GNAT2
entrez
2780
canonical
uniprot
P19087
canonical
ensembl
ENSG00000134183
resolver
ensp
ENSP00000251337
resolver
ensp
ENSP00000505083
resolver
ensp
ENSP00000542521
resolver
ensp
ENSP00000542522
resolver
ensp
ENSP00000542523
resolver
enst
ENST00000351050
resolver
enst
ENST00000679935
resolver
enst
ENST00000872462
resolver
enst
ENST00000872463
resolver
enst
ENST00000872464
resolver
genesymbol
GNAT2
resolver
genesymbol_syn
GNATC
resolver
hgnc
HGNC:4394
resolver
uniprot
A0A024R097
resolver
uniprot
Q5T697
resolver
uniprot_entry
GNAT2_HUMAN
resolver
uniprot_entry
Q5T697_HUMAN
resolver
uniprot_sec
A0A024R097
resolver
amino_acid_sequence
MGSGASAEDKELAKRSKELEKKLQEDADKEAKTVKLLLLGAGESGKSTIVKQMKIIHQDGYSPEECLEFKAIIYGNVLQSILAIIRAMTTLGIDYAEPSCADDGRQLNNLADSIEEGTMPPELVEVIRRLWKDGGVQACFERAAEYQLNDSASYYLNQLERITDPEYLPSEQDVLRSRVKTTGIIETKFSVKDLNFRMFDVGGQRSERKKWIHCFEGVTCIIFCAALSAYDMVLVEDDEVNRMHESLHLFNSICNHKFFAATSIVLFLNKKDLFEEKIKKVHLSICFPEYDGNNSYDDAGNYIKSQFLDLNMRKDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKDCGLF
uniprot
proteins
disease_involvement
DISEASE: Achromatopsia 4 (ACHM4) [MIM:613856]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO:0000269|PubMed:12077706}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.-
uniprot
proteins
function
FUNCTION: Alpha subunit of the heterotrimeric guanine nucleotide-binding protein (G protein) that transduces signals from the G protein-coupled cone photoreceptors (blue, green and red cones) (PubMed:12077706, PubMed:2534964). Functions as a GTPase, cycling between an active GTP-bound state and an inactive GDP-bound state. Upon photoactivation, cone photoreceptors promote GDP release and GTP binding (By similarity). In its active state, GNAT2 stimulates downstream effectors, including the cone cGMP-phosphodiesterase (PDE6) complex, to mediate the phototransduction cascade (By similarity). Activation of the PDE6 complex occurs through binding and repositioning of the inhibitory PDE6 gamma subunits (PDE6H), thereby promoting catalytic activity (By similarity). {ECO:0000250|UniProtKB:P04695, ECO:0000269|PubMed:12077706, ECO:0000269|PubMed:2534964}.
uniprot
proteins
mass_dalton
40176
uniprot
proteins
protein_family
G(i/o/t/z) subfamily
uniprot
proteins
protein_family
G-alpha family
uniprot
proteins
pubmed
12077706
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15712225
uniprot
proteins
pubmed
1936270
uniprot
proteins
pubmed
2534964
uniprot
proteins
pubmed
8406495
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:2534964}. Photoreceptor inner segment {ECO:0000269|PubMed:2534964}.
uniprot
proteins