GNB4
entrez
59345
canonical
uniprot
Q9HAV0
canonical
ensembl
ENSG00000114450
resolver
ensp
ENSP00000232564
resolver
ensp
ENSP00000501882
resolver
ensp
ENSP00000502628
resolver
ensp
ENSP00000526311
resolver
ensp
ENSP00000628782
resolver
ensp
ENSP00000628783
resolver
ensp
ENSP00000628784
resolver
ensp
ENSP00000628785
resolver
enst
ENST00000232564
resolver
enst
ENST00000674862
resolver
enst
ENST00000676128
resolver
enst
ENST00000856252
resolver
enst
ENST00000958723
resolver
enst
ENST00000958724
resolver
enst
ENST00000958725
resolver
enst
ENST00000958726
resolver
genesymbol
GNB4
resolver
hgnc
HGNC:20731
resolver
uniprot
B3KMH5
resolver
uniprot
D3DNR8
resolver
uniprot_entry
GBB4_HUMAN
resolver
uniprot_sec
B3KMH5
resolver
uniprot_sec
D3DNR8
resolver
amino_acid_sequence
MSELEQLRQEAEQLRNQIQDARKACNDATLVQITSNMDSVGRIQMRTRRTLRGHLAKIYAMHWGYDSRLLVSASQDGKLIIWDSYTTNKMHAIPLRSSWVMTCAYAPSGNYVACGGLDNICSIYNLKTREGNVRVSRELPGHTGYLSCCRFLDDSQIVTSSGDTTCALWDIETAQQTTTFTGHSGDVMSLSLSPDMRTFVSGACDASSKLWDIRDGMCRQSFTGHVSDINAVSFFPNGYAFATGSDDATCRLFDLRADQELLLYSHDNIICGITSVAFSKSGRLLLAGYDDFNCNVWDTLKGDRAGVLAGHDNRVSCLGVTDDGMAVATGSWDSFLRIWN
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, dominant intermediate F (CMTDIF) [MIM:615185]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range. {ECO:0000269|PubMed:23434117}. 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
37567
uniprot
proteins
protein_family
WD repeat G protein beta family
uniprot
proteins
pubmed
11842130
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23434117
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
340
uniprot
proteins