Cell atlas - GJB6 - The Human Protein Atlas

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GJB6

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cell Junctions

Human cell
	Plasma Membrane

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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
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the cell junctions.
RNA cell category	Cell line enriched (RT4)
Protein evidence	Evidence at protein level
Main location	Localized to the Cell Junctions (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA014846
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (RT4) 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 cell junctions.

Main location

Cell Junctions (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA014846	RT4	Cell Junctions

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

Contact

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The Project

The Human Protein Atlas

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