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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 Generalized Epilepsy With Febrile Seizures Plus and Keratolytic Winter Erythema. 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

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

Genomics for MTMR9 Gene

Regulatory Elements for MTMR9 Gene

Enhancers for MTMR9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G011506 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21 +227.7 227713 12.0 PKNOX1 ZNF493 ZFP64 YY1 ZNF121 GATA2 FOS ZNF202 SP3 JUNB PINX1 LOC101929290 FAM167A FAM90A2P LOC105379241 FAM66A MTMR9 ENSG00000255354 ENSG00000255518 FAM66D
GH08G011696 2.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.6 +425.0 425025 25.1 HDGF PKNOX1 FOXA2 ARNT MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 GATA4 RPS3AP34 FAM90A2P ENSG00000255354 ENSG00000255518 LOC105379241 BLK FAM66A MTMR9 FAM167A
GH08G011013 1.7 FANTOM5 Ensembl ENCODE 10.7 -268.8 -268848 3.2 PKNOX1 CREB3L1 ARNT SIN3A ZNF2 ZNF143 ZNF207 KLF13 SP3 REST MTMR9 ENSG00000269918 ENSG00000255310 XKR6 MIR598 PIR55470 GC08P010967
GH08G011612 0.8 ENCODE 21 +328.9 328875 2.1 MLX ZNF121 GATA4 MIXL1 EGR2 ZNF680 ZHX2 ZNF426 MIER2 REST FAM90A2P FAM66A MTMR9 LOC105379241 BLK FAM167A PINX1 FAM167A-AS1 FAM66D LOC101929290
GH08G011472 1.4 Ensembl ENCODE dbSUPER 10.5 +191.0 191017 5.1 PKNOX1 CBX3 SIN3A FEZF1 ZNF2 YY1 ZNF121 ELK1 ZNF366 SCRT2 FAM66A FAM66D FAM167A LOC105379241 FAM90A2P ALG1L11P MTMR9 ENSG00000255310 ENSG00000255020 PIR35143
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTMR9 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000221036 484 2201 PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for MTMR9 Gene

Chromosome:
8
Start:
11,284,416 bp from pter
End:
11,328,146 bp from pter
Size:
43,731 bases
Orientation:
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:
    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:
    • Interacts with MTMR6, MTMR7 and MTMR8.

    Alternative splice isoforms for MTMR9 Gene

    UniProtKB/Swiss-Prot:

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

No data available for DME Specific Peptides for MTMR9 Gene

Domains & Families for MTMR9 Gene

Gene Families for MTMR9 Gene

Suggested Antigen Peptide Sequences for MTMR9 Gene

Graphical View of Domain Structure for InterPro Entry

Q96QG7

UniProtKB/Swiss-Prot:

MTMR9_HUMAN :
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
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:
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 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: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

CRISPR Products

Inhibitory RNA Products

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

Cytoplasm.

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 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MTMR9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
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:0016311 dephosphorylation IEA --
GO:0050790 regulation of catalytic activity IEA --
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

Unigene Clusters for MTMR9 Gene

Myotubularin related protein 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
MTMR9
ECgene alternative splicing isoforms for
MTMR9

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, PaxDb, 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:

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(4.7)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with MTMR9: view

Primer Products

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 34 35
  • 99.03 (n)
cow
(Bos Taurus)
Mammalia MTMR9 35
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR9 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR9 34 35
  • 92.71 (n)
mouse
(Mus musculus)
Mammalia Mtmr9 34 16 35
  • 88.75 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr9 34
  • 88.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR9 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR9 34 35
  • 76.66 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR9 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr9 34
  • 75.71 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr9 34 35
  • 72.98 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003266 34
  • 52.64 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5026 34 35
  • 52.57 (n)
worm
(Caenorhabditis elegans)
Secernentea mtm-9 34 35
  • 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

ENSEMBL:
Gene Tree for MTMR9 (if available)
TreeFam:
Gene Tree for MTMR9 (if available)

Paralogs for MTMR9 Gene

Paralogs for MTMR9 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs1000057844 -- 11,308,646(+) GTTCA(C/T)AGTAG intron-variant
rs1000070622 -- 11,312,864(+) ACATT(A/C)ATCTC intron-variant
rs1000077194 -- 11,306,582(+) ATTGA(C/T)AAATA intron-variant
rs1000106219 -- 11,290,373(+) CTCCA(A/T)TTAGG intron-variant
rs1000163948 -- 11,293,513(+) TTTCA(C/T)GCTCT 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)

Relevant External Links for MTMR9 Gene

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

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
generalized epilepsy with febrile seizures plus
  • gefs+
keratolytic winter erythema
  • erythrokeratolysis hiemalis ichthyosis
- elite association - COSMIC cancer census association via MalaCards
Search MTMR9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MTMR9

Genetic Association Database (GAD)
MTMR9
Human Genome Epidemiology (HuGE) Navigator
MTMR9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR9
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 H.C. (Genomics 2001) 2 3 4 22 64
  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. (Eur. J. Hum. Genet. 2002) 2 3 22 64
  3. Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. (PMID: 20712903) Morgan A.R. … Mitchell E.A. (BMC Med. Genet. 2010) 3 46 64
  4. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. (PMID: 19038970) Zou J. … Majerus P.W. (J. Biol. Chem. 2009) 3 22 64
  5. Association of single-nucleotide polymorphisms in MTMR9 gene with obesity. (PMID: 17855449) Yanagiya T. … Hotta K. (Hum. Mol. Genet. 2007) 3 46 64

Products for MTMR9 Gene

Sources for MTMR9 Gene

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