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Aliases for MTMR3 Gene

Aliases for MTMR3 Gene

  • Myotubularin Related Protein 3 2 3 5
  • FYVE Domain-Containing Dual Specificity Protein Phosphatase 1 3 4
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Zinc Finger FYVE Domain-Containing Protein 10 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • EC 3.1.3.48 4 61
  • FYVE-DSP1 3 4
  • ZFYVE10 3 4
  • FYVE (Fab1 YGLO23 Vsp27 EEA1 Domain) Dual-Specificity Protein Phosphatase 3
  • Zinc Finger, FYVE Domain Containing 10 3
  • Myotubularin-Related Protein 3 3
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • KIAA0371 4

External Ids for MTMR3 Gene

Previous GeneCards Identifiers for MTMR3 Gene

  • GC22P026975
  • GC22P028603
  • GC22P030279
  • GC22P013241

Summaries for MTMR3 Gene

Entrez Gene Summary for MTMR3 Gene

  • This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for MTMR3 Gene

MTMR3 (Myotubularin Related Protein 3) is a Protein Coding gene. Diseases associated with MTMR3 include Adult Syndrome and Myopathy, Centronuclear. Among its related pathways are Inositol phosphate metabolism (KEGG) and 3-phosphoinositide degradation. GO annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR4.

UniProtKB/Swiss-Prot for MTMR3 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931).

Gene Wiki entry for MTMR3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR3 Gene

Genomics for MTMR3 Gene

Regulatory Elements for MTMR3 Gene

Enhancers for MTMR3 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
GH22G030190 2 FANTOM5 Ensembl ENCODE dbSUPER 26.8 +312.1 312138 9.1 CREB3L1 ZFP64 DMAP1 FEZF1 YY1 ZNF143 SP3 NFYC TBX21 ZNF610 OSM MTMR3 HORMAD2-AS1 ASCC2 SELENOM SF3A1 SLC35E4 MTFP1 DUSP18 CCDC157
GH22G029837 1.3 ENCODE dbSUPER 24.3 -44.8 -44787 1.9 HDGF PKNOX1 ATF1 MLX CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 MTMR3 ASCC2
GH22G030201 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +324.6 324615 12.4 FOXA2 PKNOX1 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 OSM HORMAD2-AS1 MTMR3 THOC5 ASCC2 SELENOM CCDC157 MTFP1 UQCR10 SLC35E4
GH22G029992 1.3 Ensembl ENCODE 18.6 +110.9 110940 3.4 PKNOX1 FOXA2 ARID4B FEZF1 YBX1 ZNF2 ZNF143 ZNF207 FOS TSHZ1 MTMR3 ASCC2 HORMAD2-AS1 RNU5F-5P LIF THOC5 MIR6818
GH22G029906 1.2 Ensembl ENCODE 18.8 +24.8 24846 2.4 PKNOX1 ATF1 ARNT FEZF1 GATA2 FOS ZNF263 ZHX2 TSHZ1 ZNF610 MTMR3 HORMAD2-AS1 ASCC2 RNU5F-5P RNU6-331P GC22M029900
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTMR3 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145133 545 1801 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF121

Genomic Location for MTMR3 Gene

Chromosome:
22
Start:
29,883,155 bp from pter
End:
30,030,868 bp from pter
Size:
147,714 bases
Orientation:
Plus strand

Genomic View for MTMR3 Gene

Genes around MTMR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR3 Gene

Proteins for MTMR3 Gene

  • Protein details for MTMR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13615-MTMR3_HUMAN
    Recommended name:
    Myotubularin-related protein 3
    Protein Accession:
    Q13615
    Secondary Accessions:
    • A5PL26
    • A7MD32
    • Q9NYN5
    • Q9NYN6
    • Q9UDX6
    • Q9UEG3

    Protein attributes for MTMR3 Gene

    Size:
    1198 amino acids
    Molecular mass:
    133619 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA20826.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for MTMR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR3 Gene

Selected DME Specific Peptides for MTMR3 Gene

Q13615:
  • GHKFADRCGH
  • HCSDGWDRT
  • YRTIEGF
  • FMGMANIH
  • PDPGNWLSALESTKWL
  • PQKLLILDARSY
  • GAVIARC

Post-translational modifications for MTMR3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MTMR3 Gene

Suggested Antigen Peptide Sequences for MTMR3 Gene

Graphical View of Domain Structure for InterPro Entry

Q13615

UniProtKB/Swiss-Prot:

MTMR3_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 MTMR3: view

Function for MTMR3 Gene

Molecular function for MTMR3 Gene

GENATLAS Biochemistry:
myotubularin related protein 3,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 3-phosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot Function:
Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931).

Enzyme Numbers (IUBMB) for MTMR3 Gene

Gene Ontology (GO) - Molecular Function for MTMR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity TAS --
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity TAS --
GO:0004725 protein tyrosine phosphatase activity IDA 10733931
GO:0005515 protein binding IPI 26787466
genes like me logo Genes that share ontologies with MTMR3: view
genes like me logo Genes that share phenotypes with MTMR3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for MTMR3

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTMR3 Gene

Localization for MTMR3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR3 Gene

Cytoplasm. Membrane; Peripheral membrane protein.

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 MTMR3 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
endosome 1

Gene Ontology (GO) - Cellular Components for MTMR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 10733931
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IDA 10733931
GO:0019898 extrinsic component of membrane IDA 11676921
genes like me logo Genes that share ontologies with MTMR3: view

Pathways & Interactions for MTMR3 Gene

genes like me logo Genes that share pathways with MTMR3: view

Gene Ontology (GO) - Biological Process for MTMR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IDA 10733931
GO:0006629 lipid metabolic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016236 macroautophagy TAS --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with MTMR3: view

No data available for SIGNOR curated interactions for MTMR3 Gene

Drugs & Compounds for MTMR3 Gene

(3) Drugs for MTMR3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(2) Additional Compounds for MTMR3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with MTMR3: view

Transcripts for MTMR3 Gene

Unigene Clusters for MTMR3 Gene

Myotubularin related protein 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8: - -
SP9:

ExUns: 17a · 17b · 17c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for MTMR3 Gene

GeneLoc Exon Structure for
MTMR3
ECgene alternative splicing isoforms for
MTMR3

Expression for MTMR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTMR3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTMR3 Gene

This gene is overexpressed in Whole Blood (x7.2).

Protein differential expression in normal tissues from HIPED for MTMR3 Gene

This gene is overexpressed in Blymphocyte (18.8), Heart (12.4), and Testis (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTMR3 Gene



Protein tissue co-expression partners for MTMR3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTMR3 Gene:

MTMR3

SOURCE GeneReport for Unigene cluster for MTMR3 Gene:

Hs.474536

Evidence on tissue expression from TISSUES for MTMR3 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Lung(2.7)
genes like me logo Genes that share expression patterns with MTMR3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTMR3 Gene

Orthologs for MTMR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTMR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTMR3 34 35
  • 99.81 (n)
dog
(Canis familiaris)
Mammalia MTMR3 34 35
  • 91.23 (n)
cow
(Bos Taurus)
Mammalia MTMR3 34 35
  • 88.06 (n)
mouse
(Mus musculus)
Mammalia Mtmr3 34 16 35
  • 86.86 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr3 34
  • 86.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR3 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR3 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR3 34 35
  • 76.01 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr3 34
  • 65.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia Mtmr3 34
zebrafish
(Danio rerio)
Actinopterygii MTMR3 (3 of 3) 35
  • 82 (a)
OneToMany
mtmr3 34 35
  • 70.11 (n)
MTMR3 (2 of 3) 35
  • 57 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta CG3632 36 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea T24A11.1a 36
  • 31 (a)
T24A11.1b 36
  • 31 (a)
Species where no ortholog for MTMR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 MTMR3 Gene

ENSEMBL:
Gene Tree for MTMR3 (if available)
TreeFam:
Gene Tree for MTMR3 (if available)

Paralogs for MTMR3 Gene

Paralogs for MTMR3 Gene

(10) SIMAP similar genes for MTMR3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MTMR3: view

Variants for MTMR3 Gene

Sequence variations from dbSNP and Humsavar for MTMR3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
VAR_035656 A breast cancer sample
rs1000014903 -- 30,025,903(+) GAGCG(C/T)GGAAC intron-variant, utr-variant-3-prime
rs1000017635 -- 29,890,985(+) ATAGC(C/T)GCTGT intron-variant
rs1000019111 -- 30,005,441(+) CACTG(C/G)TGGGA intron-variant, upstream-variant-2KB
rs1000024493 -- 29,965,453(+) GCCAA(A/G)GCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR3 Gene

Variant ID Type Subtype PubMed ID
dgv760n67 CNV gain 20364138
esv2667111 CNV deletion 23128226
esv26961 CNV loss 19812545
esv2724133 CNV deletion 23290073
esv27258 CNV gain 19812545
esv2763694 CNV loss 21179565
esv3307560 CNV mobile element insertion 20981092
esv3331654 CNV insertion 20981092
esv3441917 CNV insertion 20981092
esv3568352 CNV loss 25503493
esv3568353 CNV loss 25503493
esv3568355 CNV loss 25503493
esv3647549 CNV loss 21293372
esv3647550 CNV loss 21293372
esv3647551 CNV loss 21293372
nsv1058511 CNV loss 25217958
nsv1064489 CNV loss 25217958
nsv1109464 CNV deletion 24896259
nsv1110864 OTHER inversion 24896259
nsv3591 CNV deletion 18451855
nsv523696 CNV gain 19592680
nsv588883 CNV loss 21841781
nsv829163 CNV loss 20364138

Variation tolerance for MTMR3 Gene

Residual Variation Intolerance Score: 4.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.84; 58.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR3 Gene

Human Gene Mutation Database (HGMD)
MTMR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR3 Gene

Disorders for MTMR3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MTMR3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
adult syndrome
  • acro-dermato-ungual-lacrimal-tooth syndrome
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search MTMR3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MTMR3

Genetic Association Database (GAD)
MTMR3
Human Genome Epidemiology (HuGE) Navigator
MTMR3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR3
genes like me logo Genes that share disorders with MTMR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTMR3 Gene

Publications for MTMR3 Gene

  1. FYVE-DSP1, a dual-specificity protein phosphatase containing an FYVE domain. (PMID: 10733931) Zhao R. … Zhao Z.J. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
  2. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J. … Mandel J.-L. (Hum. Mol. Genet. 1998) 2 3 4 64
  3. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PMID: 8640223) Laporte J. … Dahl N. (Nat. Genet. 1996) 2 3 4 64
  4. A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. (PMID: 22197929) Yu X.Q. … Liu J.J. (Nat. Genet. 2012) 3 46 64
  5. A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. (PMID: 21725308) Hu Z. … Shen H. (Nat. Genet. 2011) 3 46 64

Products for MTMR3 Gene

Sources for MTMR3 Gene

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