PATE2

Chr 11

prostate and testis expressed 2

Also known as: C11orf38, PATE-M, UNQ3112

PATE2 encodes a protein that is located in the extracellular space. The gene shows low constraint against loss-of-function variants (pLI = 0.0006, LOEUF = 1.74), but no established disease associations with pathogenic mutations have been reported in the medical literature.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
62
P/LP submissions
0%
P/LP missense
1.74
LOEUF
Mechanism
Clinical SummaryPATE2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
62 unique Pathogenic / Likely Pathogenic· 26 VUS of 91 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.74LOEUF
pLI 0.001
Z-score 0.20
OE 0.91 (0.471.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.30Z-score
OE missense 1.11 (0.911.36)
66 obs / 59.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.91 (0.471.74)
00.351.4
Missense OE1.11 (0.911.36)
00.61.4
Synonymous OE1.18
01.21.6
LoF obs/exp: 5 / 5.5Missense obs/exp: 66 / 59.6Syn Z: -0.65

ClinVar Variant Classifications

91 submitted variants in ClinVar

Classification Summary

Pathogenic60
Likely Pathogenic2
VUS26
60
Pathogenic
2
Likely Pathogenic
26
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
60
0
60
Likely Pathogenic
0
0
2
0
2
VUS
0
23
3
0
26
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total02365088

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

View in ClinVar →

Protein Context — Lollipop Plot

PATE2 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found