Expression of GJB2 in cancer - Summary - The Human Protein Atlas

CANCER ATLAS

Gene description

Gap junction protein, beta 2, 26kDa

Protein class

Disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

CAB013093

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