Gjb4 gap junction protein, beta 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjb4provided by MGI
Official Full Name: gap junction protein, beta 4provided by MGI
Primary source: MGI:MGI:95722
See related: Ensembl:ENSMUSG00000046623 AllianceGenome:MGI:95722
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: Cxnb; Gjb-4; Cx30.3; Cnx30.3
Summary: Enables gap junction channel activity. Involved in cell-cell signaling and gap junction-mediated intercellular transport. Acts upstream of or within olfactory behavior and sensory perception of smell. Is integral component of plasma membrane. Part of connexin complex. Is expressed in early conceptus; gut; male reproductive gland or organ; metanephros; and skin. Human ortholog(s) of this gene implicated in erythrokeratodermia variabilis and erythrokeratodermia variabilis et progressiva 2. Orthologous to human GJB4 (gap junction protein beta 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in genital fat pad adult (RPKM 2.8), stomach adult (RPKM 2.7) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 61.51 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (127234892..127247929, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (127341109..127354139, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Overexpression of Gjb4 impairs cell proliferation and insulin secretion in primary islet cells.
Title: Overexpression of Gjb4 impairs cell proliferation and insulin secretion in primary islet cells.
These indicate possible involvement of Cx30.3 in the rapid formation and/or decomposition of gap junctions; implying a functional relay between Cx30.3 and other systems such as adhesion proteins.
Title: Connexin30.3 is expressed in mouse embryonic stem cells and is responsive to leukemia inhibitory factor.
Cx30 regulates cell adhesion and migration; its modulation of glutamate transport occurs independently of its channel function and is mediated by morphological changes controlling insertion of astroglial processes into synaptic clefts.
Title: Connexin 30 sets synaptic strength by controlling astroglial synapse invasion.
Appears to be constitutively expressed in certain renal tubular segments and cells.
Title: Connexin 30.3 is expressed in the kidney but not regulated by dietary salt or high blood pressure.
Connexin30.3-deficient mice exhibit reduced behavioural responses to a vanilla scent.
Title: Characterization of connexin30.3-deficient mice suggests a possible role of connexin30.3 in olfaction.

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Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

Gjb4 (e-PCR), detects polymorphism
- UniSTS:226050

Gjb5 (e-PCR), detects polymorphism
- UniSTS:226051

M91443 (e-PCR)
- UniSTS:124999

Gjb4 (e-PCR), detects polymorphism
- UniSTS:496775

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
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 cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in gap junction-mediated intercellular transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within olfactory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of smell	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	IDA Inferred from Direct Assay more info	PubMed
located_in gap junction	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: gap junction beta-4 protein

Names: connexin b; connexin-30.3; gap junction membrane channel protein beta 4

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_001420868.1 → NP_001407797.1 gap junction beta-4 protein isoform 2

Status: VALIDATED

Source sequence(s)

AL626768
NM_001420869.1 → NP_001407798.1 gap junction beta-4 protein isoform 1

Status: VALIDATED

Source sequence(s)

AL626768

UniProtKB/Swiss-Prot

Q02738

UniProtKB/TrEMBL

A0A654ICD1
NM_008127.5 → NP_032153.1 gap junction beta-4 protein isoform 1

See identical proteins and their annotated locations for NP_032153.1

Status: VALIDATED

Source sequence(s)

AL626768

Consensus CDS

CCDS18669.1

UniProtKB/Swiss-Prot

Q02738

UniProtKB/TrEMBL

A0A654ICD1, Q8C677

Related

ENSMUSP00000053307.2, ENSMUST00000060419.2

Conserved Domains (1) summary

pfam00029
Location:2 → 210

Connexin

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

127234892..127247929 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017319976.3 → XP_017175465.1 gap junction beta-4 protein isoform X1

UniProtKB/TrEMBL

Q8C677

Conserved Domains (1) summary

pfam00029
Location:2 → 210

Connexin