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

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; colorectal adenocarcinoma; erythrokeratodermia variabilis; and erythrokeratodermia variabilis et progressiva 1. Orthologous to human GJB3 (gap junction protein beta 3). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in colon adult (RPKM 31.9), placenta adult (RPKM 25.1) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 61.48 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (127219028..127224633, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (127325235..127330836, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impairment of alpha-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion.
Title: Impairment of α-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion.
Comparative Analysis of Cx31 and Cx43 in Differentiation-Competent Rodent Keratinocytes.
Title: Comparative Analysis of Cx31 and Cx43 in Differentiation-Competent Rodent Keratinocytes.
Prostaglandin E stimulates Connexin isoforms via GSK-3beta/beta-catenin via EP2-receptor-dependent cAMP/PKA and PI3K/Akt in mouse embryonic stem cells.
Title: Prostaglandin E₂ maintains mouse ESC undifferentiated state through regulation of connexin31, connexin43 and connexin45 expression: involvement of glycogen synthase kinase 3β/β-catenin.
Connexin 31-deficient trophoblast stem cells revealed a shift in giant cell differentiation from Prl3d1 expressing parietal giant cells to Ctsq, Prl3b1, and Prl2c2-positive giant cells.
Title: Connexin 31 (GJB3) deficiency in mouse trophoblast stem cells alters giant cell differentiation and leads to loss of oxygen sensing.
During trophoblast cell lineage differentiation, the Cx31 gap junction channel is involved in maintaining the proliferative diploid trophoblast cell population.
Title: Connexin31-deficient trophoblast stem cells: a model to analyze the role of gap junction communication in mouse placental development.
Mutant cx31 showed reduced phosphorylation levels compared to Cx31 wild type, indicating a pivotal role of serine residue 266 for Cx31 phosphorylation, but didn't interfere with correct intracellular trafficking of gap junction proteins.
Title: Exchange of serine residues 263 and 266 reduces the function of mouse gap junction protein connexin31 and exhibits a dominant-negative effect on the wild-type protein in HeLa cells.
Expression is regulated by distinct mechanisms in embryonic stem cells and keratinocytes.
Title: Expression of the mouse gap junction gene Gjb3 is regulated by distinct mechanisms in embryonic stem cells and keratinocytes.
Cx31/Cx43 double-deficient mice exhibit the known phenotypes of the single-knockout strains but no combined effects
Title: Cx31 and Cx43 double-deficient mice reveal independent functions in murine placental and skin development.
Cx31 and Cx43 proteins functionally interact, possibly by forming heteromeric channels in the epidermis.
Title: The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gjb3 (e-PCR), detects polymorphism
- UniSTS:532233

UniSTS:472855 (e-PCR)
- UniSTS:472855

Gjb3 (e-PCR), detects polymorphism
- UniSTS:472855

BB414411 (e-PCR)
- UniSTS:207682

Gjb3 (e-PCR), detects polymorphism
- UniSTS:143213

Gjb3 (e-PCR), detects polymorphism
- UniSTS:496774

RH125752 (e-PCR)
- UniSTS:142497

RH124654 (e-PCR)
- UniSTS:161476

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within placenta development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skin development	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IEA Inferred from Electronic Annotation more info

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	IBA Inferred from Biological aspect of Ancestor more info
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	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info

General protein information

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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)

NM_001160012.2 → NP_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

Related

ENSMUSP00000046755.4, ENSMUST00000046532.4

Conserved Domains (1) summary

pfam00029
Location:2 → 211

Connexin
NM_008126.3 → NP_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

Related

ENSMUSP00000101697.3, ENSMUST00000106091.9

Conserved Domains (1) summary

pfam00029
Location:2 → 211

Connexin