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GJB2

GENERAL INFORMATION

Gene name

 GJB2

Gene description

 Gap junction protein, beta 2, 26kDa

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (esophagus)
GTEx:Tissue enhanced (esophagus, vagina)
FANTOM5:Group enriched (cervix, uterine, esophagus, tonsil)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several different tissue types.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
CAB013093
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Esophagus

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (esophagus)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (esophagus, vagina)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (cervix, uterine, esophagus, tonsil)

GENE INFORMATION

Gene name

 GJB2 (HGNC Symbol)

Synonyms

 CX26, DFNA3, DFNB1, NSRD1

Description

 Gap junction protein, beta 2, 26kDa (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]

Chromosome

 13

Cytoband

 q12.11

Chromosome location (bp)

 20187470 - 20192898

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000165474 (version 83.38)

Entrez gene

 2706

UniProt

 P29033 (UniProt - Evidence at protein level)

neXtProt

 NX_P29033

Antibodypedia

 GJB2 antibodies

PROTEIN BROWSER
GJB2-001
GJB2-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GJB2-001
ENSP00000372299
ENST00000382848
P29033 [Direct mapping]
Gap junction beta-2 protein
H9U1J4 [Target identity:100%; Query identity:100%]
Gap junction protein
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Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0005793 [endoplasmic reticulum-Golgi intermediate compartment]
GO:0005886 [plasma membrane]
GO:0005922 [connexon complex]
GO:0006810 [transport]
GO:0007154 [cell communication]
GO:0007605 [sensory perception of sound]
GO:0016021 [integral component of membrane]
GO:0016264 [gap junction assembly]
GO:0061024 [membrane organization]
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 226 aa
26.2 kDa 		No 4
GJB2-002
ENSP00000372295
ENST00000382844
P29033 [Direct mapping]
Gap junction beta-2 protein
H9U1J4 [Target identity:100%; Query identity:100%]
Gap junction protein
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Disease related genes
Potential drug targets
Show all
GO:0005243 [gap junction channel activity]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005793 [endoplasmic reticulum-Golgi intermediate compartment]
GO:0005886 [plasma membrane]
GO:0005921 [gap junction]
GO:0005922 [connexon complex]
GO:0006810 [transport]
GO:0007154 [cell communication]
GO:0007267 [cell-cell signaling]
GO:0007565 [female pregnancy]
GO:0007605 [sensory perception of sound]
GO:0016021 [integral component of membrane]
GO:0016264 [gap junction assembly]
GO:0016328 [lateral plasma membrane]
GO:0030054 [cell junction]
GO:0030539 [male genitalia development]
GO:0032355 [response to estradiol]
GO:0032570 [response to progesterone]
GO:0034599 [cellular response to oxidative stress]
GO:0044752 [response to human chorionic gonadotropin]
GO:0046697 [decidualization]
GO:0055085 [transmembrane transport]
GO:0061024 [membrane organization]
Show all
 226 aa
26.2 kDa 		No 4

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.