TMEM87A

Chr 15

transmembrane protein 87A

Also known as: ELKIN1, GOLPHCAT

NCBI Gene: 25963 ENSG00000103978 UniProt: Q8NBN3

Enables voltage-gated monoatomic anion channel activity. Involved in cellular response to mechanical stimulus; detection of mechanical stimulus involved in sensory perception of touch; and intracellular pH reduction. Acts upstream of or within retrograde transport, endosome to Golgi. Located in Golgi apparatus; plasma membrane; and ruffle. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.43

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

Moderate LoF intolerance

LoF Constraint?

0.43LOEUF

pLI 0.081

Z-score 4.32

OE 0.26 (0.16–0.43)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.39Z-score

OE missense 0.77 (0.69–0.86)

223 obs / 289.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.26 (0.16–0.43)

0≤0.351.4

Missense OE?0.77 (0.69–0.86)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 10 / 39.2Missense obs/exp: 223 / 289.8Syn Z: -0.73

Background carrier burden — how many people carry a rare variant somewhere in TMEM87A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

668 rare PASS variants

Rare truncating (LoF)

1 in 2,000

92 rare PASS variants

Rare synonymous (reference)

1 in 300

252 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMEM87A. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 2,600
South Asian	~43k	1 in 120	1 in 2,600
Remaining (unassigned)	~30k	1 in 94	1 in 3,300
European (Finnish)	~27k	1 in 440	1 in 1,200
Admixed American	~22k	1 in 110	1 in 2,200
African / African American	~21k	1 in 150	1 in 1,100
East Asian	~20k	1 in 130	1 in 2,100
Ashkenazi Jewish	~13k	1 in 360	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 100	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 18 of 20 coding exons well covered in gnomAD exomes; exons 7, 17 marginal. Genomes: 19 of 20 (exon 6 below).? see exons ↓