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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

HCOP human homology predictions: GJC2
Gene Tree: Gjc2

Human
homologs
GJC2, gap junction protein, gamma 2, 47kDa
Orthology source: HGNC, HomoloGene

IDs:
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.p2

Disease Associations: (3) Diseases Associated with Human GJC2

Mutations,
alleles, and
phenotypes
All mutations/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 in Mice Using Gjc2 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Gjc2 interacts with 85 markers (Mir15a, Mir15b, Mir16-1, ...)
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 (17)    Tissues (14)    Tissue x Stage Matrix (view)
Assay TypeResults
Northern blot 16
RT-PCR 1
cDNA source data(10)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: GEISHA GJC2 ; Xenbase gjc2    NEW 
Molecular
reagents
All nucleic(14) Genomic(1) cDNA(10) Primer pair(2) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000005785 (Evidence)
Ensembl Gene Model ENSMUSG00000043448 (Evidence)
Entrez Gene 118454 (Evidence)
UniGene 40016
DFCI TC1582645, TC1630937, TC1683646
DoTS DT.101707329, DT.102539876, DT.102549038, DT.97344687
NIA Mouse Gene Index U032837
Consensus CDS Project CCDS24760.1
International Mouse Phenotyping Consortium Status Gjc2
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(39) RefSeq(6) 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:219594 Schiza N, et al., Transgenic replacement of Cx32 in gap junction-deficient oligodendrocytes rescues the phenotype of a hypomyelinating leukodystrophy model. Hum Mol Genet. 2015 Apr 1;24(7):2049-64
All references(42)
Disease annotation references (1)
Other
accession IDs
MGI:2444935

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
08/18/2015
MGI 6.0
The Jackson Laboratory