Cell atlas - GJB2 - The Human Protein Atlas

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GJB2

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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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
Summary	Localized to the mitochondria.
RNA cell category	Cell line enhanced (RT4, CAPAN-2, hTCEpi)
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA014362
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (RT4, CAPAN-2, hTCEpi) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the mitochondria.

Main location

Mitochondria (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA014362	HaCaT	Mitochondria
	HPA014362	RT4	Mitochondria
	HPA014362	U-2 OS	No staining

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 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 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] Show all	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

contact@proteinatlas.org

The Project

The Human Protein Atlas

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