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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 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
GH08F011506 1.6 FANTOM5 Ensembl ENCODE 12.2 +227.7 227713 12.0 PKNOX1 ZFP64 ZNF493 YY1 ZNF121 FOS ZNF202 SP3 JUNB REST LOC101929290 PINX1 FAM167A LOC105379241 FAM66A MTMR9 FAM90A2P ENSG00000255354 ENSG00000255518 FAM66D
GH08F011283 1.1 ENCODE 10 +0.3 327 2.1 PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000255020 FAM90A2P MTMR9 ENSG00000272505 ENSG00000280273
GH08F011612 0.8 ENCODE 12.2 +328.9 328875 2.1 DRAP1 MLX ZNF644 ZNF101 ZNF121 ZFHX2 POLR2A NR2F6 MIXL1 EGR2 LOC105379241 FAM66A MTMR9 FAM90A2P BLK FAM167A FAM167A-AS1 FAM66D ENPP7P12 GC08M011574
GH08F011292 0.6 ENCODE 8.8 +8.2 8184 0.6 ZNF316 PKNOX1 ZNF211 PBX2 POU5F1 ZBTB17 ZNF83 MTMR9 ENSG00000280273 PIR36234
GH08F011453 1.6 FANTOM5 Ensembl ENCODE 2.2 +172.3 172285 5.8 HDGF PKNOX1 SIN3A ZNF2 GLIS2 FOS KLF7 SP3 JUNB REST FAM167A BLK LOC105379241 ENSG00000255354 ENSG00000255518 ENSG00000255310 SLC35G5 XKR6 MTMR9 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
ENSR00001438900 585 2800 PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 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

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

Suggested Antigen Peptide Sequences for MTMR9 Gene

Graphical View of Domain Structure for InterPro Entry

Q96QG7

UniProtKB/Swiss-Prot:

MTMR9_HUMAN :
  • Contains 1 myotubularin phosphatase domain.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • Contains 1 myotubularin phosphatase domain.
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:0005515 protein binding IPI 12890864
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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 --
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: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

Transcripts for MTMR9 Gene

Unigene Clusters for MTMR9 Gene

Myotubularin related protein 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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.
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 and mRNA differential expression in normal tissues 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
rs10091637 -- 11,286,805(+) GAGCC(C/T)TTCTT intron-variant
rs10095689 -- 11,293,948(+) gcttt(A/G)tagta intron-variant
rs10099569 -- 11,303,767(+) GAACT(C/G)AAGCA intron-variant
rs10104728 -- 11,313,791(+) CAAAG(A/G)TCACT intron-variant
rs10108740 -- 11,293,540(+) aagag(C/G)agacg intron-variant

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

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

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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