Aliases for MTMR6 Gene

Aliases for MTMR6 Gene

  • Myotubularin Related Protein 6 2 3 5
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • Myotubularin-Related Protein 6 3 4
  • EC 3.1.3.48 50
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • EC 3.1.3 50
  • MTMR6 5

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, X-Linked and Rh Deficiency Syndrome. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (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 Summary for MTMR6 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup (PubMed:19038970, PubMed:22647598). Dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,5-bisphosphate (PubMed:19038970, PubMed:22647598) (Probable). Binds with high affinity to phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) but also to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P), phosphatidic acid and phosphatidylserine (PubMed:19038970). Negatively regulates ER-Golgi protein transport (By similarity). Probably in association with MTMR9, plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4(+) T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3-phosphate (PubMed:15831468). Negatively regulates proliferation of reactivated CD4(+) T-cells (PubMed:16847315). In complex with MTMR9, negatively regulates DNA damage-induced apoptosis (PubMed:19038970, PubMed:22647598). The formation of the MTMR6-MTMR9 complex stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970).

Gene Wiki entry for MTMR6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR6 Gene

Genomics for MTMR6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTMR6 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
GH13J025285 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 280.4 +0.6 611 2.6 BCLAF1 ZNF207 MYC ZNF600 POLR2A ZIC2 YY1 REST CTCF ZNF592 MTMR6 hsa-miR-5095-110 lnc-NUP58-4 CENPJ NUP58 MN309626 AMER2
GH13J025316 Enhancer 0.8 Ensembl ENCODE dbSUPER 32.3 -31.1 -31063 4 ZNF362 ZNF366 ATF3 FOS ATF2 CEBPB PRDM1 MTMR6 NUP58 ATP8A2 piR-50437-131 HSALNG0095841
GH13J025300 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.2 -14.3 -14320 2.7 BCLAF1 SP1 MYC ZNF600 POLR2A CEBPA CHD4 YY1 CEBPB KLF11 NUP58 ENSG00000260509 lnc-ATP8A2-2 lnc-NUP58-1 CDK8 MTMR6 ATP8A2
GH13J025248 Enhancer 0.6 Ensembl dbSUPER 15.7 +39.3 39311 3.2 CTCF SMC3 SPI1 RAD21 RUNX3 MTMR6 NUP58 HSALNG0095836 LOC105370121 AMER2
GH13J025251 Enhancer 0.6 Ensembl dbSUPER 15.3 +34.9 34911 1.6 RXRA SPI1 HNF4A SP1 REST MTMR6 HSALNG0095836 LOC105370121 AMER2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR6

Top Transcription factor binding sites by QIAGEN in the MTMR6 gene promoter:
  • ATF
  • En-1
  • Nkx2-5
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • POU6F1 (c2)
  • STAT1

Genomic Locations for MTMR6 Gene

Latest Assembly
chr13:25,246,222-25,287,512
(GRCh38/hg38)
Size:
41,291 bases
Orientation:
Minus strand

Previous Assembly
chr13:25,820,360-25,861,626
(GRCh37/hg19 by Entrez Gene)
Size:
41,267 bases
Orientation:
Minus strand

chr13:25,802,307-25,862,147
(GRCh37/hg19 by Ensembl)
Size:
59,841 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:
    • Homodimer (PubMed:19038970). Heterodimer (via C-terminus) with MTMR9 (via C-terminus) (PubMed:12890864, PubMed:16787938, PubMed:19038970, PubMed:23188820). Interacts with ALKBH4 (PubMed:23145062). Interacts with KCNN4 (PubMed:15831468). Interacts (via GRAM domain) with RAB1B (in GDP-bound form); the interaction regulates MTMR6 recruitment to the endoplasmic reticulum-Golgi intermediate compartment (PubMed:23188820).

    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, Lys179, and Lys253
  • Modification sites at PhosphoSitePlus

Domains & Families for MTMR6 Gene

Gene Families for MTMR6 Gene

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

Suggested Antigen Peptide Sequences for MTMR6 Gene

GenScript: Design optimal peptide antigens:
  • Myotubularin-related protein 6 (MTMR6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y217

UniProtKB/Swiss-Prot:

MTMR6_HUMAN :
  • The GRAM domain is required for cell membrane localization.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • The GRAM domain is required for cell membrane localization.
  • The C-terminus domain (aa 502-621) mediates interaction with MTMR9.
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

UniProtKB/Swiss-Prot Function:
Phosphatase that acts on lipids with a phosphoinositol headgroup (PubMed:19038970, PubMed:22647598). Dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,5-bisphosphate (PubMed:19038970, PubMed:22647598) (Probable). Binds with high affinity to phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) but also to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P), phosphatidic acid and phosphatidylserine (PubMed:19038970). Negatively regulates ER-Golgi protein transport (By similarity). Probably in association with MTMR9, plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4(+) T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3-phosphate (PubMed:15831468). Negatively regulates proliferation of reactivated CD4(+) T-cells (PubMed:16847315). In complex with MTMR9, negatively regulates DNA damage-induced apoptosis (PubMed:19038970, PubMed:22647598). The formation of the MTMR6-MTMR9 complex stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970).
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:22647598};.
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:19038970, ECO:0000269|PubMed:22647598, ECO:0000305|PubMed:24591580};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:45632, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:78911, ChEBI:CHEBI:85342; Evidence={ECO:0000269|PubMed:12646134};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1-D-myo-inositol-3-phosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate; Xref=Rhea:RHEA:42328, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:65221, ChEBI:CHEBI:78934; Evidence={ECO:0000269|PubMed:12646134};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7. {ECO:0000269|PubMed:19038970};
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by phosphatidylserine and/or phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P) (PubMed:19038970). Interaction with MTMR9 increases catalytic activity towards phosphatidylinositol 3,5-bisphosphate (PubMed:19038970).
GENATLAS Biochemistry:
myotubularin related protein 6,ubiquitously expressed

Enzyme Numbers (IUBMB) for MTMR6 Gene

Phenotypes From GWAS Catalog 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 IBA,IDA 22647598
GO:0004722 protein serine/threonine phosphatase activity NAS 9736772
GO:0004725 protein tyrosine phosphatase activity NAS 9736772
GO:0005515 protein binding IPI 16787938
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MTMR6: view
genes like me logo Genes that share phenotypes with MTMR6: view

miRNA for MTMR6 Gene

miRTarBase miRNAs that target MTMR6

Inhibitory RNAs for research

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

Cytoplasm. Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Cell projection, ruffle membrane. Peripheral membrane protein. Cytoplasmic side. Cytoplasm, perinuclear region. Note=Localizes to ruffles during EGF-induced macropinocytosis (By similarity). Colocalizes with MTMR9 to the perinuclear region (PubMed:19038970). Partially localizes to the endoplasmic reticulum (PubMed:19038970). Co-localizes with RAB1B to the endoplasmic reticulum-Golgi intermediate compartment and to the peri-Golgi region (By similarity). {ECO:0000250 UniProtKB:A0A0G2JXT6, ECO:0000250 UniProtKB:Q8VE11, ECO:0000269 PubMed:19038970}.

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
nucleus 5
cytosol 5
plasma membrane 4
endoplasmic reticulum 3
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MTMR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IBA,IDA 16787938
GO:0005737 cytoplasm IEA,IDA 16787938
GO:0005783 endoplasmic reticulum IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MTMR6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MTMR6 Gene

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:0006629 lipid metabolic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0006897 endocytosis IEA --
GO:0016311 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

(5) Drugs for MTMR6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
NAD Experimental Pharma 0
NADP Experimental Pharma 0
Phosphate Experimental Pharma 0
N-acetylmannosamine Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 2-phosphate
  • 2-O-Phosphono-beta-D-fructofuranose
  • 2-Phospho-beta-D-fructofuranose
  • beta-D-Fructofuranose 2-phosphate
  • 2-O-Phosphono-b-D-fructofuranose
  • 2-O-Phosphono-β-D-fructofuranose
D-Fructose
  • beta-D-Arabino-hexulose
  • beta-D-Fructose
  • beta-Fruit sugar
  • beta-Levulose
  • FRUCTOSE
53188-23-1
N-Acetyl-D-mannosamine 6-phosphate
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-Acetamido-2-deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-Acetamido-2-deoxy-6-O-phosphono-alpha-D-mannose
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-a-D-mannopyranose
  • 2-(Acetylamino)-2-deoxy-6-O-phosphono-α-D-mannopyranose
873185-52-5
genes like me logo Genes that share compounds with MTMR6: view

Transcripts for MTMR6 Gene

mRNA/cDNA for MTMR6 Gene

10 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR6

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

Expression for MTMR6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MTMR6 Gene



Protein tissue co-expression partners for MTMR6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Muscle(4.4)
  • Liver(4.3)
  • Eye(4.2)
genes like me logo Genes that share expression patterns with MTMR6: view

Primer products for research

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 29 30
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTMR6 29 30
  • 93.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTMR6 29 30
  • 87.28 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtmr6 29
  • 86.83 (n)
Mouse
(Mus musculus)
Mammalia Mtmr6 29 16 30
  • 86.28 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTMR6 30
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTMR6 30
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTMR6 29 30
  • 78.87 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTMR6 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtmr6 29
  • 71.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii mtmr6 29 30
  • 65.46 (n)
OneToOne
wufi04a11 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1836 29
Fruit Fly
(Drosophila melanogaster)
Insecta BcDNA:GH04637 31
  • 53 (a)
CG3530 30
  • 39 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T24A11.1a 31
  • 36 (a)
T24A11.1b 31
  • 35 (a)
mtm-6 30
  • 32 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E05853g 29
  • 50.89 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YMR1 29 30
  • 49.58 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR152C 29
  • 48.54 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC19A8.03 29
  • 48.85 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 47 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU11185 29
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR6: view image
Alliance of Genome Resources:
Additional Orthologs for MTMR6

Paralogs for MTMR6 Gene

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

  • MTMR6_HUMAN
genes like me logo Genes that share paralogs with MTMR6: view

Variants for MTMR6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR6 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs34885345 -- p.Ala131Thr
rs7995033 -- p.Ile319Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTMR6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for MTMR6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR6
Leiden Open Variation Database (LOVD)
MTMR6

SNP Genotyping and Copy Number Assays for research

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

Disorders for MTMR6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MTMR6 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
myopathy, centronuclear, x-linked
  • cnmx
rh deficiency syndrome
  • rh disease
centronuclear myopathy
  • myotubular myopathy
autosomal dominant polycystic kidney disease
  • congenital biliary ectasias
charcot-marie-tooth disease
  • cmt - charcot-marie-tooth disease
- elite association - COSMIC cancer census association via MalaCards
Search MTMR6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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. MTMR9 increases MTMR6 enzyme activity, stability, and role in apoptosis. (PMID: 19038970) Zou J … Majerus PW (The Journal of biological chemistry 2009) 3 4 22
  2. Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells. (PMID: 16847315) Srivastava S … Skolnik EY (Molecular and cellular biology 2006) 3 4 22
  3. 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 EY (Molecular and cellular biology 2005) 3 4 22
  4. Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases. (PMID: 12646134) Schaletzky J … Barr FA (Current biology : CB 2003) 3 4 22
  5. 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

Products for MTMR6 Gene

Sources for MTMR6 Gene