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Aliases for MTMR12 Gene

Aliases for MTMR12 Gene

  • Myotubularin Related Protein 12 2 3 5
  • Phosphatidylinositol 3 Phosphate 3-Phosphatase Adapter Subunit 3 4
  • Phosphatidylinositol-3-Phosphate Associated Protein 2 3
  • 3-Phosphatase Adapter Protein 3 4
  • PIP3AP 3 4
  • 3-PAP 3 4
  • Phosphatidylinositol-3 Phosphate 3-Phosphatase Adaptor Subunit 3
  • Myotubularin-Related Protein 12 3
  • 3-Phosphatase Adapter Subunit 3
  • KIAA1682 4

External Ids for MTMR12 Gene

Previous HGNC Symbols for MTMR12 Gene

  • PIP3AP

Previous GeneCards Identifiers for MTMR12 Gene

  • GC05M032263
  • GC05M032194

Summaries for MTMR12 Gene

Entrez Gene Summary for MTMR12 Gene

  • Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

GeneCards Summary for MTMR12 Gene

MTMR12 (Myotubularin Related Protein 12) is a Protein Coding gene. Diseases associated with MTMR12 include Cri-Du-Chat Syndrome and Cervix Uteri Carcinoma In Situ. GO annotations related to this gene include phosphatase activity and phosphatase regulator activity. An important paralog of this gene is MTMR10.

UniProtKB/Swiss-Prot for MTMR12 Gene

  • Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR12 Gene

Genomics for MTMR12 Gene

Regulatory Elements for MTMR12 Gene

Enhancers for MTMR12 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
GH05F031810 1.2 Ensembl ENCODE 58.9 +501.7 501661 0.9 TBP ZNF493 RFX5 ZEB1 GTF3C2 ZNF354C ZNF138 POLR3A RCOR1 FOS MTMR12 GOLPH3 PDZD2 GC05M031821 RNU6-358P ENSG00000249688
GH05F032329 1.2 Ensembl ENCODE 26.7 -17.9 -17895 3.2 ATF1 ARID4B DMAP1 ZNF143 DEK SP5 REST PPARG KAT8 MIER3 MTMR12 MIR579 ZFR GOLPH3 LOC646616 SUB1 GC05P032360
GH05F032170 1.2 ENCODE 22.7 +140.0 140002 5.2 HDGF ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 MTMR12 RPS8P8 RPL27P10 GC05P032175 GC05P032142
GH05F032390 1.6 FANTOM5 Ensembl ENCODE 15.7 -78.2 -78228 2.4 PKNOX1 ATF1 GATA2 FOS DEK MIER2 REST PPARGC1A NFIL3 SREBF1 MTMR12 SUB1 GC05M032394 GC05P032360
GH05F031530 1.1 ENCODE 20.1 +780.8 780825 3.8 PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 YY1 SLC30A9 FOS DEK MTMR12 DROSHA C5orf22 ENSG00000206682
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTMR12 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001277557 9 2401 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ZNF143

Genomic Location for MTMR12 Gene

Chromosome:
5
Start:
32,226,994 bp from pter
End:
32,313,009 bp from pter
Size:
86,016 bases
Orientation:
Minus strand

Genomic View for MTMR12 Gene

Genes around MTMR12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR12 Gene

Proteins for MTMR12 Gene

  • Protein details for MTMR12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0I1-MTMRC_HUMAN
    Recommended name:
    Myotubularin-related protein 12
    Protein Accession:
    Q9C0I1
    Secondary Accessions:
    • Q69YJ4
    • Q6PFW3
    • Q96QU2
    • Q9NX27

    Protein attributes for MTMR12 Gene

    Size:
    747 amino acids
    Molecular mass:
    86148 Da
    Quaternary structure:
    • Interacts with myotubularin MTM1 and myotubularin-related MTMR2.
    SequenceCaution:
    • Sequence=BAB21773.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MTMR12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR12 Gene

Post-translational modifications for MTMR12 Gene

  • Ubiquitination at Lys 138
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MTMR12 Gene

Domains & Families for MTMR12 Gene

Gene Families for MTMR12 Gene

Suggested Antigen Peptide Sequences for MTMR12 Gene

Graphical View of Domain Structure for InterPro Entry

Q9C0I1

UniProtKB/Swiss-Prot:

MTMRC_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 MTMR12: view

Function for MTMR12 Gene

Molecular function for MTMR12 Gene

UniProtKB/Swiss-Prot Function:
Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location.

Gene Ontology (GO) - Molecular Function for MTMR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12847286
GO:0019208 phosphatase regulator activity IEA --
genes like me logo Genes that share ontologies with MTMR12: view
genes like me logo Genes that share phenotypes with MTMR12: view

Animal Models for MTMR12 Gene

MGI Knock Outs for MTMR12:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTMR12 Gene

Localization for MTMR12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR12 Gene

Cytoplasm. Note=Localizes to punctate vesicles when associated with MTM1.

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 MTMR12 gene
Compartment Confidence
cytosol 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MTMR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MTMR12: view

Pathways & Interactions for MTMR12 Gene

SuperPathways for MTMR12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTMR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050790 regulation of catalytic activity IEA --
GO:1901998 toxin transport IEA --
genes like me logo Genes that share ontologies with MTMR12: view

No data available for Pathways by source and SIGNOR curated interactions for MTMR12 Gene

Drugs & Compounds for MTMR12 Gene

(3) Additional Compounds for MTMR12 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MTMR12: view

Transcripts for MTMR12 Gene

Unigene Clusters for MTMR12 Gene

Myotubularin related protein 12:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR12 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: - - -
SP2: - - - - -
SP3:
SP4:
SP5: - -
SP6: -

Relevant External Links for MTMR12 Gene

GeneLoc Exon Structure for
MTMR12
ECgene alternative splicing isoforms for
MTMR12

Expression for MTMR12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTMR12 Gene

Protein differential expression in normal tissues from HIPED for MTMR12 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (29.0) and Platelet (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTMR12 Gene



Protein tissue co-expression partners for MTMR12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTMR12 Gene:

MTMR12

SOURCE GeneReport for Unigene cluster for MTMR12 Gene:

Hs.481836

mRNA Expression by UniProt/SwissProt for MTMR12 Gene:

Q9C0I1-MTMRC_HUMAN
Tissue specificity: Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung.
genes like me logo Genes that share expression patterns with MTMR12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MTMR12 Gene

Orthologs for MTMR12 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTMR12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTMR12 34 35
  • 99.96 (n)
dog
(Canis familiaris)
Mammalia MTMR12 34 35
  • 91.9 (n)
cow
(Bos Taurus)
Mammalia MTMR12 34 35
  • 87.57 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr12 34
  • 87.4 (n)
mouse
(Mus musculus)
Mammalia Mtmr12 34 16 35
  • 87.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR12 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR12 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR12 34 35
  • 73.86 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR12 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr12 34
  • 66.26 (n)
Str.17489 34
zebrafish
(Danio rerio)
Actinopterygii mtmr12 34 35
  • 59.14 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8634 34
fruit fly
(Drosophila melanogaster)
Insecta CG14411 35
  • 25 (a)
OneToMany
Species where no ortholog for MTMR12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MTMR12 Gene

ENSEMBL:
Gene Tree for MTMR12 (if available)
TreeFam:
Gene Tree for MTMR12 (if available)

Paralogs for MTMR12 Gene

Paralogs for MTMR12 Gene

(1) SIMAP similar genes for MTMR12 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for MTMR12 Gene

genes like me logo Genes that share paralogs with MTMR12: view

Variants for MTMR12 Gene

Sequence variations from dbSNP and Humsavar for MTMR12 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs10036132 -- 32,304,332(+) aaaaa(A/G)aaaag intron-variant
rs10036198 -- 32,295,636(+) AAATA(C/G/T)GTCAT intron-variant
rs10039047 -- 32,253,228(+) tctgg(C/G)ctaaa intron-variant
rs10461909 -- 32,278,522(+) AGAAC(C/T)CATTT intron-variant
rs10461910 -- 32,282,992(+) GCAGA(C/G)GTGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR12 Gene

Variant ID Type Subtype PubMed ID
dgv203e55 CNV gain 17911159
dgv942n67 CNV loss 20364138
esv24020 CNV loss 19812545
esv2659915 CNV deletion 23128226
esv2759338 CNV loss 17122850
esv3565766 CNV deletion 23714750
esv3604580 CNV gain 21293372
esv3604603 CNV loss 21293372
nsv1021781 CNV gain 25217958
nsv10692 CNV loss 18304495
nsv10693 CNV gain 18304495
nsv597784 CNV gain 21841781
nsv597785 CNV gain+loss 21841781
nsv597786 CNV loss 21841781

Variation tolerance for MTMR12 Gene

Residual Variation Intolerance Score: 57.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 53.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR12 Gene

Human Gene Mutation Database (HGMD)
MTMR12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR12 Gene

Disorders for MTMR12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTMR12 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cri-du-chat syndrome
  • 5p deletion syndrome
cervix uteri carcinoma in situ
  • carcinoma in situ of cervix
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MTMR12

Genetic Association Database (GAD)
MTMR12
Human Genome Epidemiology (HuGE) Navigator
MTMR12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR12
genes like me logo Genes that share disorders with MTMR12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTMR12 Gene

Publications for MTMR12 Gene

  1. Characterization of an adapter subunit to a phosphatidylinositol (3)P 3-phosphatase: identification of a myotubularin-related protein lacking catalytic activity. (PMID: 11504939) Nandurkar H.H. … Mitchell C.A. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4 22 64
  2. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. (PMID: 12847286) Nandurkar H.H. … Mitchell C.A. (Proc. Natl. Acad. Sci. U.S.A. 2003) 3 4 22 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease. (PMID: 12495846) Wishart M.J. … Dixon J.E. (Trends Cell Biol. 2002) 2 3 64

Products for MTMR12 Gene

Sources for MTMR12 Gene

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