P4HTM
Chr 3ARprolyl 4-hydroxylase, transmembrane
Also known as: EGLN4, HIDEA, HIFPH4, P4H-TM, PH-4, PH4, PHD4
The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
126 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 5 | 1 | 0 | 0 | 6 |
Likely Pathogenic | 3 | 4 | 0 | 0 | 7 |
VUS | 3 | 85 | 3 | 0 | 91 |
Likely Benign | 0 | 4 | 1 | 8 | 13 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 2 | |||
| Total | 11 | 94 | 5 | 8 | 120 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →13 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap P4HTM — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
P4HTM · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools