GJA3
entrez
2700
canonical
uniprot
Q9Y6H8
canonical
ensembl
ENSG00000121743
resolver
ensp
ENSP00000241125
resolver
ensp
ENSP00000560288
resolver
ensp
ENSP00000560289
resolver
ensp
ENSP00000560290
resolver
ensp
ENSP00000623397
resolver
ensp
ENSP00000623398
resolver
enst
ENST00000241125
resolver
enst
ENST00000890229
resolver
enst
ENST00000890230
resolver
enst
ENST00000890231
resolver
enst
ENST00000953338
resolver
enst
ENST00000953339
resolver
genesymbol
GJA3
resolver
hgnc
HGNC:4277
resolver
uniprot
Q0VAB7
resolver
uniprot
Q9H537
resolver
uniprot_entry
CXA3_HUMAN
resolver
uniprot_sec
Q0VAB7
resolver
uniprot_sec
Q9H537
resolver
amino_acid_sequence
MGDWSFLGRLLENAQEHSTVIGKVWLTVLFIFRILVLGAAAEDVWGDEQSDFTCNTQQPGCENVCYDRAFPISHIRFWALQIIFVSTPTLIYLGHVLHIVRMEEKKKEREEEEQLKRESPSPKEPPQDNPSSRDDRGRVRMAGALLRTYVFNIIFKTLFEVGFIAGQYFLYGFELKPLYRCDRWPCPNTVDCFISRPTEKTIFIIFMLAVACASLLLNMLEIYHLGWKKLKQGVTSRLGPDASEAPLGTADPPPLPPSSRPPAVAIGFPPYYAHTAAPLGQARAVGYPGAPPPAADFKLLALTEARGKGQSAKLYNGHHHLLMTEQNWANQAAERQPPALKAYPAASTPAAPSPVGSSSPPLAHEAEAGAAPLLLDGSGSSLEGSALAGTPEEEEQAVTTAAQMHQPPLPLGDPGRASKASRASSGRARPEDLAI
uniprot
proteins
disease_involvement
DISEASE: Cataract 14, multiple types (CTRCT14) [MIM:601885]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO:0000269|PubMed:10205266, ECO:0000269|PubMed:10746562, ECO:0000269|PubMed:14627959, ECO:0000269|PubMed:15208569, ECO:0000269|PubMed:15286166, ECO:0000269|PubMed:15448617, ECO:0000269|PubMed:16234473, ECO:0000269|PubMed:16254549, ECO:0000269|PubMed:16885921, ECO:0000269|PubMed:16971895, ECO:0000269|PubMed:17615540, ECO:0000269|PubMed:17893674, ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:20431721, ECO:0000269|PubMed:21552498, ECO:0000269|PubMed:21647269, ECO:0000269|PubMed:21681855, ECO:0000269|PubMed:21866213, ECO:0000269|PubMed:21897748, ECO:0000269|PubMed:22312188, ECO:0000269|PubMed:24772942, ECO:0000269|PubMed:25635993, ECO:0000269|PubMed:26683566, ECO:0000269|PubMed:28839118, ECO:0000269|PubMed:30044662}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of lens fiber gap junctions (PubMed:30044662). Gap junctions are dodecameric channels that connect the cytoplasm of adjoining cells (By similarity). 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 (PubMed:30044662). {ECO:0000250|UniProtKB:Q9TU17, ECO:0000269|PubMed:30044662}.
uniprot
proteins
mass_dalton
47410
uniprot
proteins
mutagenesis
MUTAGEN 76; /note="R->E,K: Abolishes formation of gap junctions. No significant effect on formation of functional hemichannels."; /evidence="ECO:0000269|PubMed:30044662
uniprot
proteins
protein_family
Alpha-type (group II) subfamily
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
pubmed
10205266
uniprot
proteins
pubmed
10746562
uniprot
proteins
pubmed
14627959
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15208569
uniprot
proteins
pubmed
15286166
uniprot
proteins
pubmed
15448617
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16234473
uniprot
proteins
pubmed
16254549
uniprot
proteins
pubmed
16885921
uniprot
proteins
pubmed
16971895
uniprot
proteins
pubmed
17615540
uniprot
proteins
pubmed
17893674
uniprot
proteins
pubmed
19182255
uniprot
proteins
pubmed
20431721
uniprot
proteins
pubmed
21552498
uniprot
proteins
pubmed
21647269
uniprot
proteins
pubmed
21681855
uniprot
proteins
pubmed
21866213
uniprot
proteins
pubmed
21897748
uniprot
proteins
pubmed
22312188
uniprot
proteins
pubmed
24772942
uniprot
proteins
pubmed
25635993
uniprot
proteins
pubmed
26683566
uniprot
proteins
pubmed
28839118
uniprot
proteins
pubmed
30044662
uniprot
proteins
sequence_length
435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:30044662}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9TU17}. Cell junction, gap junction {ECO:0000269|PubMed:30044662}.
uniprot
proteins
transmembrane_region
TRANSMEM 20..40; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9TU17"; TRANSMEM 72..92; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9TU17"; TRANSMEM 153..173; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9TU17"; TRANSMEM 202..222; /note="Helical"; /evidence="ECO:0000250|UniProtKB:Q9TU17
uniprot
proteins