TMEM14C

Chr 6

transmembrane protein 14C

Also known as: C6orf53, HSPC194, MSTP073, NET26, bA421M1.6

NCBI Gene: 51522ENSG00000111843UniProt: Q9P0S9

Predicted to enable transmembrane transporter activity. Predicted to be involved in heme biosynthetic process. Predicted to act upstream of or within erythrocyte differentiation and mitochondrial transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.43
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.43LOEUF
pLI 0.006
Z-score 0.85
OE 0.63 (0.31–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.17Z-score
OE missense 0.94 (0.76–1.17)
60 obs / 63.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.31–1.43)
0≤0.351.4
Missense OE?0.94 (0.76–1.17)
0≤0.61.4
Synonymous OE?1.14
0≤1.21.6
LoF obs/exp: 4 / 6.3Missense obs/exp: 60 / 63.8Syn Z: -0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMEM14C · 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 →

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