Gjb6 gap junction protein, beta 6 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gjb6provided by RGD
Official Full Name: gap junction protein, beta 6provided by RGD
Primary source: RGD:621830
See related: EnsemblRapid:ENSRNOG00000022116 AllianceGenome:RGD:621830
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Cx30; Cxnf
Summary: Predicted to enable cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Involved in several processes, including cellular response to glucose stimulus; response to electrical stimulus; and response to lipopolysaccharide. Located in apical plasma membrane and gap junction. Biomarker of borna disease; status epilepticus; transient cerebral ischemia; ureteral obstruction; and visual epilepsy. 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 Brain (RPKM 43.3) and Thymus (RPKM 41.6) See more
Orthologs: human mouse all
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Genomic context

Location:: 15p12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	15	NC_086033.1 (35400147..35410649, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	15	NC_051350.1 (31284561..31294552, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	15	NC_005114.4 (37400888..37411656, complement)

Chromosome 15 - NC_086033.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Connexin 30 mediated rewiring of glucose metabolism in rat C6 xenograft and grades of glioma.
Title: Connexin 30 mediated rewiring of glucose metabolism in rat C6 xenograft and grades of glioma.
Investigation of stemness-related CD133 and cMyc in human samples and rat xenografts exhibited a reciprocal relationship between Cx30 and IGF-1R in the low and high grades (HG) of glioma. Cx30 was completely abolished in HG; levels of IGF-1R, CD133 and cMyc expression were positively correlated with HG. Cx30 transfection could attenuate the malignant burden of glioma in rat xenografts.
Title: Implication of connexin30 on the stemness of glioma: connexin30 reverses the malignant phenotype of glioma by modulating IGF-1R, CD133 and cMyc.
Study demonstrates that connexin 30 has the potential to alter the Insulin-like growth factor-1 receptor mediated pathway thereby influencing the growth, proliferation and migration of glioma cells.
Title: Connexin 30 downregulates Insulin-like growth factor receptor-1, abolishes Erk and potentiates effects of an IGF-R inhibitor in a glioma cell line.
The Cx30 astrocytic network localized to perivascular regions in the hippocampus is overexpressed at the initiation of kindling
Title: Expression of connexin 30 and connexin 32 in hippocampus of rat during epileptogenesis in a kindling model of epilepsy.
These results illustrate that astroglial connexins 30 and 43 contribute to hypothalamic GS.
Title: Hypothalamic astroglial connexins are required for brain glucose sensing-induced insulin secretion.
Connexin 30 expression and frequency of connexin heterogeneity in astrocyte gap junction plaques increase with age in the rat retina.
Title: Connexin 30 expression and frequency of connexin heterogeneity in astrocyte gap junction plaques increase with age in the rat retina.
Transcriptional overexpression of hippocampal Cx30 and Cx32 could be an adaptive response to production of intracellular toxic molecules but it is not accompanied with post- transcriptional overexpression and might have no functional impact.
Title: Upregulation of connexins 30 and 32 gap junctions in rat hippocampus at transcription level by chronic central injection of lipopolysaccharide.
Cx30 was expressed only in grey matter astrocytes and apoptotic neurons with distinct regional patterns in developing and adult brain after kainate treatment
Title: Connexin-30 mRNA is up-regulated in astrocytes and expressed in apoptotic neuronal cells of rat brain following kainate-induced seizures.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables actin filament binding	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
enables microtubule binding	ISO Inferred from Sequence Orthology more info

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	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within ear morphogenesis	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
involved_in inner ear development	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in response to electrical stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to lipopolysaccharide	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info
involved_in transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in actin filament	ISO Inferred from Sequence Orthology more info
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in cell junction	ISO Inferred from Sequence Orthology more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor 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; gap junction membrane channel protein beta 6; gap junction protein, beta 6 (connexin 30)

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_001393806.1 → NP_001380735.1 gap junction beta-6 protein

Status: VALIDATED

Source sequence(s)

JAXUCZ010000015

UniProtKB/TrEMBL

A6KHB2, A6KHB3, Q6AZ42, Q9R140

Related

ENSRNOP00000071038.1, ENSRNOT00000081757.3

Conserved Domains (1) summary

pfam00029
Location:2 → 215

Connexin
NM_053388.2 → NP_445840.2 gap junction beta-6 protein

Status: VALIDATED

Source sequence(s)

JAXUCZ010000015

UniProtKB/TrEMBL

A6KHB2, A6KHB3, Q6AZ42, Q9R140

Conserved Domains (1) summary

pfam00029
Location:2 → 215

Connexin