Aliases for MTMR4 Gene

Aliases for MTMR4 Gene

  • Myotubularin Related Protein 4 2 3 5
  • ZFYVE11 2 3 4
  • FYVE Domain-Containing Dual Specificity Protein Phosphatase 2 3 4
  • Zinc Finger FYVE Domain-Containing Protein 11 3 4
  • Myotubularin-Related Protein 4 3 4
  • EC 3.1.3.48 4 51
  • FYVE-DSP2 3 4
  • KIAA0647 2 4
  • Zinc Finger, FYVE Domain Containing 11 3
  • MTMR4 5

External Ids for MTMR4 Gene

Previous GeneCards Identifiers for MTMR4 Gene

  • GC17M056311
  • GC17M059048
  • GC17M056908
  • GC17M057041
  • GC17M053921
  • GC17M056566
  • GC17M051927

Summaries for MTMR4 Gene

GeneCards Summary for MTMR4 Gene

MTMR4 (Myotubularin Related Protein 4) is a Protein Coding gene. Diseases associated with MTMR4 include Mulibrey Nanism and Myopathy, Centronuclear, X-Linked. Among its related pathways are Signaling by GPCR and Inositol phosphate metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR3.

UniProtKB/Swiss-Prot Summary for MTMR4 Gene

  • Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR4 Gene

Genomics for MTMR4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTMR4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J058511 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.9 1893 8.9 SP1 HNRNPL CREB1 GATAD2A CTCF ZBTB33 YBX1 PRDM10 ZNF629 TFE3 MTMR4 TRIM37 RAD51C VEZF1 HSF5 SEPTIN4 SMG8 SRSF1 MKS1 SUPT4H1
GH17J058630 Promoter/Enhancer 2.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -113.8 -113772 2.6 ARHGAP35 SP1 GATAD2A HNRNPL ATF7 PRDM10 REST ZNF629 TFE3 ZNF512 ENSG00000212195 LOC105371842 SRSF1 MKS1 DHX40 TRIM37 RAD51C SMG8 VEZF1 SKA2
GH17J058400 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 9.1 +115.4 115383 3.9 CREB1 ZBTB33 ATF7 TEAD4 ZNF629 PRDM1 RBFOX2 PKNOX1 HDAC1 SOX6 TRIM37 RAD51C SUPT4H1 HSF5 TSPOAP1 LPO MTMR4 RNF43 RF00017-2467 piR-50443-172
GH17J058374 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.2 +137.9 137918 10.8 CREB1 GATAD2A ZBTB33 TEAD4 REST TFE3 LEF1 SOX13 IKZF1 NFKBIZ TRIM37 RAD51C RNF43 SRSF1 MKS1 SUPT4H1 HSF5 LPO EPX MSX2P1
GH17J058575 Enhancer 1 Ensembl ENCODE 11.5 -58.5 -58492 3.2 GATAD2A CTCF YBX1 TFE3 ZHX2 JUND FOXA1 ZNF143 RAD21 TRIM22 TRIM37 RAD51C ENSG00000224738 MKS1 SEPTIN4 SRSF1 MTMR4 TEX14 LOC107985048 piR-60528
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR4

Top Transcription factor binding sites by QIAGEN in the MTMR4 gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Lmo2

Genomic Locations for MTMR4 Gene

Genomic Locations for MTMR4 Gene
chr17:58,489,529-58,518,109
(GRCh38/hg38)
Size:
28,581 bases
Orientation:
Minus strand
chr17:56,566,893-56,595,266
(GRCh37/hg19)
Size:
28,374 bases
Orientation:
Minus strand

Genomic View for MTMR4 Gene

Genes around MTMR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR4 Gene

Proteins for MTMR4 Gene

  • Protein details for MTMR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYA4-MTMR4_HUMAN
    Recommended name:
    Myotubularin-related protein 4
    Protein Accession:
    Q9NYA4
    Secondary Accessions:
    • D3DTZ6
    • Q8IV27
    • Q9Y4D5

    Protein attributes for MTMR4 Gene

    Size:
    1195 amino acids
    Molecular mass:
    133353 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MTMR4 Gene

Selected DME Specific Peptides for MTMR4 Gene

Q9NYA4:
  • HCSDGWDRT
  • FMGMANIH
  • PQKLLILDARSY

Post-translational modifications for MTMR4 Gene

  • Ubiquitination at Lys202 and Lys257
  • Modification sites at PhosphoSitePlus

Domains & Families for MTMR4 Gene

Gene Families for MTMR4 Gene

Suggested Antigen Peptide Sequences for MTMR4 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger FYVE domain-containing protein 11 (MTMR4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYA4

UniProtKB/Swiss-Prot:

MTMR4_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 MTMR4: view

Function for MTMR4 Gene

Molecular function for MTMR4 Gene

UniProtKB/Swiss-Prot Function:
Dephosphorylates proteins phosphorylated on Ser, Thr, and Tyr residues and low molecular weight phosphatase substrate para-nitrophenylphosphate. Phosphorylates phosphatidylinositol 3,4,5-trisphosphate (PIP3).
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};.
GENATLAS Biochemistry:
myotubularin related protein 4 ,expressed in brain,related to KIAA0371 putative hyposine phosphatase family

Enzyme Numbers (IUBMB) for MTMR4 Gene

Phenotypes From GWAS Catalog for MTMR4 Gene

Gene Ontology (GO) - Molecular Function for MTMR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IBA 21873635
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IEA,TAS --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 20061380
genes like me logo Genes that share ontologies with MTMR4: view
genes like me logo Genes that share phenotypes with MTMR4: view

Animal Models for MTMR4 Gene

MGI Knock Outs for MTMR4:
  • Mtmr4 Mtmr4<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR4

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTMR4 Gene

Localization for MTMR4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR4 Gene

Cytoplasm. Membrane. Peripheral membrane protein. Note=Localized to perinuclear region.

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 MTMR4 gene
Compartment Confidence
endosome 5
cytosol 5
extracellular 4
cytoskeleton 2
nucleus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MTMR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005768 endosome IDA 16787938
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with MTMR4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTMR4 Gene

Pathways & Interactions for MTMR4 Gene

genes like me logo Genes that share pathways with MTMR4: view

SIGNOR curated interactions for MTMR4 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for MTMR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation IEA,TAS 9736772
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007179 transforming growth factor beta receptor signaling pathway IEA --
GO:0010506 regulation of autophagy IBA 21873635
GO:0014894 response to denervation involved in regulation of muscle adaptation IEA --
genes like me logo Genes that share ontologies with MTMR4: view

Drugs & Compounds for MTMR4 Gene

(2) Drugs for MTMR4 Gene - From: HMDB

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

(1) Additional Compounds for MTMR4 Gene - From: 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 MTMR4: view

Transcripts for MTMR4 Gene

mRNA/cDNA for MTMR4 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
10 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 MTMR4

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a ·
SP1: - - -
SP2: -
SP3: - - - - - - - - - - - - - - - - - - - -
SP4:
SP5: -
SP6:

ExUns: 19b · 19c · 19d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for MTMR4 Gene

GeneLoc Exon Structure for
MTMR4

Expression for MTMR4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTMR4 Gene

Protein differential expression in normal tissues from HIPED for MTMR4 Gene

This gene is overexpressed in Pancreas (42.7), Monocytes (11.2), and Platelet (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTMR4 Gene



Protein tissue co-expression partners for MTMR4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTMR4

SOURCE GeneReport for Unigene cluster for MTMR4 Gene:

Hs.514373

mRNA Expression by UniProt/SwissProt for MTMR4 Gene:

Q9NYA4-MTMR4_HUMAN
Tissue specificity: Expressed in brain, heart, kidney, spleen, liver, colon, testis, muscle, placenta, thyroid gland, pancreas, ovary, prostate, skin, peripheral blood, and bone marrow.

Evidence on tissue expression from TISSUES for MTMR4 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with MTMR4: 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 MTMR4 Gene

Orthologs for MTMR4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTMR4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTMR4 30 31
  • 99.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTMR4 30 31
  • 92.13 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtmr4 30
  • 89.37 (n)
Mouse
(Mus musculus)
Mammalia Mtmr4 30 17 31
  • 89.32 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTMR4 30 31
  • 87.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTMR4 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTMR4 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTMR4 30 31
  • 73.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTMR4 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtmr4 30
  • 70.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:63645 30
  • 68.95 (n)
MTMR4 31
  • 63 (a)
OneToOne
zgc63645 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG3632 31 32
  • 33 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T24A11.1a 32
  • 32 (a)
T24A11.1b 32
  • 31 (a)
Species where no ortholog for MTMR4 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)
  • 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 MTMR4 Gene

ENSEMBL:
Gene Tree for MTMR4 (if available)
TreeFam:
Gene Tree for MTMR4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR4: view image

Paralogs for MTMR4 Gene

(9) SIMAP similar genes for MTMR4 Gene using alignment to 7 proteins:

  • MTMR4_HUMAN
  • J3KT95_HUMAN
  • J3QKV8_HUMAN
  • J3QLB9_HUMAN
  • J3QR65_HUMAN
  • J3QRJ2_HUMAN
  • J3QS98_HUMAN
genes like me logo Genes that share paralogs with MTMR4: view

Variants for MTMR4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
779457 Benign: not provided 58,495,103(-) T/A SYNONYMOUS_VARIANT
779458 Benign: not provided 58,508,178(-) A/G SYNONYMOUS_VARIANT
779459 Benign: not provided 58,508,751(-) A/G SYNONYMOUS_VARIANT
rs2302189 - p.Val297Gly
rs2302190 - p.Ser280Gly

Additional dbSNP identifiers (rs#s) for MTMR4 Gene

Variation tolerance for MTMR4 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.98; 99.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTMR4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MTMR4 Gene

Disorders for MTMR4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MTMR4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
mulibrey nanism
  • muscle-liver-brain-eye nanism
myopathy, centronuclear, x-linked
  • cnmx
hydranencephaly
  • hydroanencephaly
centronuclear myopathy
  • myotubular myopathy
- elite association - COSMIC cancer census association via MalaCards
Search MTMR4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTMR4

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 MTMR4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTMR4 Gene

Publications for MTMR4 Gene

  1. Phosphoinositide cycle gene polymorphisms affect the plasma lipid profile in the Quebec Family Study. (PMID: 19329342) Dolley G … Vohl MC (Molecular genetics and metabolism 2009) 3 23 41
  2. Genome-wide association scan for childhood caries implicates novel genes. (PMID: 21940522) Shaffer JR … Marazita ML (Journal of dental research 2011) 3 41
  3. MTMR4 attenuates transforming growth factor beta (TGFbeta) signaling by dephosphorylating R-Smads in endosomes. (PMID: 20061380) Yu J … Tang H (The Journal of biological chemistry 2010) 3 23
  4. The inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4. (PMID: 19125695) Plant PJ … Batt J (The Biochemical journal 2009) 3 23
  5. FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphotidylinositol 3-phosphate. (PMID: 11302699) Zhao R … Zhao ZJ (Experimental cell research 2001) 3 4

Products for MTMR4 Gene

Sources for MTMR4 Gene