GNB3
entrez
2784
canonical
uniprot
P16520
canonical
ensembl
ENSG00000111664
resolver
ensp
ENSP00000229264
resolver
ensp
ENSP00000414734
resolver
ensp
ENSP00000554080
resolver
enst
ENST00000435982
resolver
genesymbol
GNB3
resolver
hgnc
HGNC:4400
resolver
uniprot
E9PCP0
resolver
uniprot
F1T0G5
resolver
uniprot
Q96B71
resolver
uniprot
Q9BQC0
resolver
uniprot_entry
E9PCP0_HUMAN
resolver
uniprot_entry
F1T0G5_HUMAN
resolver
uniprot_entry
GBB3_HUMAN
resolver
uniprot_sec
Q96B71
resolver
uniprot_sec
Q9BQC0
resolver
amino_acid_sequence
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLIVWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTSSGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEAICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGILSGHDNRVSCLGVTADGMAVATGSWDSFLKIWN
uniprot
proteins
disease_involvement
DISEASE: Night blindness, congenital stationary, 1H (CSNB1H) [MIM:617024]: A form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision or in dim light, with good vision only on bright days. CSNB1H patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia. CSNB1H inheritance is autosomal recessive. {ECO:0000269|PubMed:27063057}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
uniprot
proteins
mass_dalton
37221
uniprot
proteins
protein_family
WD repeat G protein beta family
uniprot
proteins
pubmed
10904009
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19255495
uniprot
proteins
pubmed
2107550
uniprot
proteins
pubmed
27063057
uniprot
proteins
pubmed
8723724
uniprot
proteins
pubmed
9074930
uniprot
proteins
sequence_length
340
uniprot
proteins