GJB6

Protein identityUniProt · HPA

UniProt accession

O95452

Gene

GJB6

Ensembl

ENSG00000121742

Chromosome

13

Canonical length

261 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Cell Junctions

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

261 residues, UniProt reviewed canonical sequence.

>O95452|GJB6
     1  MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
    61  KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
   121  IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
   181  FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
   241  QNEMNELISD SGQNAITGFP S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJB6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

4

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

212 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GJB6.

Disease | AllUniProt

Conditions GJB6 is implicated in, by any mechanism.

• Ectodermal dysplasia 2, Clouston type (ECTD2) MIM:129500
• Deafness, autosomal recessive, 1B (DFNB1B) MIM:612645
• Deafness, autosomal dominant, 3B (DFNA3B) MIM:612643

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 232 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hidrotic ectodermal dysplasia syndrome
• Autosomal dominant nonsyndromic hearing loss 3B
• Autosomal recessive nonsyndromic hearing loss 1A
• Autosomal recessive nonsyndromic hearing loss 1B
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.74

gnomAD pLI

0

gnomAD missense Z

0.45

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell-cell signaling
• cellular response to glucose stimulus
• ear morphogenesis
• gap junction assembly
• gap junction-mediated intercellular transport
• inner ear development
• maintenance of blood-brain barrier
• negative regulation of cell population proliferation
• response to electrical stimulus
• response to lipopolysaccharide
• sensory perception of sound
• sinoatrial node development
• transmembrane transport

Molecular functions

• actin filament binding
• beta-tubulin binding
• gap junction channel activity
• gap junction channel activity involved in cell communication by electrical coupling
• microtubule binding

Cellular components

• actin filament
• apical plasma membrane
• cell junction
• connexin complex
• gap junction

Protein domainsUniProt · Pfam · InterPro

• Connexin
• Connexin, N-terminal
• Connexin, conserved site
• Connexin, cysteine-rich domain
• Connexin, N-terminal domain superfamily
• Connexin

KeywordsUniProt

• Cell junction
• Cell membrane
• Deafness
• Ectodermal dysplasia
• Gap junction
• Hearing
• Membrane
• Non-syndromic deafness
• Palmoplantar keratoderma
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of GJB6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CNST