PITPNA

Chr 17

phosphatidylinositol transfer protein alpha

Also known as: HEL-S-36, PI-TPalpha, PITPN, VIB1A

NCBI Gene: 5306ENSG00000174238UniProt: Q00169OMIM: 600174

This gene encodes a lipid transfer protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between cellular membranes, with preference for shorter saturated or monounsaturated acyl chains. The protein is involved in phospholipase C signaling and phosphatidylinositol 3,4,5-trisphosphate production by phosphoinositide-3-kinase. No disease associations are currently established for mutations in this gene based on the provided information.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.33
Clinical Summary— PITPNA
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
101 unique Pathogenic / Likely Pathogenic· 34 VUS of 156 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.33LOEUF
pLI 0.965
Z-score 3.94
OE 0.13 (0.06–0.33)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.44Z-score
OE missense 0.44 (0.36–0.54)
67 obs / 151.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.13 (0.06–0.33)
0≤0.351.4
Missense OE0.44 (0.36–0.54)
0≤0.61.4
Synonymous OE1.03
0≤1.21.6
LoF obs/exp: 3 / 23.7Missense obs/exp: 67 / 151.7Syn Z: -0.18

ClinVar Variant Classifications

156 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic84
Likely Pathogenic17
VUS34
Likely Benign1
84
Pathogenic
17
Likely Pathogenic
34
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
84
0
84
Likely Pathogenic
0
0
17
0
17
VUS
0
18
16
0
34
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total0191170136

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

View in ClinVar →

Protein Context — Lollipop Plot

PITPNA · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

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
LncRNA PITPNA-AS1 as a Potential Diagnostic Marker and Therapeutic Target Promotes Hepatocellular Carcinoma Progression via Modulating miR-448/ROCK1 Axis
Wang QF et al.·Front Med (Lausanne)
2021
LncRNA PITPNA-AS1 promotes gastric cancer by increasing SOX4 expression via inhibition of miR-92a-3p
Liu L et al.·Aging (Albany NY)
2021
MYBL2-induced PITPNA-AS1 upregulates SIK2 to exert oncogenic function in triple-negative breast cancer through miR-520d-5p and DDX54
Liu B et al.·J Transl Med
2021
Long non-coding RNA PITPNA-AS1 silencing suppresses proliferation, metastasis and epithelial-mesenchymal transition in non-small cell lung cancer cells by targeting microRNA-32-5p
Chen G et al.·Mol Med Rep
2021
LncRNA PITPNA-AS1/miR-223-3p/PTN axis regulates malignant progression and stemness in lung squamous cell carcinoma
Peng BH et al.·J Clin Lab Anal
2022
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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