MTMR9

Chr 8

myotubularin related protein 9

Also known as: C8orf9, LIP-STYX, MTMR8

NCBI Gene: 66036ENSG00000104643UniProt: Q96QG7

This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]

0
Active trials
115
Pathogenic / LP
341
ClinVar variants
2
Pubs (1 yr)
-2.3
Missense Z
0.56
LOEUF
Clinical Summary— MTMR9
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.34) despite low pLI — interpret in context.
📋
ClinVar Variants
115 Pathogenic / Likely Pathogenic· 217 VUS of 341 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.56LOEUF
pLI 0.001
Z-score 3.46
OE 0.34 (0.21–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
-2.33Z-score
OE missense 1.38 (1.27–1.49)
418 obs / 303.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.34 (0.21–0.56)
0≤0.351.4
Missense OE1.38 (1.27–1.49)
0≤0.61.4
Synonymous OE1.48
0≤1.21.6
LoF obs/exp: 11 / 32.2Missense obs/exp: 418 / 303.7Syn Z: -4.01

ClinVar Variant Classifications

341 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic111
Likely Pathogenic4
VUS217
Likely Benign5
Benign4
111
Pathogenic
4
Likely Pathogenic
217
VUS
5
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
111
0
111
Likely Pathogenic
0
0
4
0
4
VUS
0
206
11
0
217
Likely Benign
0
4
0
1
5
Benign
0
2
0
2
4
Total02121263341

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

View in ClinVar →

MTMR9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients