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 throug... See more...

Aliases for MTMR3 Gene

Aliases for MTMR3 Gene

  • Myotubularin Related Protein 3 2 3 5
  • FYVE-DSP1 2 3 4
  • ZFYVE10 2 3 4
  • 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
  • Myotubularin-Related Protein 3 3 4
  • EC 3.1.3.48 4 51
  • KIAA0371 2 4
  • FYVE (Fab1 YGLO23 Vsp27 EEA1 Domain) Dual-Specificity Protein Phosphatase 3
  • Zinc Finger, FYVE Domain Containing 10 3
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • MTMR3 5

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 Myopathy, Centronuclear, X-Linked and Charcot-Marie-Tooth Disease, Type 4B3. Among its related pathways are Inositol phosphate metabolism (KEGG) and PI Metabolism. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for MTMR3 Gene

Genomics for MTMR3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTMR3 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 MTMR3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR3

Top Transcription factor binding sites by QIAGEN in the MTMR3 gene promoter:
  • AML1a
  • Cdc5
  • IRF-1
  • MAZR
  • Pax-5
  • Pbx1a
  • SREBP-1a
  • SREBP-1b

Genomic Locations for MTMR3 Gene

Genomic Locations for MTMR3 Gene
chr22:29,883,169-30,030,868
(GRCh38/hg38)
Size:
147,700 bases
Orientation:
Plus strand
chr22:30,279,144-30,426,857
(GRCh37/hg19)
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

Other Protein References for MTMR3 Gene

Domains & Families for MTMR3 Gene

Gene Families for MTMR3 Gene

Protein Domains for MTMR3 Gene

Suggested Antigen Peptide Sequences for MTMR3 Gene

GenScript: Design optimal peptide antigens:
  • Myotubularin related protein 3 (A7E2W2_HUMAN)
  • Zinc finger FYVE domain-containing protein 10 (MTMR3_HUMAN)

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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate; Xref=Rhea:RHEA:12316, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088; EC=3.1.3.64; Evidence={ECO:0000269|PubMed:11676921};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:39019, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57795, ChEBI:CHEBI:57923; EC=3.1.3.95; Evidence={ECO:0000269|PubMed:11676921};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence={ECO:0000255|PROSITE-ProRule:PRU10044, ECO:0000269|PubMed:10733931};.
GENATLAS Biochemistry:
myotubularin related protein 3,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas

Enzyme Numbers (IUBMB) for MTMR3 Gene

Phenotypes From GWAS Catalog 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 IEA,IDA 10900271
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IDA 10733931
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 Models for MTMR3 Gene

MGI Knock Outs for MTMR3:
  • Mtmr3 Mtmr3<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for MTMR3

CRISPR Products

miRNA for MTMR3 Gene

miRTarBase miRNAs that target MTMR3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR3

No data available for Human Phenotype Ontology , 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 2
lysosome 2
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MTMR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 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

SIGNOR curated interactions for MTMR3 Gene

Inactivates:

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:0010506 regulation of autophagy IBA 21873635
GO:0016236 macroautophagy TAS --
genes like me logo Genes that share ontologies with MTMR3: view

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: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with MTMR3: view

Transcripts for MTMR3 Gene

mRNA/cDNA for MTMR3 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 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 MTMR3

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

Expression for MTMR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MTMR3 Gene



Protein tissue co-expression partners for MTMR3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.3)
  • Lung(2.7)
  • Muscle(2.2)
  • Skin(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with MTMR3: view

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 30 31
  • 99.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTMR3 30 31
  • 91.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTMR3 30 31
  • 88.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mtmr3 30 17 31
  • 86.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtmr3 30
  • 86.68 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MTMR3 31
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTMR3 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTMR3 30 31
  • 76.01 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtmr3 30
  • 65.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia Mtmr3 30
Zebrafish
(Danio rerio)
Actinopterygii MTMR3 (3 of 3) 31
  • 82 (a)
OneToMany
mtmr3 30 31
  • 70.11 (n)
OneToMany
MTMR3 (2 of 3) 31
  • 57 (a)
OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG3632 31 32
  • 32 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T24A11.1a 32
  • 31 (a)
T24A11.1b 32
  • 31 (a)
Species where no ortholog for MTMR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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)

Evolution for MTMR3 Gene

ENSEMBL:
Gene Tree for MTMR3 (if available)
TreeFam:
Gene Tree for MTMR3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR3: view image

Paralogs for MTMR3 Gene

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

  • MTMR3_HUMAN
  • A7E2W2_HUMAN
  • C9JLU3_HUMAN
  • G5E953_HUMAN
genes like me logo Genes that share paralogs with MTMR3: view

Variants for MTMR3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR3 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
VAR_035656 A breast cancer sample p.Val221Leu

Additional dbSNP identifiers (rs#s) for MTMR3 Gene

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)

Additional Variant Information for MTMR3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MTMR3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MTMR3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search MTMR3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTMR3

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 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 ZJ (Biochemical and biophysical research communications 2000) 3 4 23
  2. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J … Mandel JL (Human molecular genetics 1998) 2 3 4
  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 (Nature genetics 1996) 2 3 4
  4. A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. (PMID: 22197929) Yu XQ … Liu JJ (Nature genetics 2011) 3 41
  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 (Nature genetics 2011) 3 41

Products for MTMR3 Gene

Sources for MTMR3 Gene