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 fo... See more...

Aliases for MTMR12 Gene

Aliases for MTMR12 Gene

  • Myotubularin Related Protein 12 2 3 5
  • 3-PAP 2 3 4
  • Phosphatidylinositol 3 Phosphate 3-Phosphatase Adapter Subunit 3 4
  • Phosphatidylinositol-3-Phosphate Associated Protein 2 3
  • Inactive Phosphatidylinositol 3-Phosphatase 12 3 4
  • Myotubularin-Related Protein 12 3 4
  • 3-Phosphatase Adapter Protein 3 4
  • KIAA1682 2 4
  • PIP3AP 3 4
  • Phosphatidylinositol-3 Phosphate 3-Phosphatase Adaptor Subunit 3
  • 3-Phosphatase Adapter Subunit 3
  • FLJ20476 2
  • MTMR12 5
  • 3PAP 2

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 Centronuclear Myopathy and Myopathy, Centronuclear, X-Linked. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatase regulator activity. An important paralog of this gene is MTMR10.

UniProtKB/Swiss-Prot Summary for MTMR12 Gene

  • Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR12 Gene

Genomics for MTMR12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTMR12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR12

Top Transcription factor binding sites by QIAGEN in the MTMR12 gene promoter:
  • AP-1
  • AREB6
  • c-Fos
  • c-Jun
  • c-Myc
  • COMP1
  • FosB
  • HNF-1
  • HNF-1A
  • Max

Genomic Locations for MTMR12 Gene

Genomic Locations for MTMR12 Gene
chr5:32,226,994-32,312,987
(GRCh38/hg38)
Size:
85,994 bases
Orientation:
Minus strand
chr5:32,227,100-32,313,115
(GRCh37/hg19)
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:
    • Heterodimer with lipid phosphatase MTM1 (PubMed:12847286, PubMed:23818870). Heterodimer with lipid phosphatase MTMR2 (PubMed:12847286).
    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 Lys138
  • Modification sites at PhosphoSitePlus

Other Protein References for MTMR12 Gene

No data available for DME Specific Peptides for MTMR12 Gene

Domains & Families for MTMR12 Gene

Gene Families for MTMR12 Gene

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

Protein Domains for MTMR12 Gene

Suggested Antigen Peptide Sequences for MTMR12 Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-3 phosphate 3-phosphatase adapter subunit (MTMRC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9C0I1

UniProtKB/Swiss-Prot:

MTMRC_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 MTMR12: view

Function for MTMR12 Gene

Molecular function for MTMR12 Gene

UniProtKB/Swiss-Prot Function:
Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity).

Phenotypes From GWAS Catalog for MTMR12 Gene

Gene Ontology (GO) - Molecular Function for MTMR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IBA 21873635
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:
  • Mtmr12 Mtmr12<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR12

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. Sarcoplasmic reticulum. Cytoplasm, myofibril, sarcomere. Note=Localizes to punctate vesicles when associated with MTM1 (PubMed:12847286). Localizes to triads, a structure formed by a T tubule and two sarcoplasmic reticulum terminal cisterna (By similarity). In skeletal muscles, co-localizes with MTM1 in the sarcomere (By similarity). Partially localizes to the sarcoplasmic reticulum in skeletal muscles (By similarity). {ECO:0000250 UniProtKB:Q80TA6, ECO:0000269 PubMed:12847286}.

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 5
endoplasmic reticulum 3
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MTMR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 16787938
GO:0005829 cytosol TAS --
GO:0016020 membrane IBA 21873635
GO:0016529 sarcoplasmic reticulum IEA --
GO:0030017 sarcomere IEA --
genes like me logo Genes that share ontologies with MTMR12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTMR12 Gene

Pathways & Interactions for MTMR12 Gene

PathCards logo

SuperPathways for MTMR12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MTMR12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0046856 phosphatidylinositol dephosphorylation IBA 21873635
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

mRNA/cDNA for MTMR12 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR12

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

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, MaxQB, and MOPED for MTMR12 Gene



Protein tissue co-expression partners for MTMR12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTMR12

SOURCE GeneReport for Unigene cluster for MTMR12 Gene:

Hs.481836

mRNA Expression by UniProt/SwissProt for MTMR12 Gene:

Q9C0I1-MTMRC_HUMAN
Tissue specificity: Expressed in skeletal muscles (at protein level) (PubMed:23818870). Ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung (PubMed:11504939).

Evidence on tissue expression from TISSUES for MTMR12 Gene

  • Liver(4.2)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with MTMR12: 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 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 30 31
  • 99.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTMR12 30 31
  • 91.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTMR12 30 31
  • 87.57 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtmr12 30
  • 87.4 (n)
Mouse
(Mus musculus)
Mammalia Mtmr12 30 17 31
  • 87.06 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTMR12 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTMR12 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTMR12 30 31
  • 73.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTMR12 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtmr12 30
  • 66.26 (n)
Str.17489 30
Zebrafish
(Danio rerio)
Actinopterygii mtmr12 30 31
  • 59.14 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8634 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG14411 31
  • 25 (a)
OneToMany
Species where no ortholog for MTMR12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for MTMR12 Gene

ENSEMBL:
Gene Tree for MTMR12 (if available)
TreeFam:
Gene Tree for MTMR12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR12: view image

Paralogs for MTMR12 Gene

Paralogs for MTMR12 Gene

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

  • MTMRC_HUMAN
  • D6RE76_HUMAN
  • D6RHK0_HUMAN

Pseudogenes.org Pseudogenes for MTMR12 Gene

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

Variants for MTMR12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR12 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
788982 Benign: not provided 32,248,075(-) G/A SYNONYMOUS_VARIANT
791090 Benign: not provided 32,230,196(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MTMR12 Gene

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)

Additional Variant Information 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

(3) MalaCards diseases for MTMR12 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
centronuclear myopathy
  • myotubular myopathy
myopathy, centronuclear, x-linked
  • cnmx
overhydrated hereditary stomatocytosis
  • ohst
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MTMR12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 HH … Mitchell CA (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 23
  2. Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP. (PMID: 12847286) Nandurkar HH … Mitchell CA (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23
  3. Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. (PMID: 23818870) Gupta VA … Beggs AH (PLoS genetics 2013) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MTMR12 Gene

Sources for MTMR12 Gene