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 th... See more...

Aliases for MTMR9 Gene

Aliases for MTMR9 Gene

  • Myotubularin Related Protein 9 2 3 5
  • Inactive Phosphatidylinositol 3-Phosphatase 9 3 4
  • Myotubularin Related Protein 8 2 3
  • Myotubularin-Related Protein 9 3 4
  • LIP-STYX 2 3
  • C8orf9 3 4
  • MTMR8 3 4
  • DKFZp434K171 2
  • MTMR9 5

External Ids for MTMR9 Gene

Previous HGNC Symbols for MTMR9 Gene

  • C8orf9
  • MTMR8

Previous GeneCards Identifiers for MTMR9 Gene

  • GC08P011205
  • GC08P011135
  • GC08P011013
  • GC08P011179
  • GC08P011141
  • GC08P010072

Summaries for MTMR9 Gene

Entrez Gene Summary for MTMR9 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 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]

GeneCards Summary for MTMR9 Gene

MTMR9 (Myotubularin Related Protein 9) is a Protein Coding gene. Diseases associated with MTMR9 include Keratolytic Winter Erythema and Generalized Epilepsy With Febrile Seizures Plus, Type 6. Gene Ontology (GO) annotations related to this gene include phosphatase activity and enzyme regulator activity. An important paralog of this gene is MTMR1.

UniProtKB/Swiss-Prot Summary for MTMR9 Gene

  • 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 phosphorylated phosphatidylinositols (PubMed:19038970, PubMed:22647598). Positively regulates lipid phosphatase MTMR7 catalytic activity (By similarity). Increases MTMR8 catalytic activity towards phosphatidylinositol 3-phosphate (PubMed:22647598). The formation of the MTMR6-MTMR9 complex, stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970). Stabilizes MTMR8 protein levels (PubMed:22647598). Plays a role in the late stages of macropinocytosis possibly by regulating MTMR6-mediated dephosphorylation of phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Negatively regulates autophagy, in part via its association with MTMR8 (PubMed:22647598). Negatively regulates DNA damage-induced apoptosis, in part via its association with MTMR6 (PubMed:19038970, PubMed:22647598). Does not bind mono-, di- and tri-phosphorylated phosphatidylinositols, phosphatidic acid and phosphatidylserine (PubMed:19038970).

Gene Wiki entry for MTMR9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR9 Gene

Genomics for MTMR9 Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around MTMR9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR9

Top Transcription factor binding sites by QIAGEN in the MTMR9 gene promoter:
  • AML1a
  • c-Ets-1
  • GATA-1
  • Lmo2
  • NRF-2
  • POU2F1c
  • POU3F1
  • POU3F2
  • STAT5A
  • TBP

Genomic Locations for MTMR9 Gene

Latest Assembly
chr8:11,284,416-11,328,146
(GRCh38/hg38)
Size:
43,731 bases
Orientation:
Plus strand

Previous Assembly
chr8:11,142,325-11,185,655
(GRCh37/hg19 by Entrez Gene)
Size:
43,331 bases
Orientation:
Plus strand

chr8:11,141,925-11,185,646
(GRCh37/hg19 by Ensembl)
Size:
43,722 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):2,018,699-2,062,035 (-)

Genomic View for MTMR9 Gene

Genes around MTMR9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR9 Gene

Proteins for MTMR9 Gene

  • Protein details for MTMR9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QG7-MTMR9_HUMAN
    Recommended name:
    Myotubularin-related protein 9
    Protein Accession:
    Q96QG7
    Secondary Accessions:
    • B7Z291
    • Q52LU3
    • Q8WW11
    • Q96QG6
    • Q9NX50

    Protein attributes for MTMR9 Gene

    Size:
    549 amino acids
    Molecular mass:
    63462 Da
    Quaternary structure:
    • Homodimer (PubMed:19038970). Heterodimer (via C-terminus) with lipid phosphatase MTMR6 (via C-terminus) (PubMed:16787938, PubMed:12890864, PubMed:19038970, PubMed:23188820). Heterodimer (via coiled coil domain) with lipid phosphatase MTMR7 (via C-terminus) (By similarity). Heterodimer with lipid phosphatase MTMR8 (PubMed:22647598, PubMed:16787938).

    Alternative splice isoforms for MTMR9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR9 Gene

Post-translational modifications for MTMR9 Gene

  • Ubiquitination at Lys8
  • Modification sites at PhosphoSitePlus

Other Protein References for MTMR9 Gene

Antibodies for research

  • Abcam antibodies for MTMR9
  • Boster Bio Antibodies for MTMR9
  • Santa Cruz Biotechnology (SCBT) Antibodies for MTMR9

No data available for DME Specific Peptides for MTMR9 Gene

Domains & Families for MTMR9 Gene

Gene Families for MTMR9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for MTMR9 Gene

Suggested Antigen Peptide Sequences for MTMR9 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50137, highly similar to Myotubularin-related protein 9 (B7Z291_HUMAN)
  • Myotubularin-related protein 9 (MTMR9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96QG7

UniProtKB/Swiss-Prot:

MTMR9_HUMAN :
  • The GRAM domain is required for cell membrane localization.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • The GRAM domain is required for cell membrane localization.
  • The coiled coil domain mediates interaction with MTMR9.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
genes like me logo Genes that share domains with MTMR9: view

Function for MTMR9 Gene

Molecular function for MTMR9 Gene

UniProtKB/Swiss-Prot 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 phosphorylated phosphatidylinositols (PubMed:19038970, PubMed:22647598). Positively regulates lipid phosphatase MTMR7 catalytic activity (By similarity). Increases MTMR8 catalytic activity towards phosphatidylinositol 3-phosphate (PubMed:22647598). The formation of the MTMR6-MTMR9 complex, stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970). Stabilizes MTMR8 protein levels (PubMed:22647598). Plays a role in the late stages of macropinocytosis possibly by regulating MTMR6-mediated dephosphorylation of phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Negatively regulates autophagy, in part via its association with MTMR8 (PubMed:22647598). Negatively regulates DNA damage-induced apoptosis, in part via its association with MTMR6 (PubMed:19038970, PubMed:22647598). Does not bind mono-, di- and tri-phosphorylated phosphatidylinositols, phosphatidic acid and phosphatidylserine (PubMed:19038970).

Phenotypes From GWAS Catalog for MTMR9 Gene

Gene Ontology (GO) - Molecular Function for MTMR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IBA 21873635
GO:0005515 protein binding IPI 12890864
GO:0019903 protein phosphatase binding IPI 16787938
GO:0030234 enzyme regulator activity IEA --
genes like me logo Genes that share ontologies with MTMR9: view
genes like me logo Genes that share phenotypes with MTMR9: view

miRNA for MTMR9 Gene

miRTarBase miRNAs that target MTMR9

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTMR9 Gene

Localization for MTMR9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR9 Gene

Cytoplasm. Cell projection, ruffle membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasm, perinuclear region. Endoplasmic reticulum. Note=Localizes to ruffles during EGF-induced macropinocytosis (By similarity). Colocalizes with MTMR6 to the perinuclear region (PubMed:19038970). Partially localizes to the endoplasmic reticulum (PubMed:19038970). {ECO:0000250 UniProtKB:Q9Z2D0, ECO:0000269 PubMed:19038970}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTMR9 gene
Compartment Confidence
cytosol 5
plasma membrane 3
endoplasmic reticulum 3
nucleus 2
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTMR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 16787938
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with MTMR9: view

Pathways & Interactions for MTMR9 Gene

PathCards logo

SuperPathways for MTMR9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTMR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006897 endocytosis IEA --
GO:0010507 negative regulation of autophagy IPI 22647598
GO:0010922 positive regulation of phosphatase activity IDA 22647598
GO:0046856 phosphatidylinositol dephosphorylation IBA 21873635
genes like me logo Genes that share ontologies with MTMR9: view

No data available for Pathways by source and SIGNOR curated interactions for MTMR9 Gene

Drugs & Compounds for MTMR9 Gene

No Compound Related Data Available

Transcripts for MTMR9 Gene

mRNA/cDNA for MTMR9 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR9

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR9 Gene

No ASD Table

Relevant External Links for MTMR9 Gene

GeneLoc Exon Structure for
MTMR9

Expression for MTMR9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTMR9 Gene

Protein differential expression in normal tissues from HIPED for MTMR9 Gene

This gene is overexpressed in Uterus (13.6), Testis (8.4), and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTMR9 Gene



Protein tissue co-expression partners for MTMR9 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTMR9

SOURCE GeneReport for Unigene cluster for MTMR9 Gene:

Hs.591395

mRNA Expression by UniProt/SwissProt for MTMR9 Gene:

Q96QG7-MTMR9_HUMAN
Tissue specificity: Expressed in many tissues.

Evidence on tissue expression from TISSUES for MTMR9 Gene

  • Nervous system(4.8)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with MTMR9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTMR9 Gene

Orthologs for MTMR9 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTMR9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTMR9 29 30
  • 99.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTMR9 30
  • 96 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTMR9 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MTMR9 29 30
  • 92.71 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mtmr9 29 16 30
  • 88.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtmr9 29
  • 88.1 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MTMR9 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTMR9 29 30
  • 76.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTMR9 30
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtmr9 29
  • 75.71 (n)
Zebrafish
(Danio rerio)
Actinopterygii mtmr9 29 30
  • 72.98 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003266 29
  • 52.64 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5026 29 30
  • 52.57 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mtm-9 29 30
  • 50.77 (n)
OneToOne
Species where no ortholog for MTMR9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MTMR9 Gene

ENSEMBL:
Gene Tree for MTMR9 (if available)
TreeFam:
Gene Tree for MTMR9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR9: view image
Alliance of Genome Resources:
Additional Orthologs for MTMR9

Paralogs for MTMR9 Gene

(9) SIMAP similar genes for MTMR9 Gene using alignment to 3 proteins:

  • MTMR9_HUMAN
  • B7Z291_HUMAN
  • E9PR67_HUMAN

Pseudogenes.org Pseudogenes for MTMR9 Gene

genes like me logo Genes that share paralogs with MTMR9: view

Variants for MTMR9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR9 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs113268086 Benign: not provided 11,314,968(+) C/T
NM_015458.4(MTMR9):c.1017C>T (p.Ser339=)
SYNONYMOUS
rs116655282 Benign: not provided 11,300,108(+) C/G
NM_015458.4(MTMR9):c.377C>G (p.Ser126Cys)
MISSENSE
rs139630635 Likely Benign: not provided 11,315,027(+) G/C
NM_015458.4(MTMR9):c.1076G>C (p.Arg359Pro)
MISSENSE
rs74800008 Benign: not provided 11,322,779(+) G/C
NM_015458.4(MTMR9):c.1641G>C (p.Glu547Asp)
MISSENSE
VAR_082147 -- p.Asn472Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTMR9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MTMR9 Gene

Variant ID Type Subtype PubMed ID
esv2658364 CNV deletion 23128226
esv3331569 CNV insertion 20981092
esv34097 CNV loss 18971310
esv3616241 CNV loss 21293372
esv3616242 CNV loss 21293372
esv3616243 CNV loss 21293372
nsv1033312 CNV loss 25217958
nsv1140892 CNV deletion 24896259
nsv831233 CNV gain 17160897
nsv981910 CNV duplication 23825009

Variation tolerance for MTMR9 Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTMR9 Gene

Human Gene Mutation Database (HGMD)
MTMR9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR9
Leiden Open Variation Database (LOVD)
MTMR9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR9 Gene

Disorders for MTMR9 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MTMR9 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MTMR9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTMR9

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MTMR9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTMR9 Gene

Publications for MTMR9 Gene

  1. Identification and localization of a new human myotubularin-related protein gene, mtmr8, on 8p22-p23. (PMID: 11472061) Appel S … Hennies HC (Genomics 2001) 2 3 4 22
  2. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. (PMID: 19038970) Zou J … Majerus PW (The Journal of biological chemistry 2009) 3 4 22
  3. Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9. (PMID: 12890864) Mochizuki Y … Majerus PW (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4
  4. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. (PMID: 11896452) Appel S … Rosenthal A (European journal of human genetics : EJHG 2002) 2 3 22
  5. Sequential breakdown of 3-phosphorylated phosphoinositides is essential for the completion of macropinocytosis. (PMID: 24591580) Maekawa M … Arai H (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4

Products for MTMR9 Gene

Sources for MTMR9 Gene