TMEM232

protein-coding

transmembrane protein 232, the group of MicroRNA protein coding host genes

Gene summary

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]

MANE transcript

NM_001039763.4

Inheritance

—

ClinVar variants

U:99B:6

Top phenotype

Autism

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr5:110,289,233-110,738,956

External References & Databases

Ensembl (ENSG00000186952)

Transcript & Mutation Effects

hg38 • Region Span ~449.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TMEM232 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 100

not providedTotal: 1

AutismTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001039763.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar		3
missense			98 clinvar	4 clinvar		102
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	99	6	0	105

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001039763.4	RefSeq	NP_001034852.3	13	MANE Select
ENST00000455884.7	Ensembl	ENSP00000401477.2	13	MANE Select
ENST00000511883.6	Ensembl	ENSP00000423904.2	6	Standard
ENST00000512003.7	Ensembl	ENSP00000427785.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000455884
Coding exons: 13
Length: 449724
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0662	253	256	0.988	0.0000117	4293
Missense (PolyPhen)		68	69.138	0.98354		1164
Synonymous	-0.340	97	92.8	1.04	0.00000462	1161
Loss of Function	1.23	21	28.1	0.748	0.00000150	455

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 3.26
RVIS percentile EVS: 99.39

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium