|
Metazoan complexes |
Emili & Marcotte labs |
- Home
-
H.sapiens
-
M.musculus
-
D.melanogaster
-
C.elegans
-
S.purpuratus
-
Conserved map
-
PPI Projections
- Download
- Help
- Contact
Details of PHGDH gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PHGDH | PGDH3 | O43175 | SERA_HUMAN | 26227 | ENSG00000092621 | D-3-phosphoglycerate dehydrogenase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]: Characterized by congenital microcephaly, psychomotor retardation, and seizures. Note=The disease is caused by mutations affecting the gene represented in this entry. | 601815 | ||||||||
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal axial skeleton morphology, Abnormal external genitalia, Abnormal internal genitalia, Abnormality of blood and blood-forming tissues, Abnormality of central motor function, Abnormality of erythrocytes, Abnormality of eye movement, Abnormality of finger, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of movement, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the anterior segment of the eye, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the digits, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the hand, Abnormality of the head, Abnormality of the lens, Abnormality of the male genitalia, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of the testis, Abnormality of the thumb, Abnormality of the upper limb, Abnormality of thrombocytes, Abnormal peripheral myelination, Abnormal platelet count, Adducted thumb, All, Anemia, Anemia of inadequate production, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the testes, Autosomal recessive inheritance, Cataract, Cognitive impairment, Congenital cataract, Decreased testicular size, Diminished movement, EEG abnormality, EEG with generalized epileptiform discharges, Epileptiform EEG discharges, Genital hypoplasia, Growth abnormality, Growth delay, Hypertonia, Hypokinesia, Hypoplastic genitalia, Hypsarrhythmia, Intellectual disability, Macrocytic anemia, Megaloblastic anemia, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Neurophysiological abnormality, Nystagmus, Peripheral dysmyelination, Phenotypic abnormality, Seizures, Spasticity, Spastic tetraplegia, Thrombocytopenia.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Phgdh | CG6287 | C31C9.2 | Sp-Phgdh | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PHGDH | GOT1 | 0.316382382 | PHGDH | GOT1 | cpx146 | no | no | no | Novel |
| PHGDH | MTHFD1 | 0.087665111 | PHGDH | MTHFD1 | cpx962 | no | no | no | Novel |
| PHGDH | HSPE1 | 0.245269761 | PHGDH | HSPE1 | cpx146 | no | no | no | Novel |
| PHGDH | LDHB | 0.083427883 | PHGDH | LDHB | cpx901 | no | no | no | Novel |
| GDI2 | PHGDH | 0.062007054 | GDI2 | PHGDH | cpx962 | no | no | no | Novel |
| PHGDH | STIP1 | 0.161247153 | PHGDH | STIP1 | cpx962 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| PHGDH | PROSC | 0.120604983 | PHGDH | PROSC |
| PHGDH | PLIN3 | 0.128252057 | PHGDH | PLIN3 |
| PHGDH | ASNS | 0.186607379 | PHGDH | ASNS |
| PHGDH | GPD1L | 0.14938725 | PHGDH | GPD1L |
| PHGDH | RAD23A | 0.126575821 | PHGDH | RAD23A |
| PHGDH | PABPC1 | 0.070278275 | PHGDH | PABPC1 |
| PHGDH | RAD23B | 0.096189246 | PHGDH | RAD23B |
| PHGDH | TYMS | 0.152802935 | PHGDH | TYMS |
| PSPH | PHGDH | 0.177949427 | PSPH | PHGDH |
| PHGDH | CCDC25 | 0.126136458 | PHGDH | CCDC25 |
| PHGDH | UBE2N | 0.087428724 | PHGDH | UBE2N |
| VAPA | PHGDH | 0.108568703 | VAPA | PHGDH |
| PHGDH | UQCRFS1 | 0.075193867 | PHGDH | UQCRFS1 |
| PHGDH | NUDT9 | 0.117243166 | PHGDH | NUDT9 |
| PHGDH | GDPGP1 | 0.10698924 | PHGDH | GDPGP1 |
| PHGDH | USP7 | 0.10691324 | PHGDH | USP7 |
| PHGDH | UBE2NL | 0.073686478 | PHGDH | UBE2NL |
| NECAP1 | PHGDH | 0.077308997 | NECAP1 | PHGDH |
| PHGDH | PSAT1 | 0.274352591 | PHGDH | PSAT1 |
| PHGDH | ASS1 | 0.099905919 | PHGDH | ASS1 |
| PHGDH | ADH5 | 0.162488689 | PHGDH | ADH5 |
| PHGDH | MYL6 | 0.132756942 | PHGDH | MYL6 |
| PHGDH | HNRNPA1 | 0.208096516 | PHGDH | HNRNPA1 |
| PGAM1 | PHGDH | 0.072987131 | PGAM1 | PHGDH |
| PHGDH | PABPC4 | 0.102627228 | PHGDH | PABPC4 |