PID1

Chr 2

phosphotyrosine interaction domain containing 1

Also known as: HMFN2073, NYGGF4, P-CLI1, PCLI1

NCBI Gene: 55022ENSG00000153823UniProt: Q7Z2X4

Involved in several processes, including negative regulation of ATP biosynthetic process; negative regulation of D-glucose import across plasma membrane; and regulation of gene expression. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.21
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.21LOEUF
pLI 0.003
Z-score 1.16
OE 0.58 (0.30–1.21)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.27Z-score
OE missense 0.94 (0.82–1.08)
138 obs / 147.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.30–1.21)
0≤0.351.4
Missense OE?0.94 (0.82–1.08)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 5 / 8.7Missense obs/exp: 138 / 147.2Syn Z: -0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PID1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients