:156164530-156169466 (-)
C3H/HeJ MGP_C3HHeJ_G0035904
 protein coding gene ChrX:159237994-159242930 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036720
 protein coding gene ChrX:163566181-163571117 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033542
 protein coding gene ChrX:149311508-149316394 (-)
CAST/EiJ MGP_CASTEiJ_G0035193
 protein coding gene ChrX:138250625-138255542 (-)
CBA/J MGP_CBAJ_G0035879
 protein coding gene ChrX:168214399-168219335 (-)
DBA/2J MGP_DBA2J_G0036045
 protein coding gene ChrX:157047814-157052750 (-)
FVB/NJ MGP_FVBNJ_G0035976
 protein coding gene ChrX:156165474-156170410 (-)
LP/J MGP_LPJ_G0036130
 protein coding gene ChrX:160014686-160019624 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0036008
 protein coding gene ChrX:176938470-176943406 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036761
 protein coding gene ChrX:158387302-158392238 (-)
PWK/PhJ MGP_PWKPhJ_G0034891
 protein coding gene ChrX:135097359-135102278 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034712
 protein coding gene ChrX:138659621-138665577 (-)
WSB/EiJ MGP_WSBEiJ_G0035328
 protein coding gene ChrX:156359037-156363976 (-)



Homology
more
  • Human Ortholog
    GJA1, gap junction protein alpha 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJA1, gap junction protein alpha 1
  • Synonyms
    AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA
  • Links
    NCBI Gene ID: 2697
    neXtProt AC: NX_P17302
    UniProt: P17302

  • Chr Location
    6q22.31; chr6:121435595-121449727 (+)  GRCh38
  • Human Ortholog
    GJA6P, gap junction protein alpha 6, pseudogene
  • Links
    NCBI Gene ID: 100126825

  • Chr Location
    Xp22.13; chrX:18534866-18536120 (+)  GRCh38
Human Diseases
more
  • Diseases
    8 with human GJA1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
 View 5 models
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    3
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
    708
  • Tissues
    2
  • cDNA Data
    6
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 414089 NCBI Gene Model | MGI Sequence Detail 4937 C57BL/6J ±  kb
transcript NM_001001496 RefSeq | MGI Sequence Detail 2017 ZRU/MplStud  
polypeptide Q6S5G4 UniProt | EBI | MGI Sequence Detail 283 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 12
    Genomic 3
    cDNA 6
    Primer pair 2
    Other 1

    Microarray probesets 1
Other
Accession IDs
less
MGD-MRK-10083, MGD-MRK-10089, MGI:3041179
References
more
  • Summaries
    All 31
    Developmental Gene Expression 2
    Gene Ontology 3
    Phenotypes 3
  • Earliest
    J:2596 Haefliger JA, et al., Four novel members of the connexin family of gap junction proteins. Molecular cloning, expression, and chromosome mapping. J Biol Chem. 1992 Jan 25;267(3):2057-64
  • Latest
    J:317598 Ito A, et al., Adhesion molecule CADM1 contributes to gap junctional communication among pancreatic islet alpha-cells and prevents their excessive secretion of glucagon. Islets. 2012 Jan-Feb;4(1):49-55
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
12/10/2024
MGI 6.24 		The Jackson Laboratory