About   Help   FAQ
Gjb1
Gene Detail
Symbol

Name
ID
Gjb1
gap junction protein, beta 1
MGI:95719
Synonyms
connexin 32, connexin-32, Cx32, Gjb-1
Feature Type
protein coding gene
Genetic Map
Chromosome X
44.06 cM, cytoband D-F4
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
ChrX:101376378-101385629 bp, + strand
From VEGA annotation of GRCm38

  9252 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:137  Vertebrate Homology Class
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: GJB1
Gene Tree: Gjb1

Human
homologs
GJB1, gap junction protein, beta 1, 32kDa
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2705
neXtProt AC: NX_P08034

Human Synonyms: CMTX, CMTX1, CX32

Human Chr (Location): Xq13.1; chrX:71215212-71225215 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human GJB1

Mutations,
alleles, and
phenotypes
All mutations/alleles(36) : Gene trapped(32) Targeted(4)
 
Homozygotes for a targeted null mutation exhibit a modest decrease in body weight, enhanced neuronal sensitivity to ischemic insults, and increased susceptibility to both spontaneous and chemically-induced liver tumors.
 
Human Diseases Modeled in Mice Using Gjb1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Gjb1 interacts with 85 markers (Mir26a-2, Mir26b, Mir34b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process cell communication, protein oligomerization, ...
Component cell junction, connexon complex, ...
Function gap junction channel activity, protein homodimerization activity
External Resources: FuncBase
Expression
Literature Summary: (27 records)
Data Summary: Results (143)    Tissues (81)    Images (55)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 4
RNA in situ 53
Northern blot 8
RT-PCR 12
Nuclease S1 66
cDNA source data(129)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gjb1 ; ZFIN cx27.5    NEW 
Molecular
reagents
All nucleic(138) Genomic(3) cDNA(130) Primer pair(3) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000018210 (Evidence)
Ensembl Gene Model ENSMUSG00000047797 (Evidence)
Entrez Gene 14618 (Evidence)
UniGene 21198
DFCI TC1576007
DoTS DT.101256394, DT.101362545, DT.535303, DT.94411230, DT.97412176
NIA Mouse Gene Index U020067
Consensus CDS Project CCDS30314.1
International Mouse Phenotyping Consortium Status Gjb1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018210 VEGA Gene Model | MGI Sequence Detail 9252 C57BL/6J ±  kb
transcript OTTMUST00000043977 VEGA | MGI Sequence Detail 1513 Not Applicable 
polypeptide OTTMUSP00000019746 VEGA | MGI Sequence Detail 283 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(8) UniProt(1)
Polymorphisms
RFLP(2) : SNPs within 2kb(29 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR002267 Gap junction beta-1 protein (Cx32)
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000007997 gap junction beta-1 protein
References
(Earliest) J:11073 Willecke K, et al., Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol. 1990 Dec;53(2):275-80
(Latest) J:220861 Groh J, et al., CSF-1-activated macrophages are target-directed and essential mediators of schwann cell dedifferentiation and dysfunction in Cx32-deficient mice. Glia. 2015 Jun;63(6):977-86
All references(167)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-10091, MGD-MRK-10096, MGI:2147847

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/21/2015
MGI 5.22
The Jackson Laboratory