TMC7

protein-coding

transmembrane channel like 7, the group of Transmembrane channel like family

Gene summary

Predicted to enable ion channel inhibitor activity and mechanosensitive monoatomic ion channel activity. Predicted to be involved in sensory perception of mechanical stimulus. Predicted to be located in plasma membrane. Predicted to be active in neuronal cell body. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_024847.4

Inheritance

—

ClinVar variants

U:128B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.57

Max pathogenic AF

—

Genomic locus

chr16:18,983,934-19,063,942

External References & Databases

Ensembl (ENSG00000170537)

Transcript & Mutation Effects

hg38 • Region Span ~80.0 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 TMC7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 114

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024847.4. 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	1 clinvar		2
missense			118 clinvar	3 clinvar	1 clinvar	122
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	128	4	1	133

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024847.4	RefSeq	NP_079123.3	16	MANE Select
ENST00000304381.10	Ensembl	ENSP00000304710.5	16	MANE Select
NM_001160364.2	RefSeq	NP_001153836.1	14	Standard
NM_001300732.2	RefSeq	NP_001287661.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

ion transmembrane transport

Molecular Function

ion channel activity
mechanosensitive ion channel activity

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000304381
Coding exons: 16
Length: 80009
Individuals with no LoFs: 125516
Homozygous LoFs: 0
Heterozygous LoFs: 232
Defined: 125748
p: 0.000923

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.26	342	414	0.826	0.0000239	4761
Missense (PolyPhen)		73	102.76	0.71039		1190
Synonymous	-0.339	164	159	1.03	0.00000936	1380
Loss of Function	2.40	21	36.7	0.573	0.00000185	430

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.0017	0.0017	notable
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.00065	0.00065	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.0011	0.0011	notable
South Asian	0.00059	0.00059	rare
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable ion channel. {ECO:0000250}.;

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.667
RVIS EVS: 0.49
RVIS percentile EVS: 79.61

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.189

Gene Damage Prediction

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