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GJB6
  • TISSUE

  • premium

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  • PATHOLOGY

TISSUE ATLAS

GENE/PROTEIN

Dictionary


Tissue proteome

GENERAL INFORMATION

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
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Group enriched (bone marrow, cerebral cortex, esophagus, skin)
GTEx:Tissue enhanced (esophagus, vagina)
FANTOM5:Group enriched (brain, caudate, cerebellum, cervix, uterine, esophagus, hippocampus, tonsil)

Protein evidence

Evidence at protein level

DATA RELIABILITY

Reliability score

Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
N/A
Cerebral cortex
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Thyroid gland
N/A
Parathyroid gland
N/A
Adrenal gland
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Bone marrow
N/A
Lymph node
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Heart muscle
N/A
Skeletal muscle
N/A
Smooth muscle
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Gallbladder
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Salivary gland
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Small intestine
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
Prostate
N/A
Seminal vesicle
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
Endometrium
N/A
Fallopian tube
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Adipose tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW

Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (bone marrow, cerebral cortex, esophagus, skin)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (esophagus, vagina)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (brain, caudate, cerebellum, cervix, uterine, esophagus, hippocampus, tonsil)

GENE INFORMATION

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 83.38)

Entrez gene

10804

UniProt

O95452 (UniProt - Evidence at protein level)

neXtProt

NX_O95452

Antibodypedia

GJB6 antibodies

PROTEIN BROWSER

GJB6-001
GJB6-002
GJB6-003
GJB6-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GJB6-001
ENSP00000241124
ENST00000241124
O95452 [Direct mapping]
Gap junction beta-6 protein
A0A024RDS4 [Target identity:100%; Query identity:100%]
Gap junction protein
Show all
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
Protein evidence (Kim et al 2014)
Show all
GO:0005922 [connexon complex]
GO:0007154 [cell communication]
GO:0016021 [integral component of membrane]
Show all
261 aa
30.4 kDa
No 4
GJB6-002
ENSP00000382938
ENST00000400065
O95452 [Direct mapping]
Gap junction beta-6 protein
A0A024RDS4 [Target identity:100%; Query identity:100%]
Gap junction protein
Show all
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
Protein evidence (Kim et al 2014)
Show all
GO:0005922 [connexon complex]
GO:0007154 [cell communication]
GO:0016021 [integral component of membrane]
Show all
261 aa
30.4 kDa
No 4
GJB6-003
ENSP00000382939
ENST00000400066
O95452 [Direct mapping]
Gap junction beta-6 protein
A0A024RDS4 [Target identity:100%; Query identity:100%]
Gap junction protein
Show all
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
Protein evidence (Kim et al 2014)
Show all
GO:0005922 [connexon complex]
GO:0007154 [cell communication]
GO:0016021 [integral component of membrane]
Show all
261 aa
30.4 kDa
No 4
GJB6-004
ENSP00000348521
ENST00000356192
O95452 [Direct mapping]
Gap junction beta-6 protein
A0A024RDS4 [Target identity:100%; Query identity:100%]
Gap junction protein
Show all
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
Protein evidence (Kim et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0005921 [gap junction]
GO:0005922 [connexon complex]
GO:0006915 [apoptotic process]
GO:0007154 [cell communication]
GO:0007568 [aging]
GO:0007605 [sensory perception of sound]
GO:0008285 [negative regulation of cell proliferation]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0032496 [response to lipopolysaccharide]
GO:0042471 [ear morphogenesis]
GO:0048839 [inner ear development]
GO:0051602 [response to electrical stimulus]
GO:0071333 [cellular response to glucose stimulus]
Show all
261 aa
30.4 kDa
No 4

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