TVP23C

Chr 17

trans-golgi network vesicle protein 23 homolog C

Also known as: FAM18B2

NCBI Gene: 201158 ENSG00000175106 UniProt: Q96ET8

The protein is predicted to function in protein secretion and vesicle-mediated transport at the Golgi membrane. Mutations in this gene have not been definitively associated with any recognized human disease or syndrome. The gene appears to tolerate loss-of-function variants well based on population genetic data.

ResearchSummary from RefSeq

Predicted to be involved in protein secretion and vesicle-mediated transport. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.43

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.43LOEUF

pLI 0.000

Z-score 0.60

OE 0.80 (0.47–1.43)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.52Z-score

OE missense 1.12 (0.99–1.27)

167 obs / 149.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.80 (0.47–1.43)

0≤0.351.4

Missense OE?1.12 (0.99–1.27)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 8 / 10.1Missense obs/exp: 167 / 149.0Syn Z: 0.01

Background carrier burden — how many people carry a rare variant somewhere in TVP23C?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

430 rare PASS variants

Rare truncating (LoF)

1 in 1,200

67 rare PASS variants

Rare synonymous (reference)

1 in 190

159 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TVP23C. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

Exome coverage (gnomAD): 6 of 6 coding exons well covered in gnomAD exomes. Genomes: 4 of 6 (exons 4, 6 below).? see exons ↓