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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

HCOP human homology predictions: GJB3
Gene Tree: Gjb3

Human
homologs
GJB3, gap junction protein, beta 3, 31kDa
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2707
neXtProt AC: NX_O75712

Human Synonyms: CX31, DFNA2, DFNA2B, EKV

Human Chr (Location): 1p34; chr1:34781189-34786366 (+)  GRCh38.p2

Disease Associations: (4) Diseases Associated with Human GJB3

Mutations,
alleles, and
phenotypes
All mutations/alleles(118) : Gene trapped(113) Targeted(5)
Genomic Mutations involving Gjb3 (1)
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 in Mice Using Gjb3 (1)    Mutations 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: (21 records)
Data Summary: Results (141)    Tissues (64)    Images (40)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 23
RNA in situ 90
Northern blot 1
Western blot 2
RT-PCR 25
cDNA source data(63)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase gjb3 ; ZFIN cx35.4    NEW 
Molecular
reagents
All nucleic(69) cDNA(63) Primer pair(5) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000009382 (Evidence)
Ensembl Gene Model ENSMUSG00000042367 (Evidence)
Entrez Gene 14620 (Evidence)
UniGene 90003
DFCI TC1577602, TC1622455, TC1748864
DoTS DT.110833969, DT.40185449, DT.491166
NIA Mouse Gene Index U025533
Consensus CDS Project CCDS18668.1
International Mouse Phenotyping Consortium Status Gjb3
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:215340 Kibschull M, et al., Connexin31.1 (gjb5) deficiency blocks trophoblast stem cell differentiation and delays placental development. Stem Cells Dev. 2014 Nov 1;23(21):2649-60
All references(68)
Disease annotation references (2)
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
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory