TMEM102

Chr 17

transmembrane protein 102

Also known as: CBAP, D2B

NCBI Gene: 284114 ENSG00000181284 UniProt: Q8N9M5 OMIM: 613936

The protein regulates mitochondrial outer membrane permeabilization during apoptosis, particularly in response to cytokine deprivation, and is involved in T cell migration and cell adhesion. Mutations cause autosomal recessive intellectual disability with seizures and hypotonia. This gene shows minimal constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOEUF 1.12

Clinical Summary— TMEM102

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

75 VUS of 83 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.12LOEUF

pLI 0.000

Z-score 1.22

OE 0.66 (0.41–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.92Z-score

OE missense 0.84 (0.76–0.94)

228 obs / 270.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.66 (0.41–1.12)

0≤0.351.4

Missense OE?0.84 (0.76–0.94)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 10 / 15.1Missense obs/exp: 228 / 270.6Syn Z: 1.11

ClinVar Variant Classifications

83 submitted variants in ClinVar

ClinVar

Classification Summary

VUS75

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	75	0	75
Likely Benign	2	1	3
Benign	0	0	0
Total	77	1	78

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

28 pathogenic / likely-pathogenic (of 34) ClinVar copy-number / structural variants overlap TMEM102 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →