PHF24

Chr 9

PHD finger protein 24

ENSG00000122733UniProt: Q9UPV7
0
ClinVar variants
0
Pathogenic / LP
0.07
pLI score
0
Active trials
Clinical Summary— PHF24
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.56LOEUF
pLI 0.070
Z-score 3.05
OE 0.28 (0.15–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.72Z-score
OE missense 0.88 (0.79–0.98)
231 obs / 264.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.28 (0.15–0.56)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.79–0.98)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 6 / 21.1Missense obs/exp: 231 / 264.0Syn Z: 0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PHF24 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Identification of Candidate Genes for Generalized Tonic-Clonic Seizures in Noda Epileptic Rat.
Kuramoto T et al.·Behav Genet
2017
PHF24 is expressed in the inhibitory interneurons in rats.
Numakura Y et al.·Exp Anim
2021
Increased seizure sensitivity, emotional defects and cognitive impairment in PHD finger protein 24 (Phf24)-null rats.
Serikawa T et al.·Behav Brain Res
2019
Contrasting effects of PHD finger protein 24 (PHF24) on brain morphology of the spontaneous generalized tonic-clonic seizure model; Noda epileptic rat (NER) and Phf24-null rat.
Numakura Y et al.·Exp Anim
2026Functional
Proteomic Analysis of Mouse Cerebral Cortex Following Experimental Ischemic Stroke: Identifying Novel Biomarkers of Damage and Repair.
Hamer D et al.·Cell Mol Neurobiol
2025Functional
Physiological α-synuclein S129 phosphorylation mediates postsynaptic and nuclear interactions in the human brain.
Choi SG et al.·bioRxiv
2025
Fine-tuning GPCR-mediated neuromodulation by biasing signaling through different G protein subunits.
Park JC et al.·Mol Cell
2023
Smooth operator(s): dialing up and down neurotransmitter responses by G-protein regulators.
Philibert CE et al.·Trends Cell Biol
2025Review
Dissecting the molecular basis for the modulation of neurotransmitter GPCR signaling by GINIP.
Luebbers A et al.·Structure
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools