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MTMR9 (myotubularin related protein 9)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
66036
Gene nameGene Name - the full gene name approved by the HGNC.
Myotubularin related protein 9
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MTMR9
SynonymsGene synonyms aliases
C8orf9, LIP-STYX, MTMR8
ChromosomeChromosome number
8
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004438 Function Phosphatidylinositol-3-phosphatase activity IBA 21873635
GO:0005515 Function Protein binding IPI 12890864, 16189514, 19447967, 21516116, 22647598, 25416956, 28514442, 29892012, 31515488, 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 16787938
GO:0005783 Component Endoplasmic reticulum IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
Sequence length 549
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Synthesis of PIPs at the plasma membrane
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Obesity Obesity rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 17855449

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