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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 dog; 1 chicken; 1 zebrafish

Gene Tree: Gjb1

Human
homologs
Human Homolog GJB1, gap junction protein, beta 1, 32kDa
NCBI Gene ID 2705
neXtProt AC  NX_P08034
Human Synonyms  CMTX, CMTX1, CX32
Human Chr (Location)  Xq13.1; chrX:71215212-71225215 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human GJB1
Alleles
and
phenotypes
All alleles(35) : Gene trapped(32) Targeted(3)
 
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 Using Mouse Gjb1 (1)    Alleles Annotated to Human Diseases(1)   
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: (26 records)
Data Summary: Results (139)    Tissues (66)    Images (55)
Theiler Stages: 1, 7, 9, 11, 15, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 2
RNA in situ 53
Northern blot 8
RT-PCR 10
Nuclease S1 66
cDNA source data(129)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(137) Genomic(3) cDNA(130) Primer pair(2) Other(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000018210 (Evidence)
Ensembl Gene ModelENSMUSG00000047797 (Evidence)
Entrez Gene14618 (Evidence)
UniGene21198
DFCITC1576007
DoTSDT.535303, DT.97412176
NIA Mouse Gene IndexU020067
Consensus CDS ProjectCCDS30314.1
International Mouse Knockout Project StatusGjb1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018210 VEGA Gene Model | MGI Sequence Detail 9252 C57BL/6J ±  kb
transcript OTTMUST00000043976 VEGA | MGI Sequence Detail 1585 Not Applicable 
polypeptide OTTMUSP00000019745 VEGA | MGI Sequence Detail 283 Not Applicable 

For the selected sequences
All sequences(34) RefSeq(6) 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:209146 Klein D, et al., Nonuniform molecular features of myelinating Schwann cells in models for CMT1: distinct disease patterns are associated with NCAM and c-Jun upregulation. Glia. 2014 May;62(5):736-50
All references(168)
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
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory