GJB4
entrez
127534
canonical
uniprot
Q9NTQ9
canonical
ensembl
ENSG00000189433
resolver
ensp
ENSP00000345868
resolver
ensp
ENSP00000589412
resolver
enst
ENST00000339480
resolver
enst
ENST00000919353
resolver
genesymbol
GJB4
resolver
hgnc
HGNC:4286
resolver
uniprot
B3KQ82
resolver
uniprot_entry
CXB4_HUMAN
resolver
uniprot_sec
B3KQ82
resolver
amino_acid_sequence
MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVWDDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQLILVTCPSLLVVMHVAYREERERKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPRVVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFGPRHRRPRCRECLPDTCPPYVLSQGGHPEDGNSVLMKAGSAPVDAGGYP
uniprot
proteins
disease_involvement
DISEASE: Erythrokeratodermia variabilis et progressiva 2 (EKVP2) [MIM:617524]: A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. {ECO:0000269|PubMed:11017804, ECO:0000269|PubMed:12648223, ECO:0000269|PubMed:19291775}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of gap junctions (By similarity). 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 (By similarity). Small molecules and ions diffuse from one cell to a neighboring cell via the central pore (By similarity). {ECO:0000250|UniProtKB:P29033, ECO:0000250|UniProtKB:Q02738}.
uniprot
proteins
mass_dalton
30419
uniprot
proteins
protein_family
Beta-type (group I) subfamily
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
pubmed
11017804
uniprot
proteins
pubmed
11933201
uniprot
proteins
pubmed
12648223
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19291775
uniprot
proteins
sequence_length
266
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q02738}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q02738}. Cell junction, gap junction {ECO:0000250|UniProtKB:Q02738}. Note=Colocalizes with GJB2 at gap junction plaques in the cochlea. {ECO:0000250|UniProtKB:Q02738}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..40; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P29033"; TRANSMEM 74..94; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P29033"; TRANSMEM 131..151; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P29033"; TRANSMEM 185..205; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P29033
uniprot
proteins