| Type | Description |
|---|---|
| Definition | phosphorylase kinase catalytic subunit gamma 2 |
| Date | Results | Publications |
|---|---|---|
| 2015-02-14 10:47:00 | These cases add to the current knowledge of clinical variability in patients with PHKG2 mutations. Long term studies, involving follow-up of these patients into adulthood, are needed | 24389071 |
| 2014-12-20 13:22:00 | Patients with PHKG2 mutations have a severe hepatic phenotype within the heterogeneous GSD IX disorder. A defect in PHKG2 should be considered in patients with suspected glycogenosis associated with significant liver fibrosis and cirrhosis. | 24326380 |
| 2010-01-21 00:00:00 | PHKG2 mutations are associated with Glycogen storage disease type IX | 17689125 |
| Type | IDs |
|---|---|
| Synonymous | GSD9C |
| Gene |
UniProtKB-ID:
PHKG2_HUMAN
UniprotKB:
P15735
UniParc:
UPI00017A6D1E,
UPI000012DF54
EMBL:
AC106886,
Y11950,
M31606,
Y11951,
AK293551,
M14503,
AK289492,
BC002541
Ensembl:
ENSG00000156873
KO:
hsa:5261
|
| Nucleutide sequences |
EMBL-CDS:
BAF82181.1,
CAA72694.1,
AAH02541.1,
AAA36518.1,
BAG57028.1,
AAA36442.1
Ensembl_TRS:
ENST00000424889,
ENST00000563588
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000388571,
ENSP00000455607
RefSeq:
NP_001165903.1,
NP_000285.1
|
| Others |
UniRef100:
UniRef100_P15735
UniRef90:
UniRef90_P15735
UniRef50:
UniRef50_P15735
UniGene:
Hs.65735
CCDS:
CCDS10690.1,
CCDS54002.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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