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Gjb3
Gene Detail
 Symbol
Name
ID
Gjb3
gap junction protein, beta 3
MGI:95721
Synonyms Cnx31, connexin 31, Cx31, D4Wsu144e, Gjb-3
Feature Type protein coding gene
Genetic Map
Chromosome 4
61.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr4:127325235-127330844 bp, - strand
From VEGA annotation of GRCm38

  5610 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7338  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Gjb3

Human
homologs
Human Homolog GJB3, gap junction protein, beta 3, 31kDa
NCBI Gene ID 2707
neXtProt AC  NX_O75712
Human Synonyms  CX31, DFNA2, DFNA2B, EKV
Human Chr (Location)  1p34; chr1:34781189-34786366 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human GJB3
Mutations,
alleles, and
phenotypes
All mutations/alleles(117) : Gene trapped(113) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null mice exhibit partial lethality and transient placental dysmorphogenesis but no impairment in hearing or skin differentiation.
 
Human Diseases Modeled Using Mouse Gjb3 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Gjb3 interacts with 76 markers (Mir7b, Mir17, Mir20b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process cell communication, placenta development, ...
Component cell-cell junction, cell junction, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (20 records)
Data Summary: Results (133)    Tissues (56)    Images (40)
Theiler Stages: 13, 20, 22, 23, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 23
RNA in situ 90
Northern blot 1
Western blot 2
RT-PCR 17
cDNA source data(63)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(69) cDNA(63) Primer pair(5) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000009382 (Evidence)
Ensembl Gene ModelENSMUSG00000042367 (Evidence)
Entrez Gene14620 (Evidence)
UniGene90003
DFCITC1577602, TC1622455, TC1748864
DoTSDT.110833969, DT.40185449, DT.491166
NIA Mouse Gene IndexU025533
Consensus CDS ProjectCCDS18668.1
International Mouse Knockout Project StatusGjb3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009382 VEGA Gene Model | MGI Sequence Detail 5610 C57BL/6J ±  kb
transcript OTTMUST00000021361 VEGA | MGI Sequence Detail 1623 Not Applicable 
polypeptide OTTMUSP00000009769 VEGA | MGI Sequence Detail 270 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(46 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR002269 Gap junction beta-3 protein (Cx31)
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000007999 gap junction beta-3 protein
References (Earliest) J:858 Willecke K, et al., The diversity of connexin genes encoding gap junctional proteins. Eur J Cell Biol. 1991 Oct;56(1):1-7
(Latest) J:194978 Reichmann J, et al., The genome-defence gene Tex19.1 suppresses LINE-1 retrotransposons in the placenta and prevents intra-uterine growth retardation in mice. Hum Mol Genet. 2013 May 1;22(9):1791-806
All references(69)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-10093, MGD-MRK-10098, MGD-MRK-35792, MGI:107326

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
08/26/2014
MGI 5.19
The Jackson Laboratory