Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
66036
Gene name Gene Name - the full gene name approved by the HGNC.
Myotubularin related protein 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTMR9
Synonyms (NCBI Gene) Gene synonyms aliases
C8orf9, LIP-STYX, MTMR8
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
Summary Summary 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
miRNA miRNA 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: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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606260 14596 ENSG00000104643
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Essential hypertension (time to event) N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 39524444
Carcinoma Hepatocellular Associate 36965814
Metabolic Syndrome Associate 21796137