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Aliases for MTMR6 Gene

Aliases for MTMR6 Gene

  • Myotubularin Related Protein 6 2 3 5
  • EC 3.1.3.48 61
  • EC 3.1.3.- 4
  • EC 3.1.3 61

External Ids for MTMR6 Gene

Previous GeneCards Identifiers for MTMR6 Gene

  • GC13M023801
  • GC13M019801
  • GC13M024732
  • GC13M023619
  • GC13M024719
  • GC13M025820
  • GC13M006634

Summaries for MTMR6 Gene

GeneCards Summary for MTMR6 Gene

MTMR6 (Myotubularin Related Protein 6) is a Protein Coding gene. Diseases associated with MTMR6 include Myopathy, Centronuclear. Among its related pathways are Inositol phosphate metabolism (KEGG) and PI Metabolism. GO annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot for MTMR6 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells.

Gene Wiki entry for MTMR6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR6 Gene

Genomics for MTMR6 Gene

Regulatory Elements for MTMR6 Gene

Enhancers for MTMR6 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
GH13G025285 1.3 ENCODE dbSUPER 30.4 +1.1 1054 2.2 HDGF PKNOX1 CREB3L1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 MTMR6 NUP58 LOC105370121
GH13G025316 0.9 ENCODE dbSUPER 32.3 -30.4 -30404 3.7 ZNF362 JUN ATF2 FOSL1 ZNF366 ATF3 FOS PRDM1 MTMR6 NUP58 ATP8A2 ENSG00000260509 GC13P025348
GH13G025281 1.1 Ensembl ENCODE dbSUPER 15.4 +6.4 6393 0.4 MAFG NFIC ZNF366 IKZF1 ZNF512 EED NFE2 IKZF2 PRDM1 EMSY MTMR6 LOC105370121
GH13G025266 0.6 dbSUPER 27.1 +20.2 20228 3.1 CTCF ZNF654 NFIB SMC3 CEBPB ZFX RAD21 MTMR6 NUP58 LOC105370121
GH13G025300 1.3 ENCODE dbSUPER 6.2 -13.9 -13864 2.6 MLX ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 NUP58 MTMR6 ENSG00000260509 GC13P025348
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MTMR6 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000060137 909 1801 HDGF PKNOX1 MLX AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for MTMR6 Gene

Chromosome:
13
Start:
25,246,201 bp from pter
End:
25,288,009 bp from pter
Size:
41,809 bases
Orientation:
Minus strand

Genomic View for MTMR6 Gene

Genes around MTMR6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR6 Gene

Proteins for MTMR6 Gene

  • Protein details for MTMR6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y217-MTMR6_HUMAN
    Recommended name:
    Myotubularin-related protein 6
    Protein Accession:
    Q9Y217
    Secondary Accessions:
    • B2RBB5
    • B3KSB4
    • Q5JRG6
    • Q86TB7
    • Q86YH4
    • Q96P80

    Protein attributes for MTMR6 Gene

    Size:
    621 amino acids
    Molecular mass:
    71968 Da
    Quaternary structure:
    • Interacts with ALKBH4, KCNN4, MTMR7, MTMR8 and MTMR9.

    Three dimensional structures from OCA and Proteopedia for MTMR6 Gene

    Alternative splice isoforms for MTMR6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MTMR6 Gene

Selected DME Specific Peptides for MTMR6 Gene

Q9Y217:
  • VGSSKFRS
  • SCQFGNFL
  • LYAFSYNPK
  • HCSDGWDRT
  • WISFGHKF
  • SGWLRHIKA
  • GIENIHVMR
  • KGFMVLIEK
  • LDSYYRT

Post-translational modifications for MTMR6 Gene

  • Ubiquitination at Lys135, posLast=179179, and posLast=253253
  • Modification sites at PhosphoSitePlus

Other Protein References for MTMR6 Gene

Domains & Families for MTMR6 Gene

Gene Families for MTMR6 Gene

Suggested Antigen Peptide Sequences for MTMR6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y217

UniProtKB/Swiss-Prot:

MTMR6_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 MTMR6: view

Function for MTMR6 Gene

Molecular function for MTMR6 Gene

GENATLAS Biochemistry:
myotubularin related protein 6,ubiquitously expressed
UniProtKB/Swiss-Prot Function:
Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells.

Enzyme Numbers (IUBMB) for MTMR6 Gene

Gene Ontology (GO) - Molecular Function for MTMR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity TAS --
GO:0004722 protein serine/threonine phosphatase activity NAS 9736772
GO:0004725 protein tyrosine phosphatase activity NAS 9736772
GO:0005515 protein binding IPI 21516116
GO:0015269 calcium-activated potassium channel activity IDA 15831468
genes like me logo Genes that share ontologies with MTMR6: view
genes like me logo Genes that share phenotypes with MTMR6: view

Animal Model Products

CRISPR Products

miRNA for MTMR6 Gene

miRTarBase miRNAs that target MTMR6

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MTMR6 Gene

Localization for MTMR6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR6 Gene

Nucleus envelope.

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 MTMR6 gene
Compartment Confidence
cytosol 5
nucleus 4

Gene Ontology (GO) - Cellular Components for MTMR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MTMR6: view

Pathways & Interactions for MTMR6 Gene

genes like me logo Genes that share pathways with MTMR6: view

Gene Ontology (GO) - Biological Process for MTMR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation NAS 9736772
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016311 dephosphorylation IEA --
GO:0035335 peptidyl-tyrosine dephosphorylation IEA --
GO:0046856 phosphatidylinositol dephosphorylation IEA --
genes like me logo Genes that share ontologies with MTMR6: view

No data available for SIGNOR curated interactions for MTMR6 Gene

Drugs & Compounds for MTMR6 Gene

(3) Drugs for MTMR6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
NAD Pharma Full agonist, Agonist 0

(7) Additional Compounds for MTMR6 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 2-phosphate
  • beta-D-Fructofuranose 2-phosphate
  • beta-D-Fructose 2-phosphate
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
53188-23-1
N-Acetyl-D-mannosamine 6-phosphate
  • ManNAc-6-P
  • N-Acetyl-D-mannosamine 6-phosphate
  • N-Acetyl-D-mannosamine-6-P
  • N-Acetyl-D-mannosamine-6-phosphate
  • N-Acetylmannosamine-6-P
873185-52-5
N-Acetylmannosamine
  • 2-Acetamido-2-deoxy-D-mannopyranose
  • 2-Acetamido-2-deoxy-D-mannose
  • ManNAc
  • N-Acetyl-D-mannosamine
  • N-Acetylmannosamine
3615-17-6
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
53-59-8
genes like me logo Genes that share compounds with MTMR6: view

Transcripts for MTMR6 Gene

Unigene Clusters for MTMR6 Gene

Myotubularin related protein 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: -
SP2: -
SP3:

Relevant External Links for MTMR6 Gene

GeneLoc Exon Structure for
MTMR6
ECgene alternative splicing isoforms for
MTMR6

Expression for MTMR6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MTMR6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTMR6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MTMR6 Gene



Protein tissue co-expression partners for MTMR6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MTMR6 Gene:

MTMR6

SOURCE GeneReport for Unigene cluster for MTMR6 Gene:

Hs.643702

mRNA Expression by UniProt/SwissProt for MTMR6 Gene:

Q9Y217-MTMR6_HUMAN
Tissue specificity: Expressed in CD4+ T-cells.

Evidence on tissue expression from TISSUES for MTMR6 Gene

  • Nervous system(4.5)
  • Liver(4.3)
  • Eye(4.2)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with MTMR6: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTMR6 Gene

Orthologs for MTMR6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MTMR6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MTMR6 34 35
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia MTMR6 34 35
  • 93.18 (n)
cow
(Bos Taurus)
Mammalia MTMR6 34 35
  • 87.28 (n)
rat
(Rattus norvegicus)
Mammalia Mtmr6 34
  • 86.83 (n)
mouse
(Mus musculus)
Mammalia Mtmr6 34 16 35
  • 86.28 (n)
oppossum
(Monodelphis domestica)
Mammalia MTMR6 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR6 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves MTMR6 34 35
  • 78.87 (n)
lizard
(Anolis carolinensis)
Reptilia MTMR6 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr6 34
  • 71.68 (n)
zebrafish
(Danio rerio)
Actinopterygii mtmr6 34 35
  • 65.46 (n)
wufi04a11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1836 34
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH04637 36
  • 53 (a)
CG3530 35
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T24A11.1a 36
  • 36 (a)
T24A11.1b 36
  • 35 (a)
mtm-6 35
  • 32 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05853g 34
  • 50.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 34 35
  • 49.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR152C 34
  • 48.54 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC19A8.03 34
  • 48.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU11185 34
  • 45.78 (n)
Species where no ortholog for MTMR6 was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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 MTMR6 Gene

ENSEMBL:
Gene Tree for MTMR6 (if available)
TreeFam:
Gene Tree for MTMR6 (if available)

Paralogs for MTMR6 Gene

Paralogs for MTMR6 Gene

(9) SIMAP similar genes for MTMR6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MTMR6: view

Variants for MTMR6 Gene

Sequence variations from dbSNP and Humsavar for MTMR6 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000031858 -- 25,285,213(+) ACAAC(G/T)CTACA intron-variant
rs1000040728 -- 25,279,505(+) CTTTA(A/T)TTGCC intron-variant
rs1000053336 -- 25,287,257(+) AGGAG(A/G)CGTCA utr-variant-5-prime
rs1000343088 -- 25,255,179(+) TGATT(C/T)TGTCT intron-variant
rs1000430710 -- 25,261,881(+) AAAGC(C/T)AAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR6 Gene

Variant ID Type Subtype PubMed ID
esv2629441 CNV deletion 19546169
esv2747161 CNV deletion 23290073
esv3582237 CNV gain 25503493
nsv435952 OTHER inversion 17901297
nsv526439 CNV loss 19592680
nsv820184 CNV loss 19587683
nsv952528 CNV duplication 24416366

Variation tolerance for MTMR6 Gene

Residual Variation Intolerance Score: 38.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.59; 94.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR6 Gene

Disorders for MTMR6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MTMR6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myopathy, centronuclear
  • centronuclear myopathy, autosomal, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search MTMR6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MTMR6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MTMR6
genes like me logo Genes that share disorders with MTMR6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTMR6 Gene

Publications for MTMR6 Gene

  1. Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells. (PMID: 16847315) Srivastava S. … Skolnik E.Y. (Mol. Cell. Biol. 2006) 3 4 22 64
  2. The phosphatidylinositol 3-phosphate phosphatase myotubularin-related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1. (PMID: 15831468) Srivastava S. … Skolnik E.Y. (Mol. Cell. Biol. 2005) 3 4 22 64
  3. 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
  4. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. (PMID: 19038970) Zou J. … Majerus P.W. (J. Biol. Chem. 2009) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for MTMR6 Gene

Sources for MTMR6 Gene

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