TMEM30A

Chr 6

cell division cycle 50 P4-ATPase accessory subunit A

Also known as: C6orf67, TMEM30A

NCBI Gene: 55754ENSG00000112697UniProt: Q9NV96

Enables aminophospholipid flippase activity and structural molecule activity. Involved in several processes, including phospholipid transport; positive regulation of transport; and xenobiotic transmembrane transport. Located in endoplasmic reticulum; endosome membrane; and plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
12
Pathogenic / LP
44
ClinVar variants
5
Pubs (1 yr)
1.1
Missense Z
0.77
LOEUF
Clinical Summary— TMEM30A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 30 VUS of 44 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.77LOEUF
pLI 0.003
Z-score 2.26
OE 0.41 (0.23–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.06Z-score
OE missense 0.79 (0.70–0.90)
165 obs / 207.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.23–0.77)
0≤0.351.4
Missense OE0.79 (0.70–0.90)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 7 / 17.1Missense obs/exp: 165 / 207.9Syn Z: 0.27
GOFDN
DN
0.6454th %ile
GOF
0.6542th %ile
LOF
0.2288th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
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

44 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
VUS30
Likely Benign2
12
Pathogenic
30
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
12
0
12
Likely Pathogenic
0
0
0
0
0
VUS
0
27
3
0
30
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total02915044

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

View in ClinVar →

TMEM30A · 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 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