GJB1

GENERAL INFORMATION

? »

Gene name

GJB1

Gene description

Gap junction protein, beta 1, 32kDa

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enhanced (liver)
GTEx:Tissue enhanced (liver)

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic and membranous expression.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA010663 , CAB012994
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enhanced (liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (liver)

Organ

Expression



GENE INFORMATION

? »

Gene name

GJB1 (HGNC Symbol)

Synonyms

CMTX, CMTX1, CX32

Description

Gap junction protein, beta 1, 32kDa (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions and small molecules between cells. 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 cause X-linked Charcot-Marie-Tooth disease, an inherited peripheral neuropathy. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2008]

Chromosome

X

Cytoband

q13.1

Chromosome location (bp)

71215194 - 71225516

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000169562 (version 78.38)

Entrez gene

2705

UniProt

P08034 (UniProt - Evidence at protein level)

neXtProt

NX_P08034

Antibodypedia

GJB1 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000361726
 
ENST00000374022
 
ENST00000374029
 
ENST00000447581
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJB1-001 ENSP00000363134
ENST00000374022
P08034
Show all »
Show » Show » 283 32 No 4
GJB1-002 ENSP00000354900
ENST00000361726
P08034
Show all »
Show » Show » 283 32 No 4
GJB1-003 ENSP00000363141
ENST00000374029
P08034
Show all »
Show » Show » 283 32 No 4
GJB1-004 ENSP00000407223
ENST00000447581
C9JWU8
Show all »
Show » Show » 84 9.5 No 1