TMEM87A

protein-coding

transmembrane protein 87A, the group of 7TM uncharacterized proteins

Gene summary

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]

MANE transcript

NM_015497.5

Inheritance

—

ClinVar variants

U:78

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.26

Max pathogenic AF

—

Genomic locus

chr15:42,210,447-42,273,534

External References & Databases

Ensembl (ENSG00000103978)

Transcript & Mutation Effects

hg38 • Region Span ~63.1 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 TMEM87A variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 62

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015497.5. 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			3 clinvar			3
missense			65 clinvar			65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			10 clinvar			10
Total	0	0	78	0	0	78

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 82 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015497.5	RefSeq	NP_056312.2	20	MANE Select
ENST00000389834.9	Ensembl	ENSP00000374484.4	20	MANE Select
NM_001110503.4	RefSeq	NP_001103973.1	7	Standard
NM_001286487.2	RefSeq	NP_001273416.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miR-targeted genes in muscle cell - TarBase

Biological Process

retrograde transport, endosome to Golgi

Cellular Component

cytosol
integral component of membrane
Golgi cisterna membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000389834
Coding exons: 20
Length: 63132
Individuals with no LoFs: 125737
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 125747
p: 0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.39	223	290	0.770	0.0000142	3609
Missense (PolyPhen)		72	115.86	0.62143		1396
Synonymous	-0.728	111	102	1.09	0.00000481	1031
Loss of Function	4.32	10	39.2	0.255	0.00000207	453

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0.000082	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN). {ECO:0000269|PubMed:26157166}.;

Recessive Scores

pRec: 0.0980

Intolerance Scores

LoFtool: 0.148
RVIS EVS: -0.6
RVIS percentile EVS: 17.91

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.237

Gene Damage Prediction

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