GJA8
entrez
2703
canonical
uniprot
P48165
canonical
ensembl
ENSG00000121634
resolver
ensp
ENSP00000358238
resolver
enst
ENST00000369235
resolver
genesymbol
GJA8
resolver
hgnc
HGNC:4281
resolver
uniprot
A7L5M5
resolver
uniprot
Q5VVN9
resolver
uniprot
Q9NP25
resolver
uniprot
X5D7G1
resolver
uniprot_entry
CXA8_HUMAN
resolver
uniprot_entry
X5D7G1_HUMAN
resolver
uniprot_sec
A7L5M5
resolver
uniprot_sec
Q5VVN9
resolver
uniprot_sec
Q9NP25
resolver
amino_acid_sequence
MGDWSFLGNILEEVNEHSTVIGRVWLTVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYDEAFPISHIRLWVLQIIFVSTPSLMYVGHAVHYVRMEEKRKSREAEELGQQAGTNGGPDQGSVKKSSGSKGTKKFRLEGTLLRTYICHIIFKTLFEVGFIVGHYFLYGFRILPLYRCSRWPCPNVVDCFVSRPTEKTIFILFMLSVASVSLFLNVMELGHLGLKGIRSALKRPVEQPLGEIPEKSLHSIAVSSIQKAKGYQLLEEEKIVSHYFPLTEVGMVETSPLPAKPFNQFEEKISTGPLGDLSRGYQETLPSYAQVGAQEVEGEGPPAEEGAEPEVGEKKEEAERLTTEEQEKVAVPEGEKVETPGVDKEGEKEEPQSEKVSKQGLPAEKTPSLCPELTTDDARPLSRLSKASSRARSDDLTV
uniprot
proteins
disease_involvement
DISEASE: Cataract 1, multiple types (CTRCT1) [MIM:116200]: 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. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. 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. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269|PubMed:10480374, ECO:0000269|PubMed:11846744, ECO:0000269|PubMed:14627691, ECO:0000269|PubMed:16234473, ECO:0000269|PubMed:16397066, ECO:0000269|PubMed:16604058, ECO:0000269|PubMed:18006672, ECO:0000269|PubMed:18587493, ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:21174522, ECO:0000269|PubMed:21686328, ECO:0000269|PubMed:21921990, ECO:0000269|PubMed:23508780, ECO:0000269|PubMed:26004348, ECO:0000269|PubMed:28690483, ECO:0000269|PubMed:28839118, ECO:0000269|PubMed:35531093, ECO:0000269|PubMed:9497259, ECO:0000269|Ref.4}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Structural component of eye lens gap junctions (PubMed:18006672, PubMed:19756179). 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 (PubMed:18006672, PubMed:19756179). {ECO:0000250|UniProtKB:P55917, ECO:0000269|PubMed:16397066, ECO:0000269|PubMed:18006672, ECO:0000269|PubMed:19756179, ECO:0000269|PubMed:35531093}.
uniprot
proteins
mass_dalton
48229
uniprot
proteins
protein_family
Alpha-type (group II) subfamily
uniprot
proteins
protein_family
Connexin family
uniprot
proteins
pubmed
10480374
uniprot
proteins
pubmed
11846744
uniprot
proteins
pubmed
14627691
uniprot
proteins
pubmed
16234473
uniprot
proteins
pubmed
16397066
uniprot
proteins
pubmed
16604058
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18006672
uniprot
proteins
pubmed
18587493
uniprot
proteins
pubmed
19182255
uniprot
proteins
pubmed
19756179
uniprot
proteins
pubmed
21174522
uniprot
proteins
pubmed
21686328
uniprot
proteins
pubmed
21921990
uniprot
proteins
pubmed
23508780
uniprot
proteins
pubmed
26004348
uniprot
proteins
pubmed
28690483
uniprot
proteins
pubmed
28839118
uniprot
proteins
pubmed
35531093
uniprot
proteins
pubmed
7796604
uniprot
proteins
pubmed
8549164
uniprot
proteins
pubmed
9497259
uniprot
proteins
sequence_length
433
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16397066, ECO:0000269|PubMed:18006672, ECO:0000269|PubMed:19756179, ECO:0000269|PubMed:26004348}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P55917}. Cell junction, gap junction {ECO:0000269|PubMed:18006672, ECO:0000269|PubMed:19756179}.
uniprot
proteins
transmembrane_region
TRANSMEM 22..42; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P55917"; TRANSMEM 72..92; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P55917"; TRANSMEM 155..175; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P55917"; TRANSMEM 204..224; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P55917
uniprot
proteins