Gene Gene information from NCBI Gene database.
Entrez ID 66036
Gene name Myotubularin related protein 9
Gene symbol MTMR9
Synonyms (NCBI Gene)
C8orf9LIP-STYXMTMR8
Chromosome 8
Chromosome location 8p23.1
Summary 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 SE
miRNA miRNA information provided by mirtarbase database.
864
miRTarBase ID miRNA Experiments Reference
MIRT020334 hsa-miR-130b-3p Sequencing 20371350
MIRT025530 hsa-miR-34a-5p Sequencing 20371350
MIRT026001 hsa-miR-148a-3p Sequencing 20371350
MIRT030977 hsa-miR-21-5p Microarray 18591254
MIRT706537 hsa-miR-106a-5p HITS-CLIP 22927820
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12890864, 16189514, 19447967, 21516116, 22647598, 25416956, 27880917, 28514442, 29892012, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 16787938
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606260 14596 ENSG00000104643
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QG7
Protein name Myotubularin-related protein 9 (Inactive phosphatidylinositol 3-phosphatase 9)
Protein function Acts as an adapter for myotubularin-related phosphatases (PubMed:19038970, PubMed:22647598). Increases lipid phosphatase MTMR6 catalytic activity, specifically towards phosphatidylinositol 3,5-bisphosphate and MTMR6 binding affinity for phosphor
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06602 Myotub-related 108 446 Myotubularin-like phosphatase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many tissues. {ECO:0000269|PubMed:11472061}.
Sequence
Sequence length 549
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PIPs at the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 39524444 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36965814 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 25502460 Associate
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 17855449
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome Metabolic syndrome Pubtator 21796137 Associate
★☆☆☆☆
Found in Text Mining only
Metabolic Syndrome X Metabolic Syndrome BEFREE 21796137, 24937802
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple sclerosis Pubtator 35905688 Associate
★☆☆☆☆
Found in Text Mining only
Obesity Obesity BEFREE 17855449, 21796137, 24937802
★☆☆☆☆
Found in Text Mining only
Obesity Obesity GWASDB_DG 17855449
★☆☆☆☆
Found in Text Mining only