TSPAN10

protein-coding

tetraspanin 10, the group of Tetraspanins

Gene summary

Enables enzyme binding activity. Involved in establishment of protein localization to organelle. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001290212.2

Inheritance

—

ClinVar variants

U:45B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.19

Max pathogenic AF

—

Genomic locus

chr17:81,637,171-81,648,754

External References & Databases

Ensembl (ENSG00000182612)

Transcript & Mutation Effects

hg38 • Region Span ~11.6 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 TSPAN10 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 48

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001290212.2. 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
missense			44 clinvar	4 clinvar	1 clinvar	49
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	4	1	50

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001290212.2	RefSeq	NP_001277141.2	3	MANE Select
ENST00000611590.2	Ensembl	ENSP00000484664.1	3	MANE Select
NM_031945.5	RefSeq	NP_114151.3	3	Standard
ENST00000621293.4	Ensembl	ENSP00000482695.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell surface receptor signaling pathway
establishment of protein localization to organelle

Molecular Function

enzyme binding

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: polymorphic_pseudogene
Transcript type: protein_coding
Transcript: ENST00000328585
Coding exons: 4
Length: 11583
Individuals with no LoFs: 124576
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 124586
p: 0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0233	168	169	0.995	0.00000891	2143
Missense (PolyPhen)		27	21.334	1.2656		187
Synonymous	-1.03	95	83.1	1.14	0.00000481	795
Loss of Function	-0.423	7	5.89	1.19	2.50e-7	73

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00014	0.00013	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000037	0.000035	rare
South Asian	0.000075	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulates maturation of the transmembrane metalloprotease ADAM10. {ECO:0000250|UniProtKB:Q8VCF5}.;

Recessive Scores

pRec: 0.0993

Essentials

Essential (CRISPR2): S