TMEM71

Chr 8

transmembrane protein 71

NCBI Gene: 137835ENSG00000165071UniProt: Q6P5X7

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
54
Pathogenic / LP
100
ClinVar variants
5
Pubs (1 yr)
-0.4
Missense Z
1.45
LOEUF
Clinical Summary— TMEM71
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
54 Pathogenic / Likely Pathogenic· 44 VUS of 100 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.45LOEUF
pLI 0.000
Z-score 0.18
OE 0.95 (0.64–1.45)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.37Z-score
OE missense 1.09 (0.95–1.24)
159 obs / 146.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.95 (0.64–1.45)
0≤0.351.4
Missense OE1.09 (0.95–1.24)
0≤0.61.4
Synonymous OE1.08
0≤1.21.6
LoF obs/exp: 16 / 16.8Missense obs/exp: 159 / 146.4Syn Z: -0.45
DN
DN
0.6743th %ile
GOF
0.5661th %ile
LOF
0.4234th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

100 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic54
VUS44
Likely Benign2
54
Pathogenic
44
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
54
0
54
Likely Pathogenic
0
0
0
0
0
VUS
0
35
9
0
44
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total037630100

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

View in ClinVar →

TMEM71 · 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
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 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