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; 1 chicken

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; chr1:228337415-228347527 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human GJC2

Alleles and phenotypes

All alleles(5) : Targeted(5)
 

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 Type	Results
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 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 Knockout Project Status	Gjc2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005785	VEGA Gene Model | MGI Sequence Detail	7646	C57BL/6J
transcript	OTTMUST00000012805	VEGA | MGI Sequence Detail	2187	Not Applicable
polypeptide	OTTMUSP00000005949	VEGA | MGI Sequence Detail	440	Not Applicable

All sequences(37) RefSeq(4) UniProt(2)

Polymorphisms

RFLP(1) : SNPs(14 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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