GJB3

Protein identityUniProt · HPA

UniProt accession

O75712

Gene

GJB3

Ensembl

ENSG00000188910

Chromosome

1

Canonical length

270 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Vesicles,Cell Junctions

OverviewNCBI Gene

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

270 residues, UniProt reviewed canonical sequence.

>O75712|GJB3
     1  MDWKTLQALL SGVNKYSTAF GRIWLSVVFV FRVLVYVVAA ERVWGDEQKD FDCNTKQPGC
    61  TNVCYDNYFP ISNIRLWALQ LIFVTCPSLL VILHVAYREE RERRHRQKHG DQCAKLYDNA
   121  GKKHGGLWWT YLFSLIFKLI IEFLFLYLLH TLWHGFNMPR LVQCANVAPC PNIVDCYIAR
   181  PTEKKIFTYF MVGASAVCIV LTICELCYLI CHRVLRGLHK DKPRGGCSPS SSASRASTCR
   241  CHHKLVEAGE VDPDPGNNKL QASAPNLTPI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GJB3 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)

0.39

Highest tissue expression

139 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GJB3.

Disease | AllUniProt

Conditions GJB3 is implicated in, by any mechanism.

• Erythrokeratodermia variabilis et progressiva 1 (EKVP1) MIM:133200
• Deafness, autosomal dominant, 2B (DFNA2B) MIM:612644

Disease | GeneticClinVar

11 pathogenic / likely-pathogenic of 243 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Erythrokeratodermia variabilis et progressiva 1
• Autosomal dominant nonsyndromic hearing loss 2B
• Autosomal recessive nonsyndromic hearing loss 1A
• Ichthyosis and erythrokeratoderma

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)

1.32

gnomAD pLI

0

gnomAD missense Z

-0.53

DepMap mean gene effect

-0.18

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell-cell signaling
• placenta development

Molecular functions

• gap junction channel activity

Cellular components

• cell junction
• connexin complex
• cytoplasm
• gap junction

Protein domainsUniProt · Pfam · InterPro

• Connexin
• Connexin, N-terminal
• Connexin, conserved site
• Connexin, cysteine-rich domain
• Connexin, N-terminal domain superfamily
• Connexin
• Gap junction beta-3 protein (Cx31)

KeywordsUniProt

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

InteractionsUniProt · HPA

Protein binding partners of GJB3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CNST