Gjb6 gap junction protein, beta 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjb6provided by MGI
Official Full Name: gap junction protein, beta 6provided by MGI
Primary source: MGI:MGI:107588
See related: Ensembl:ENSMUSG00000040055 AllianceGenome:MGI:107588
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: Cx30; Cxnf; D14Bwg0506e
Summary: Predicted to enable cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Acts upstream of or within ear morphogenesis and sensory perception of sound. Located in gap junction. Is expressed in bladder; spiral ligament; urinary system; and urothelium of bladder. Used to study Clouston syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Clouston syndrome; autosomal dominant nonsyndromic deafness 3B; autosomal recessive nonsyndromic deafness 1A; autosomal recessive nonsyndromic deafness 1B; and ectodermal dysplasia. Orthologous to human GJB6 (gap junction protein beta 6). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cortex adult (RPKM 16.5), bladder adult (RPKM 15.1) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 30.1 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (57360760..57370764, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (57123301..57133611, complement)

Chromosome 14 - NC_000080.7 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?

Connexins 30 and 43 expression changes in relation to age-related hearing loss.
Title: Connexins 30 and 43 expression changes in relation to age-related hearing loss.
A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
Title: A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study.
Upregulation of astroglial connexin 30 impairs hippocampal synaptic activity and recognition memory.
Title: Upregulation of astroglial connexin 30 impairs hippocampal synaptic activity and recognition memory.
Connexin 30 Deficiency Ameliorates Disease Progression at the Early Phase in a Mouse Model of Amyotrophic Lateral Sclerosis by Suppressing Glial Inflammation.
Title: Connexin 30 Deficiency Ameliorates Disease Progression at the Early Phase in a Mouse Model of Amyotrophic Lateral Sclerosis by Suppressing Glial Inflammation.
Astroglial Cx30 differentially impacts synaptic activity from hippocampal principal cells and interneurons.
Title: Astroglial Cx30 differentially impacts synaptic activity from hippocampal principal cells and interneurons.
Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain.
Title: Mutant Cx30-A88V mice exhibit hydrocephaly and sex-dependent behavioral abnormalities, implicating a functional role for Cx30 in the brain.
Neuronal Activity Drives Astroglial Connexin 30 in Perisynaptic Processes and Shapes Its Functions.
Title: Neuronal Activity Drives Astroglial Connexin 30 in Perisynaptic Processes and Shapes Its Functions.
A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.
Title: A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.
data suggest that the Cx30-A88V mutant confers long-term hearing protection and prevention of hair cell death, possibly via a feedback mechanism that leads to the reduction of total Cx30 gap junction expression in the cochlea.
Title: The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss.
Cx30 regulates aberrant neural network activity via control of astroglia and gap junction biochemical coupling.
Title: Astroglial Cx30 sustains neuronal population bursts independently of gap-junction mediated biochemical coupling.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Variation

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Alleles

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

Endonuclease-mediated (5)
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

AA958971 (e-PCR)
- UniSTS:160394

D14Bwg0506e (e-PCR), detects polymorphism
- UniSTS:141978

RH125213 (e-PCR)
- UniSTS:162035

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin filament binding	IEA Inferred from Electronic Annotation more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info
enables beta-tubulin binding	IEA Inferred from Electronic Annotation more info
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity involved in cell communication by electrical coupling	IEA Inferred from Electronic Annotation more info
enables gap junction channel activity involved in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell communication by electrical coupling	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 glucose stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gap junction assembly	IEA Inferred from Electronic Annotation more info
involved_in gap junction assembly	ISO Inferred from Sequence Orthology more info
involved_in gap junction-mediated intercellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gap junction-mediated intercellular transport	IEA Inferred from Electronic Annotation more info
involved_in gap junction-mediated intercellular transport	ISO Inferred from Sequence Orthology more info
involved_in inner ear development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in response to electrical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in actin filament	IEA Inferred from Electronic Annotation more info
located_in actin filament	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info
located_in apical plasma membrane	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in gap junction	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gap junction beta-6 protein

Names: connexin f; connexin-30; gap junction membrane channel protein beta 6

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_001010937.3 → NP_001010937.1 gap junction beta-6 protein

See identical proteins and their annotated locations for NP_001010937.1

Status: VALIDATED

Source sequence(s)

AC119952

Consensus CDS

CCDS27154.1

UniProtKB/Swiss-Prot

P70689

UniProtKB/TrEMBL

Q3URC5, Q3UYK0

Related

ENSMUSP00000035630.9, ENSMUST00000039380.9

Conserved Domains (1) summary

pfam00029
Location:2 → 215

Connexin
NM_001271663.2 → NP_001258592.1 gap junction beta-6 protein

See identical proteins and their annotated locations for NP_001258592.1

Status: VALIDATED

Source sequence(s)

AC119952

Consensus CDS

CCDS27154.1

UniProtKB/Swiss-Prot

P70689

UniProtKB/TrEMBL

Q3URC5, Q3UYK0

Conserved Domains (1) summary

pfam00029
Location:2 → 215

Connexin
NM_001424448.1 → NP_001411377.1 gap junction beta-6 protein

Status: VALIDATED

Source sequence(s)

AC119952

UniProtKB/Swiss-Prot

P70689

UniProtKB/TrEMBL

Q3URC5
NM_001424449.1 → NP_001411378.1 gap junction beta-6 protein

Status: VALIDATED

Source sequence(s)

AC119952

UniProtKB/Swiss-Prot

P70689

UniProtKB/TrEMBL

Q3URC5
NM_001424450.1 → NP_001411379.1 gap junction beta-6 protein

Status: VALIDATED

Source sequence(s)

AC119952

UniProtKB/Swiss-Prot

P70689

UniProtKB/TrEMBL

Q3URC5