GJB6

GENERAL INFORMATION

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Gene name

GJB6

Gene description

Gap junction protein, beta 6, 30kDa

Protein class

Disease related genes
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (bone marrow, esophagus)
GTEx:Tissue enhanced (esophagus, vagina)

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues displayed moderate cytoplasmic positivity. Myocytes in heart and skeletal muscle were strongly stained.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA014846
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RNA AND PROTEIN EXPRESSION SUMMARY

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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

Skeletal muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (bone marrow, esophagus)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (esophagus, vagina)

Organ

Expression



GENE INFORMATION

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Gene name

GJB6 (HGNC Symbol)

Synonyms

CX30, DFNA3, ED2, EDH, HED

Description

Gap junction protein, beta 6, 30kDa (HGNC Symbol)

Entrez gene summary

Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

Chromosome

13

Cytoband

q12.11

Chromosome location (bp)

20221971 - 20232395

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000121742 (version 78.38)

Entrez gene

10804

UniProt

O95452 (UniProt - Evidence at protein level)

neXtProt

NX_O95452

Antibodypedia

GJB6 antibodies


PROTEIN BROWSER

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ENST00000241124
 
ENST00000356192
 
ENST00000400065
 
ENST00000400066
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJB6-001 ENSP00000241124
ENST00000241124
O95452
Show all »
Show » Show » 261 30.4 No 4
GJB6-002 ENSP00000382938
ENST00000400065
O95452
Show all »
Show » Show » 261 30.4 No 4
GJB6-003 ENSP00000382939
ENST00000400066
O95452
Show all »
Show » Show » 261 30.4 No 4
GJB6-004 ENSP00000348521
ENST00000356192
O95452
Show all »
Show » Show » 261 30.4 No 4