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Aliases for MTMR9 Gene

Aliases for MTMR9 Gene

  • Myotubularin Related Protein 9 2 3 5
  • Myotubularin Related Protein 8 2 3
  • C8orf9 3 4
  • MTMR8 3 4
  • Myotubularin-Related Protein 9 3
  • LIP-STYX 3

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. Gene Ontology (GO) annotations related to this gene include phosphatase activity and enzyme regulator activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot for MTMR9 Gene

  • Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential).

Gene Wiki entry for MTMR9 Gene

Additional gene information for MTMR9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR9 Gene

Genomics for MTMR9 Gene

GeneHancer (GH) Regulatory Elements for MTMR9 Gene

Promoters and enhancers for MTMR9 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J011283 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 659.9 +0.4 432 2.3 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B MTMR9 ENSG00000280273 FDFT1 PINX1 LOC101929290 ENSG00000255020 FAM90A2P FAM86B1 ENSG00000272505
GH08J011506 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.1 +227.7 227713 12 PKNOX1 ZNF493 ZFP64 IRF4 ZNF213 FOS RUNX3 ZNF202 SP3 JUNB PINX1 LOC101929290 FAM167A FAM90A2P MTMR9 FAM66A BLK FAM66D ENSG00000255020 LOC105379241
GH08J011472 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.5 +191.0 191016 5.1 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF335 ZNF121 ELK1 EGR1 FAM167A FAM66A FAM66D ENSG00000253678 LINC00208 ENSG00000249316 LINC00529 DEFB135 ZNF705D RNA5SP252
GH08J011013 Enhancer 1.5 FANTOM5 Ensembl ENCODE 10.7 -268.8 -268848 3.2 PKNOX1 ARNT SIN3A ZNF2 ZNF213 ZNF207 ZNF143 KLF13 SP3 REST PINX1 MTMR9 ENSG00000269918 ENSG00000255310 XKR6 MIR598 PIR55470 GC08P010967
GH08J010850 Enhancer 0.9 Ensembl ENCODE 10.6 -433.7 -433671 0.9 CTCF EBF1 RAD21 ZNF335 ZFHX2 EGR1 ZNF143 EGR2 TRIM22 ELF1 LOC101929248 MTMR9 RP1L1 ENSG00000269918 ENSG00000280294
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR9 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MTMR9 Gene

Genomic Locations for MTMR9 Gene
43,731 bases
Plus strand
43,731 bases
Plus strand

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

    Protein attributes for MTMR9 Gene

    549 amino acids
    Molecular mass:
    63462 Da
    Quaternary structure:
    • Interacts with MTMR6, MTMR7 and MTMR8.

    Alternative splice isoforms for MTMR9 Gene


neXtProt entry for MTMR9 Gene

Post-translational modifications for MTMR9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTMR9 Gene

Antibody Products

  • Abcam 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

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

Suggested Antigen Peptide Sequences for MTMR9 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
  • 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:
Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential).

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 TAS --
GO:0005515 protein binding IPI 12890864
GO:0019903 protein phosphatase binding IPI 16787938
GO:0030234 enzyme regulator activity IEA --
GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity TAS --
genes like me logo Genes that share ontologies with MTMR9: view
genes like me logo Genes that share phenotypes with MTMR9: view

Animal Model Products

miRNA for MTMR9 Gene

miRTarBase miRNAs that target MTMR9

Clone Products

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


Subcellular locations from

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
nucleus 2
mitochondrion 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:0005829 cytosol TAS --
GO:0032991 protein-containing complex IDA 22647598
genes like me logo Genes that share ontologies with MTMR9: view

Pathways & Interactions for MTMR9 Gene

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:0010507 negative regulation of autophagy IPI 22647598
GO:0010922 positive regulation of phosphatase activity IDA 22647598
GO:0016311 dephosphorylation IEA --
GO:0050821 protein stabilization IDA 22647598
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

Unigene Clusters for MTMR9 Gene

Myotubularin related protein 9:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for MTMR9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTMR9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of MTMR9 Gene:


SOURCE GeneReport for Unigene cluster for MTMR9 Gene:


mRNA Expression by UniProt/SwissProt for MTMR9 Gene:

Tissue specificity: Expressed in many tissues.

Evidence on tissue expression from TISSUES for MTMR9 Gene

  • Nervous system(4.7)
  • 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
(Pan troglodytes)
Mammalia MTMR9 34 33
  • 99.03 (n)
(Bos Taurus)
Mammalia MTMR9 34
  • 96 (a)
(Monodelphis domestica)
Mammalia MTMR9 34
  • 93 (a)
(Canis familiaris)
Mammalia MTMR9 34 33
  • 92.71 (n)
(Mus musculus)
Mammalia Mtmr9 16 34 33
  • 88.75 (n)
(Rattus norvegicus)
Mammalia Mtmr9 33
  • 88.1 (n)
(Ornithorhynchus anatinus)
Mammalia MTMR9 34
  • 55 (a)
(Gallus gallus)
Aves MTMR9 34 33
  • 76.66 (n)
(Anolis carolinensis)
Reptilia MTMR9 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr9 33
  • 75.71 (n)
(Danio rerio)
Actinopterygii mtmr9 34 33
  • 72.98 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003266 33
  • 52.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5026 34 33
  • 52.57 (n)
(Caenorhabditis elegans)
Secernentea mtm-9 34 33
  • 50.77 (n)
Species where no ortholog for MTMR9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for MTMR9 (if available)
Gene Tree for MTMR9 (if available)
Evolutionary constrained regions (ECRs) for MTMR9: view image

Paralogs for MTMR9 Gene

Paralogs for MTMR9 Gene

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

  • B7Z291_HUMAN
  • E9PR67_HUMAN Pseudogenes for MTMR9 Gene

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

Variants for MTMR9 Gene

Sequence variations from dbSNP and Humsavar for MTMR9 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000057844 -- 11,308,646(+) C/T intron_variant
rs1000070622 -- 11,312,864(+) C/A intron_variant
rs1000077194 -- 11,306,582(+) C/T intron_variant
rs1000106219 -- 11,290,373(+) T/A/C genic_upstream_transcript_variant, intron_variant
rs1000163948 -- 11,293,513(+) T/C genic_upstream_transcript_variant, intron_variant

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for MTMR9 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTMR9 Gene - From: HGMD, DISEASES, and GeneCards

- 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

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. 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 58
  3. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PMID: 20712903) Morgan AR … Mitchell EA (BMC medical genetics 2010) 3 44 58
  4. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. (PMID: 19038970) Zou J … Majerus PW (The Journal of biological chemistry 2009) 3 22 58
  5. Association of single-nucleotide polymorphisms in MTMR9 gene with obesity. (PMID: 17855449) Yanagiya T … Hotta K (Human molecular genetics 2007) 3 44 58

Products for MTMR9 Gene

Sources for MTMR9 Gene

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