GNB2
entrez
2783
canonical
uniprot
P62879
canonical
ensembl
ENSG00000172354
resolver
ensp
ENSP00000305260
resolver
genesymbol
GNB2
resolver
hgnc
HGNC:4398
resolver
uniprot
B3KPU1
resolver
uniprot
P11016
resolver
uniprot
P54312
resolver
uniprot
Q6FHM2
resolver
uniprot_entry
GBB2_HUMAN
resolver
uniprot_entry
Q6FHM2_HUMAN
resolver
uniprot_sec
B3KPU1
resolver
uniprot_sec
P11016
resolver
uniprot_sec
P54312
resolver
amino_acid_sequence
MSELEQLRQEAEQLRNQIRDARKACGDSTLTQITAGLDPVGRIQMRTRRTLRGHLAKIYAMHWGTDSRLLVSASQDGKLIIWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNICSIYSLKTREGNVRVSRELPGHTGYLSCCRFLDDNQIITSSGDTTCALWDIETGQQTVGFAGHSGDVMSLSLAPDGRTFVSGACDASIKLWDVRDSMCRQTFIGHESDINAVAFFPNGYAFTTGSDDATCRLFDLRADQELLMYSHDNIICGITSVAFSRSGRLLLAGYDDFNCNIWDAMKGDRAGVLAGHDNRVSCLGVTDDGMAVATGSWDSFLKIWN
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) [MIM:619503]: An autosomal dominant disorder characterized by global developmental delay, hypotonia, and variably impaired intellectual development, often with speech delay and delayed walking. Most patients have dysmorphic facial features. Clinical features are highly variable and may include congenital cardiac defects, non-specific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. {ECO:0000269|PubMed:31698099, ECO:0000269|PubMed:33971351, ECO:0000269|PubMed:34183358}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Sick sinus syndrome 4 (SSS4) [MIM:619464]: The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS4 is characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Some affected individuals are asymptomatic. SSS4 inheritance is autosomal dominant. {ECO:0000269|PubMed:28219978}. 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
37331
uniprot
proteins
protein_family
WD repeat G protein beta family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14512443
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16498633
uniprot
proteins
pubmed
19255495
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26900580
uniprot
proteins
pubmed
28219978
uniprot
proteins
pubmed
3108879
uniprot
proteins
pubmed
3114742
uniprot
proteins
pubmed
31698099
uniprot
proteins
pubmed
33971351
uniprot
proteins
pubmed
34183358
uniprot
proteins
pubmed
9799793
uniprot
proteins
sequence_length
340
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:16498633}. Cell membrane {ECO:0000269|PubMed:28219978}.
uniprot
proteins