Proteins/UNIPROT:P29033

GJB2

ProteinUNIPROT:P29033

Structural component of gap junctions. Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells. They are formed by the docking of two hexameric hemichannels, one from each cell membrane. Small molecules and ions diffuse from one cell to a neighboring cell via the central pore..

Function from UniProtKB (P29033), read 2026-09-23. CC BY 4.0.

Curated compounds routed: 0

What the reference databases state

GenCC submitters' classifications

12 rows

autosomal dominant keratitis-ichthyosis-hearing loss syndrome has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0007850Inferred only
autosomal dominant nonsyndromic hearing loss has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0019587Inferred only
autosomal dominant nonsyndromic hearing loss 3A has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0011103Inferred only
autosomal recessive nonsyndromic hearing loss 1A has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0009076Inferred only
Bart-Pumphrey syndrome has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0007866Inferred only
hearing loss disorder has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0005365Inferred only
hearing loss, autosomal recessive has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0019588Inferred only
ichthyosis, hystrix-like, with hearing loss has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0011245Inferred only
keratoderma hereditarium mutilans has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0007422Inferred only
KID syndrome has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0018781Inferred only
nonsyndromic genetic hearing loss has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0019497Inferred only
palmoplantar keratoderma-deafness syndrome has a germline basis in GJB2DiseaseGenCC HGNC:4284|MONDO:0007852Inferred only

Statements

18 statements

18 statements · 3 reference databases · Subject: GJB2 · Sources: Hetionet, Reactome, WikiPathways

Order

CAV1 interacts with GJB2ProteinHetionet hetionet:interacts:2706-857Inferred only
CD14 interacts with GJB2ProteinHetionet hetionet:interacts:2706-929Inferred only
GJB2 interacts with CNSTProteinHetionet hetionet:interacts:163882-2706Inferred only
GJB2 interacts with FBXO2ProteinHetionet hetionet:interacts:26232-2706Inferred only
GJB1 interacts with GJB2ProteinHetionet hetionet:interacts:2705-2706Inferred only
GJB2 interacts with GJB6ProteinHetionet hetionet:interacts:10804-2706Inferred only
GJB2 interacts with SKP1ProteinHetionet hetionet:interacts:2706-6500Inferred only
GJB2 interacts with UBCProteinHetionet hetionet:interacts:2706-7316Inferred only
GJB2 participates in Calcium regulation in cardiac cellsPathwayWikiPathways WP536Inferred only
GJB2 participates in Gap junction assemblyPathwayReactome R-HSA-190861Inferred only
GJB2 participates in Gap junction traffickingPathwayReactome R-HSA-190828Inferred only
GJB2 participates in Gap junction trafficking and regulationPathwayReactome R-HSA-157858Inferred only

Show the remaining 6

GJB2 participates in Mammary gland development pregnancy and lactation stage 3 of 4PathwayWikiPathways WP2817Inferred only
GJB2 participates in Membrane TraffickingPathwayReactome R-HSA-199991Inferred only
GJB2 participates in Oligomerization of connexins into connexonsPathwayReactome R-HSA-190704Inferred only
GJB2 participates in Transport of connexins along the secretory pathwayPathwayReactome R-HSA-190827Inferred only
GJB2 participates in Transport of connexons to the plasma membranePathwayReactome R-HSA-190872Inferred only
GJB2 participates in Vesicle-mediated transportPathwayReactome R-HSA-5653656Inferred only

Other names

2 names

Resolves to: GJB2

Also called: Connexin-26Cx26

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