TMEM102

protein-coding

transmembrane protein 102

Gene summary

Involved in regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway; response to cytokine; and signal transduction. Acts upstream of or within positive regulation of T cell migration and positive regulation of cell adhesion. Located in cell surface. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_178518.3

Inheritance

—

ClinVar variants

U:79B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.66

Max pathogenic AF

—

Genomic locus

chr17:7,435,435-7,437,679

External References & Databases

Ensembl (ENSG00000181284)

Transcript & Mutation Effects

hg38 • Region Span ~2.2 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 TMEM102 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 77

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178518.3. 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			76 clinvar	2 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	79	3	0	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178518.3	RefSeq	NP_848613.1	2	MANE Select
ENST00000323206.2	Ensembl	ENSP00000315387.1	2	MANE Select
NM_001320444.1	RefSeq	NP_001307373.1	2	Standard
ENST00000396568.1	Ensembl	ENSP00000379815.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

apoptotic process
signal transduction
positive regulation of T cell chemotaxis
response to cytokine
positive regulation of cell adhesion

Molecular Function

protein binding

Cellular Component

mitochondrion
plasma membrane
cell surface
integral component of membrane
protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000323206
Coding exons: 2
Length: 2237
Individuals with no LoFs: 124115
Homozygous LoFs: 5
Heterozygous LoFs: 1621
Defined: 125741
p: 0.00649

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.921	228	271	0.842	0.0000130	3136
Missense (PolyPhen)		98	112	0.87504		1360
Synonymous	1.11	113	129	0.876	0.00000667	1190
Loss of Function	1.22	10	15.1	0.661	7.12e-7	147

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0015	0.0015	notable
Latino/Admixed American	0.0041	0.0041	notable
Ashkenazi Jewish	0.0047	0.0044	notable
East Asian	0.00022	0.00022	rare
Finnish	0.0070	0.0070	notable
European (Non-Finnish)	0.011	0.010	notable
South Asian	0.0017	0.0016	notable
Other	0.0077	0.0075	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Selectively involved in CSF2 deprivation-induced apoptosis via a mitochondria-dependent pathway. {ECO:0000269|PubMed:17828305}.;

Recessive Scores

pRec: 0.0992

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.937

Gene Damage Prediction

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