Identity
HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
EGLN4,HIDEA,HIFPH4,P4H-TM,PH-4,PH4,PHD4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54681
MIM: 614584
HGNC: 28858
Ensembl: ENSG00000178467
Variants:
dbSNP: 54681
ClinVar: 54681
TCGA: ENSG00000178467
COSMIC: P4HTM
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38441145 | 2024 | A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder. | 0 |
| 38441145 | 2024 | A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder. | 0 |
| 37083980 | 2023 | Biallelic Mutations in P4HTM Cause Syndromic Obesity. | 3 |
| 37083980 | 2023 | Biallelic Mutations in P4HTM Cause Syndromic Obesity. | 3 |
| 33334883 | 2021 | Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains. | 6 |
| 33334883 | 2021 | Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains. | 6 |
| 32965080 | 2020 | Further delineation of HIDEA syndrome. | 4 |
| 32965080 | 2020 | Further delineation of HIDEA syndrome. | 4 |
| 27840318 | 2016 | Sestrin2 inhibits hypoxia-inducible factor-1α accumulation via AMPK-mediated prolyl hydroxylase regulation. | 25 |
| 27840318 | 2016 | Sestrin2 inhibits hypoxia-inducible factor-1α accumulation via AMPK-mediated prolyl hydroxylase regulation. | 25 |
| 24895555 | 2014 | The hypoxia-inducible factor pathway, prolyl hydroxylase domain protein inhibitors, and their roles in bone repair and regeneration. | 33 |
| 24895555 | 2014 | The hypoxia-inducible factor pathway, prolyl hydroxylase domain protein inhibitors, and their roles in bone repair and regeneration. | 33 |
| 23241241 | 2012 | Human prolyl hydroxylase expression in uterine leiomyoma during the menstrual cycle. | 1 |
| 23241241 | 2012 | Human prolyl hydroxylase expression in uterine leiomyoma during the menstrual cycle. | 1 |
| 16154531 | 2005 | Regulation of hypoxia-inducible factor 1 by prolyl and asparaginyl hydroxylases. | 92 |
Citation
Dessen P
P4HTM (prolyl 4-hydroxylase, transmembrane)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46815/p4htm
