PHKG2
entrez
5261
canonical
uniprot
P15735
canonical
ensembl
ENSG00000156873
resolver
ensp
ENSP00000388571
resolver
ensp
ENSP00000455607
resolver
genesymbol
PHKG2
resolver
hgnc
HGNC:8931
resolver
uniprot
A8K0C7
resolver
uniprot
B4DEB7
resolver
uniprot
E9PEU3
resolver
uniprot
P11800
resolver
uniprot_entry
PHKG2_HUMAN
resolver
uniprot_sec
A8K0C7
resolver
uniprot_sec
B4DEB7
resolver
uniprot_sec
E9PEU3
resolver
uniprot_sec
P11800
resolver
amino_acid_sequence
MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAERLSPEQLEEVREATRRETHILRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLTEKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENILLDDNMQIRLSDFGFSCHLEPGEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQILMLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPWNLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGHWVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDEAVLVLG
uniprot
proteins
disease_involvement
DISEASE: Glycogen storage disease 9C (GSD9C) [MIM:613027]: A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. {ECO:0000269|PubMed:12930917, ECO:0000269|PubMed:35549678, ECO:0000269|PubMed:8896567, ECO:0000269|PubMed:9245685}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.19
uniprot
proteins
function
FUNCTION: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the testis. In vitro, phosphorylates PYGM (PubMed:35549678). {ECO:0000250|UniProtKB:P31325, ECO:0000269|PubMed:10487978, ECO:0000269|PubMed:35549678}.
uniprot
proteins
mass_dalton
46442
uniprot
proteins
protein_family
CAMK Ser/Thr protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10487978
uniprot
proteins
pubmed
12930917
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2915644
uniprot
proteins
pubmed
2948189
uniprot
proteins
pubmed
35549678
uniprot
proteins
pubmed
8896567
uniprot
proteins
pubmed
9245685
uniprot
proteins
pubmed
9384616
uniprot
proteins
sequence_length
406
uniprot
proteins