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Gjc2
Gene Detail
 Symbol
Name
ID
Gjc2
gap junction protein, gamma 2
MGI:2153060
Synonyms B230382L12Rik, connexin 47, Cx47, Gja12
Feature Type protein coding gene
Genetic Map
Chromosome 11
37.05 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:59175568-59183213 bp, - strand
From VEGA annotation of GRCm38

  7646 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10715  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Gjc2

Human
homologs
Human Homolog GJC2, gap junction protein, gamma 2, 47kDa
NCBI Gene ID 57165
neXtProt AC  NX_Q5T442
Human Synonyms  CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44
Human Chr (Location)  1q42.13; chr1:228149714-228159826 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human GJC2
Alleles
and
phenotypes
All alleles(5) : Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for one null allele are viable and behaviorally normal with no CNS demyelination detected in the spinal cord. In contrast, mice homozygous for a different null allele display a conspicuous vacuolation of CNS nerve fibers, especially in the myelinated region of the optic nerve.
 
Human Diseases Modeled Using Mouse Gjc2 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process cell-cell signaling, cell communication, ...
Component cell junction, connexon complex, ...
Function gap junction channel activity
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (16)    Tissues (12)   
Theiler Stages: 22, 24, 26, 28
Assay TypeResults
Northern blot 16
cDNA source data(10)
External Resources: GEO   ArrayExpress
Molecular
reagents
All nucleic(12) Genomic(1) cDNA(10) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000005785 (Evidence)
Ensembl Gene ModelENSMUSG00000043448 (Evidence)
Entrez Gene118454 (Evidence)
UniGene40016
DFCITC1582645, TC1630937, TC1683646
DoTSDT.101707329, DT.102539876, DT.102549038, DT.97344687
NIA Mouse Gene IndexU032837
Consensus CDS ProjectCCDS24760.1
International Mouse Knockout Project StatusGjc2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005785 VEGA Gene Model | MGI Sequence Detail 7646 C57BL/6J ±  kb
transcript OTTMUST00000012805 VEGA | MGI Sequence Detail 2187 Not Applicable 
polypeptide OTTMUSP00000005949 VEGA | MGI Sequence Detail 440 Not Applicable 

For the selected sequences
All sequences(41) RefSeq(8) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(143 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000008005 gap junction gamma-2 protein
References (Earliest) J:70957 Sohl G, et al., The mouse gap junction gene connexin29 is highly expressed in sciatic nerve and regulated during brain development. Biol Chem. 2001 Jun;382(6):973-8
(Latest) J:184971 Tress O, et al., Panglial Gap Junctional Communication is Essential for Maintenance of Myelin in the CNS. J Neurosci. 2012 May 30;32(22):7499-7518
All references(43)
Other
accession IDs
MGI:2444935

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory