Gjb2 gap junction protein, beta 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Gjb2provided by RGD
Official Full Name: gap junction protein, beta 2provided by RGD
Primary source: RGD:728891
See related: Ensembl:ENSRNOG00000008855 AllianceGenome:RGD:728891
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: Cx26; Cxne; CXN-26
Summary: Enables gap junction channel activity. Involved in several processes, including cellular response to glucagon stimulus; reproductive structure development; and response to steroid hormone. Located in several cellular components, including astrocyte projection; gap junction; and lateral plasma membrane. Used to study hepatocellular carcinoma and lung adenocarcinoma. Biomarker of autoimmune thyroiditis; extrahepatic cholestasis; ischemia; sensorineural hearing loss; and urethral obstruction. Human ortholog(s) of this gene implicated in Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; nonsyndromic deafness (multiple); and palmoplantar keratoderma-deafness syndrome. Orthologous to human GJB2 (gap junction protein beta 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Kidney (RPKM 293.4), Liver (RPKM 136.3) and 4 other tissues 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 (35375977..35393817, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	15	NC_051350.1 (31260390..31278222, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	15	NC_005114.4 (37377313..37394494, 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
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?

Heart and liver connexin expression related to the first stage of aging: A study on naturally aged animals.
Title: Heart and liver connexin expression related to the first stage of aging: A study on naturally aged animals.
These results demonstrate that chronic prenatal hypoxia caused hearing impairment, and suggest that promoter region hypermethylation and expression downregulation of Cx26 underlie the mechanism of action
Title: Chronic prenatal hypoxia impairs cochlear development, a mechanism involving connexin26 expression and promoter methylation.
Supplementation with vitamin E, with or without caloric restriction, upregulated the mRNA expression of Cx26, N-cad, E-cad and genes involved in cholesterol metabolism, suggesting the maintenance of hepatic homeostasis.
Title: Vitamin E and caloric restriction promote hepatic homeostasis through expression of connexin 26, N-cad, E-cad and cholesterol metabolism genes.
Increased Rat Placental Fatty Acid, but Decreased Amino Acid and Glucose Transporters Potentially Modify Intrauterine Programming
Title: Increased Rat Placental Fatty Acid, but Decreased Amino Acid and Glucose Transporters Potentially Modify Intrauterine Programming.
SP1 and TFAP2A regulate Gjb2 promoter activity during epididymal differentiation in rat.
Title: Role of Specificity Protein-1 and Activating Protein-2 Transcription Factors in the Regulation of the Gap Junction Protein Beta-2 Gene in the Epididymis of the Rat.
the role of the charged residues at the end of TM-1 in voltage sensing in Cx26, Cx46, and Cx50.
Title: Charged Residues at the First Transmembrane Region Contribute to the Voltage Dependence of the Slow Gate of Connexins.
Reduced expression of Connexin26 and its DNA promoter hypermethylation in the inner ear of mimetic aging rats might contribute to the development of presbycusis.
Title: Reduced expression of Connexin26 and its DNA promoter hypermethylation in the inner ear of mimetic aging rats induced by d-galactose.
the surface topography of Cx26 hemichannels
Title: Atomic force microscopy shows connexin26 hemichannel clustering in purified membrane fragments.
Increased expression of connexin 26 protein and mRNA expression in the cochlear lateral wall were detected 3 h after the single injection of gentamicin.
Title: Gentamicin affects connexin 26 expression in the cochlear lateral wall.
Changes in Cx43 expression following engraftment of neural stem cells to striatal tissue.
Title: Dynamic changes in connexin expression following engraftment of neural stem cells to striatal tissue.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH129172 (e-PCR)
- UniSTS:212480

RH137073 (e-PCR)
- UniSTS:219161

RH133850 (e-PCR)
- UniSTS:217133

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables gap junction channel activity	TAS Traceable Author Statement more info	PubMed
enables gap junction channel activity involved in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
enables identical protein 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 cell-cell signaling	ISO Inferred from Sequence Orthology more info
involved_in cell-cell signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to dexamethasone stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to glucagon stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to oxidative stress	IEP Inferred from Expression Pattern more info	PubMed
involved_in decidualization	IEP Inferred from Expression Pattern more info	PubMed
involved_in epididymis development	IEP Inferred from Expression Pattern more info	PubMed
involved_in female pregnancy	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within gap junction assembly	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 gap junction-mediated intercellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in inner ear development	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to estradiol	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to human chorionic gonadotropin	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to ischemia	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to lipopolysaccharide	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to progesterone	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to retinoic acid	IEP Inferred from Expression Pattern more info	PubMed
involved_in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in astrocyte projection	IDA Inferred from Direct Assay more info	PubMed
located_in cell body	IDA Inferred from Direct Assay more info	PubMed
located_in 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	ISO Inferred from Sequence Orthology more info
part_of connexin complex	ISS Inferred from Sequence or Structural Similarity 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
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: gap junction beta-2 protein

Names: connexin 26; connexin e; gap junction channel protein connexin 26; gap junction membrane channel protein beta 2

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_001004099.2 → NP_001004099.1 gap junction beta-2 protein

See identical proteins and their annotated locations for NP_001004099.1

Status: VALIDATED

Source sequence(s)

BC078952, JAXUCZ010000015

UniProtKB/Swiss-Prot

P21994

UniProtKB/TrEMBL

A0A654IDU4, A6KHA9

Related

ENSRNOP00000011711.3, ENSRNOT00000011711.5

Conserved Domains (1) summary

pfam00029
Location:2 → 215

Connexin

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086033.1 Reference GRCr8

Range

35375977..35393817 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017599765.3 → XP_017455254.1 gap junction beta-2 protein isoform X1

UniProtKB/Swiss-Prot

P21994

UniProtKB/TrEMBL

A0A654IDU4, A6KHA9

Related

ENSRNOP00000082358.1

Conserved Domains (1) summary

pfam00029
Location:2 → 215

Connexin
XM_039093557.2 → XP_038949485.1 gap junction beta-2 protein isoform X1

UniProtKB/Swiss-Prot

P21994

UniProtKB/TrEMBL

A0A654IDU4, A6KHA9

Conserved Domains (1) summary

pfam00029
Location:2 → 215

Connexin