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; and positive regulation of metabolic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
5
Pubs (1 yr)
29
P/LP submissions
3%
P/LP missense
1.21
LOEUF
—
Mechanism
Clinical Summary— PID1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
29 unique Pathogenic / Likely Pathogenic· 36 VUS of 72 total submissions
Explore recent and relevant literature in Research Assistant →

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 OE0.58 (0.30–1.21)
0≤0.351.4
Missense OE0.94 (0.82–1.08)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 5 / 8.7Missense obs/exp: 138 / 147.2Syn Z: -0.07

ClinVar Variant Classifications

72 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic1
VUS36
Likely Benign2
28
Pathogenic
1
Likely Pathogenic
36
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
28
0
28
Likely Pathogenic
0
1
0
0
1
VUS
0
33
3
0
36
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total03631067

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Single-cell transcriptomics identifies fibroblast associated immune heterogeneity and prognostic signatures in bladder cancer
Tang X et al.·Sci Rep
2026
Identification and validation of a novel mitochondrion-related gene signature for diagnosis and immune infiltration in sepsis
Hao S et al.·Front Immunol
2023
Identification of candidate gene networks affecting the number of somatic cells count and milk production in Iranian Holstein cows using Genome-wide association study
Maddahi N et al.·Sci Rep
2025
Genome-Wide Association Analysis Reveals Novel Loci Related with Visual Score Traits in Nellore Cattle Raised in Pasture-Based Systems
Machado PC et al.·Animals (Basel)
2022
Repeated mild traumatic brain injury causes sex-specific increases in cell proliferation and inflammation in juvenile rats
Neale KJ et al.·J Neuroinflammation
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Single-cell analysis identifies distinct macrophage phenotypes associated with prodisease and proresolving functions in the endometriotic niche.
Henlon Y et al.·Proc Natl Acad Sci U S A
2024
Microarray Expression Data Identify DCC as a Candidate Gene for Early Meningioma Progression.
Schulten HJ et al.·PLoS One
2016
Novel RNA biomarkers improve discrimination of children with tuberculosis disease from those with non-TB pneumonia after in vitro stimulation.
Vito O et al.·Front Immunol
2024
Whole-Genome Bisulfite Sequencing of Human Pancreatic Islets Reveals Novel Differentially Methylated Regions in Type 2 Diabetes Pathogenesis.
Volkov P et al.·Diabetes
2017
The Effect of Different Case Definitions of Current Smoking on the Discovery of Smoking-Related Blood Gene Expression Signatures in Chronic Obstructive Pulmonary Disease.
Obeidat M et al.·Nicotine Tob Res
2016
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
As a New Tumor Suppressor Gene, PID1 Activates the AMPK-mTOR Signal to Inhibit the Progression of Bladder Cancer.
Sun L et al.·Res Rep Urol
2025Open Access
Identification and experimental validation of diagnostic and prognostic genes CX3CR1, PID1 and PTGDS in sepsis and ARDS using bulk and single-cell transcriptomic analysis and machine learning.
Jiang J et al.·Front Immunol
2024Open Access
Dual role of PID1 in regulating apoptosis induced by distinct anticancer-agents through AKT/Raf-1-dependent pathway in hepatocellular carcinoma.
Yang J et al.·Cell Death Discov
2023Open Access
IGF2BP2 Induces U251 Glioblastoma Cell Chemoresistance by Inhibiting FOXO1-Mediated PID1 Expression Through Stabilizing lncRNA DANCR.
Han J et al.·Front Cell Dev Biol
2021Open Access
PID1 is associated to a respiratory endotype related to occupational exposures to irritants.
Andrianjafimasy M et al.·Free Radic Biol Med
2021
Top 5 resultsSearch Europe PMC ↗

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