TMEM164

Chr X

transmembrane protein 164

Also known as: bB360B22.3

NCBI Gene: 84187ENSG00000157600UniProt: Q5U3C3

The TMEM164 protein regulates ferroptosis by mediating the acylation of ether lysophospholipids and controlling autophagosome formation to promote iron accumulation and lipid peroxidation. This gene is highly constrained against loss-of-function variants (pLI 0.94, LOEUF 0.33), but no human diseases have been definitively associated with TMEM164 mutations to date.

ResearchSummary from RefSeq, UniProt
LOEUF 0.33
Clinical Summary— TMEM164
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
93 unique Pathogenic / Likely Pathogenic· 29 VUS of 200 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 0.944
Z-score 2.80
OE 0.00 (0.00–0.33)
Highly constrained

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

Missense Constraint
2.36Z-score
OE missense 0.41 (0.32–0.51)
51 obs / 125.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.33)
0≤0.351.4
Missense OE0.41 (0.32–0.51)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 0 / 9.1Missense obs/exp: 51 / 125.5Syn Z: 0.18

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic90
Likely Pathogenic3
VUS29
Likely Benign4
90
Pathogenic
3
Likely Pathogenic
29
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
90
0
90
Likely Pathogenic
0
0
3
0
3
VUS
1
19
9
0
29
Likely Benign
0
3
0
1
4
Benign
0
0
0
0
0
Total1221021126

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

View in ClinVar →

Protein Context — Lollipop Plot

TMEM164 · 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
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 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