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Gjb3 gap junction protein, beta 3 [ Mus musculus (house mouse) ]

Gene ID: 14620, updated on 5-Jan-2023

Summary

Official Symbol
Gjb3provided by MGI
Official Full Name
gap junction protein, beta 3provided by MGI
Primary source
MGI:MGI:95721
See related
Ensembl:ENSMUSG00000042367 AllianceGenome:MGI:95721
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Cx31; Cxnc; Cnx31; Gjb-3; D4Wsu144e
Summary
Predicted to enable gap junction channel activity. Acts upstream of or within placenta development. Located in cytoplasm and gap junction. Is expressed in several structures, including alimentary system; early conceptus; integumental system; reproductive system; and sensory organ. Used to study erythrokeratodermia variabilis. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 2B; autosomal recessive nonsyndromic deafness 1A; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1. Orthologous to human GJB3 (gap junction protein beta 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in colon adult (RPKM 31.9), placenta adult (RPKM 25.1) and 8 other tissues See more
Orthologs
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Genomic context

See Gjb3 in Genome Data Viewer
Location:
4 D2.2; 4 61.48 cM
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (127219028..127224629, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (127325235..127330836, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene crumbs homolog 1 pseudogene Neighboring gene gap junction protein, alpha 4 Neighboring gene predicted gene, 40251 Neighboring gene gap junction protein, beta 4 Neighboring gene gap junction protein, beta 5

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell communication IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within placenta development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell junction ISO
Inferred from Sequence Orthology
more info
 
located_in cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
part_of connexin complex IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in gap junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in gap junction ISO
Inferred from Sequence Orthology
more info
 
located_in intracellular membrane-bounded organelle ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gap junction beta-3 protein
Names
connexin c
connexin-31
gap junction membrane channel protein beta 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001160012.2NP_001153484.1  gap junction beta-3 protein

    See identical proteins and their annotated locations for NP_001153484.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL626768
    Consensus CDS
    CCDS18668.1
    UniProtKB/Swiss-Prot
    P28231
    UniProtKB/TrEMBL
    A0A654ICX2, A0A8C6HDM8
    Related
    ENSMUSP00000046755.4, ENSMUST00000046532.4
    Conserved Domains (1) summary
    pfam00029
    Location:2211
    Connexin
  2. NM_008126.3NP_032152.1  gap junction beta-3 protein

    See identical proteins and their annotated locations for NP_032152.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL626768
    Consensus CDS
    CCDS18668.1
    UniProtKB/Swiss-Prot
    P28231
    UniProtKB/TrEMBL
    A0A654ICX2, A0A8C6HDM8
    Related
    ENSMUSP00000101697.3, ENSMUST00000106091.9
    Conserved Domains (1) summary
    pfam00029
    Location:2211
    Connexin

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    127219028..127224629 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)