TMEM232

Chr 5

transmembrane protein 232

NCBI Gene: 642987 ENSG00000186952 UniProt: C9JQI7

Predicted to be involved in flagellated sperm motility and spermatid cytoplasm removal during spermiation of flagellated sperm. Predicted to act upstream of or within maintenance of protein complex location. Predicted to be located in membrane. Predicted to be active in outer dense fiber. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

GOFmechanismLOEUF 1.08

Clinical Summary— TMEM232

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 97 VUS of 112 total submissions

Explore recent and relevant literature in Research Assistant →

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?

1.08LOEUF

pLI 0.000

Z-score 1.23

OE 0.75 (0.53–1.08)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.07Z-score

OE missense 0.99 (0.89–1.10)

253 obs / 256.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.75 (0.53–1.08)

0≤0.351.4

Missense OE?0.99 (0.89–1.10)

0≤0.61.4

Synonymous OE?1.04

0≤1.21.6

LoF obs/exp: 21 / 28.1Missense obs/exp: 253 / 256.0Syn Z: -0.34

This gene — mechanism propensity

0.5869th %ile

GOF

0.6345th %ile

LOF

0.3745th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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

112 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS97

Likely Benign8

Pathogenic

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	1	0	1
Likely Pathogenic	0	0	0	0	0
VUS	1	96	0	0	97
Likely Benign	0	4	2	2	8
Benign	0	0	0	0	0
Total	1	100	3	2	106

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

View in ClinVar →

25 pathogenic / likely-pathogenic (of 42) ClinVar copy-number / structural variants overlap TMEM232 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →