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Metazoan complexes |
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H.sapiens
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Details of PHKB gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PHKB | --- | Q93100 | KPBB_HUMAN | 5257 | ENSG00000102893 | Phosphorylase b kinase regulatory subunit beta | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Glycogen storage disease 9B (GSD9B) [MIM:261750]: A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. Note=The disease is caused by mutations affecting the gene represented in this entry. | 261750 | ||||||||
Phenotypes
Abdominal symptom, Abnormality of body height, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the liver, Abnormality of the musculature, Abnormal muscle tone, All, Autosomal recessive inheritance, Diarrhea, Growth abnormality, Growth delay, Hepatomegaly, Mode of inheritance, Muscular hypotonia, Phenotypic abnormality, Short stature, Visceromegaly.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Phkb | FBgn0031995 | Y67D8A.1 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PHKB | CORO1B | 0.461213854 | PHKB | CORO1B | cpx344 | no | yes | no | Known |
| PHKB | CORO1C | 0.414312953 | PHKB | CORO1C | cpx344 | no | yes | no | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|