TSPAN18

protein-coding

tetraspanin 18, the group of Tetraspanins

Gene summary

Enables transmembrane transporter binding activity. Involved in regulation of sprouting angiogenesis. Acts upstream of or within several processes, including calcium-ion regulated exocytosis; protein localization to cell periphery; and regulation of store-operated calcium entry. Located in cell periphery. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_130783.5

Inheritance

ClinVar variants

U:37B:6

Top phenotype

TSPAN18-related disorder

gnomAD constraint

pLI —, LoF o/e 0.31

Max pathogenic AF

—

Genomic locus

chr11:44,726,465-44,932,423

External References & Databases

Ensembl (ENSG00000157570)

Transcript & Mutation Effects

hg38 • Region Span ~206.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

intellectual disabilityLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0001071

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TSPAN18 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 36

TSPAN18-related disorderTotal: 4

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_130783.5. 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			1 clinvar	3 clinvar	2 clinvar	6
missense			36 clinvar		1 clinvar	37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	3	3	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 54 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_130783.5	RefSeq	NP_570139.3	7	MANE Select
ENST00000520358.7	Ensembl	ENSP00000429993.2	7	MANE Select
ENST00000340160.7	Ensembl	ENSP00000339820.3	7	Standard
ENST00000340160.8	Ensembl	ENSP00000339820.3	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell surface receptor signaling pathway

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340160
Coding exons: 7
Length: 205958
Individuals with no LoFs: 125733
Homozygous LoFs: 0
Heterozygous LoFs: 11
Defined: 125744
p: 0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.804	128	156	0.819	0.00000984	1618
Missense (PolyPhen)		42	51.438	0.81652		543
Synonymous	-0.663	76	69.0	1.10	0.00000474	506
Loss of Function	2.27	4	12.8	0.314	6.94e-7	133

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000027	0.000026	rare
South Asian	0.00013	0.00013	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.102

Intolerance Scores

LoFtool: 0.244
RVIS EVS: 0.02
RVIS percentile EVS: 55.45

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.131