MTMR8 Gene
protein-coding GIFtS: 52
GCID: GC0XM063445
|
|
myotubularin related protein 8
| |
Aliases for MTMR8 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Myotubularin Related Protein 81 2 | | MTMR95 | | FLJ201261 | | EC 3.1.38 | | Myotubularin-Related Protein 82 | | EC 3.1.3.488 | | EC 3.1.3.-3 | | |
Export aliases for MTMR8 gene to outside databasesPrevious GC identifers: GC0XM059708 GC0XM060953 GC0XM061721 GC0XM062354 GC0XM063270 GC0XM063404 GC0XM063487 GC0XM057310 |
Summaries for MTMR8 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for MTMR8: This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members aredual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and aSET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases.(provided by RefSeq, Mar 2010) UniProtKB/Swiss-Prot: MTMR8_HUMAN, Q96EF0Function: Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable)
|
Genomic Views for MTMR8 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011669.17
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the MTMR8 gene promoter: AREB6 AML1a STAT5A Nkx2-5 LCR-F1 Evi-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for MTMR8
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTMR8 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq11.2 Ensembl cytogenetic band: Xq11.2 HGNC cytogenetic band: Xq11.2-q12MTMR8 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM063445: view genomic region
(about GC identifiers)
Start:
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63,444,187 bp from pter |
End:
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63,615,333 bp from pter |
Size:
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171,147 bases |
Orientation:
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minus strand |
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Proteins for MTMR8 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: MTMR8_HUMAN, Q96EF0 (See
protein sequence)Recommended Name: Myotubularin-related protein 8 Size: 704 amino acids; 78919 Da
Subunit: Interacts with MTMR9
Subcellular location: Nucleus envelope
Sequence caution: Sequence=BAA90964.1; Type=Erroneous initiation;
Secondary accessions: Q5JT99 Q9NXP6Alternative splicing: 2 isoforms: Q96EF0-1 Q96EF0-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MTMR8: NX_Q96EF0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96EF0 4/6 DME Specific Peptides for MTMR8 (Q96EF0) (see all 6)
MTMR8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_060147.2 ENSEMBL proteins: ENSP00000363985 ENSP00000405490 ENSP00000394003 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005622 | intracellular |
-- | -- | | GO:0005635 | nuclear envelope |
IEA | -- |
MTMR8 for ontologies About GeneDecksing
MTMR8 Antibody Products: Assay Products for MTMR8: |
Protein
Domains / Families for MTMR8 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MTMR8 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q96EF0ProtoNet protein and cluster: Q96EF0 1 Blocks protein family: IPB010569 Myotubularin-related
UniProtKB/Swiss-Prot: MTMR8_HUMAN, Q96EF0Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamilySimilarity: Contains 1 myotubularin phosphatase domain |
Function for MTMR8 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: MTMR8_HUMAN, Q96EF0Function: Phosphatase that acts on lipids with a phosphoinositol headgroup (Probable)Enzyme Numbers (IUBMB): EC 3.1.32 EC 3.1.3.482 EC 3.1.3.-1
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTMR8 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTMR8 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for MTMR8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR8  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR8 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004725 | protein tyrosine phosphatase activity |
IEA | -- |
MTMR8 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MTMR8:
|
Pathways & Interactions for MTMR8 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MTMR8
STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)
 5/25 Interacting proteins for MTMR8 (Q96EF02, 3 ENSP000003639854) via UniProtKB, MINT, STRING, and/or I2D (see all 25)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016567 | protein ubiquitination |
-- | -- | | GO:0035556 | intracellular signal transduction |
-- | -- |
MTMR8 for ontologies About GeneDecksing
|
Drugs & Compounds for MTMR8 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for MTMR8 Search CenterWatch for drugs/clinical trials and news about MTMR8 
|
Transcripts for MTMR8 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for MTMR8 gene: NM_017677.3 Unigene Cluster for MTMR8: Myotubularin related protein 8 Hs.442892 [show with all ESTs]Unigene Representative Sequence: NM_0176776 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000374852(uc004dvs.3) ENST00000442913 ENST00000478487 ENST00000462447 ENST00000461403 ENST00000453546(uc011mou.2)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MTMR8 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MTMR8 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MTMR8 (NM_017677) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MTMR8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR8  |
Additional cDNA sequence: AK000133.1 AK225231.1 BC012399.1 3 DOTS entries: DT.40113840 DT.100001536 DT.101977028 15 AceView cDNA sequences: AA349955 BU730527 BM545864 AI655417 AK000133 NM_017677 BC012399 CR605498 CF529125 BP363776 AW957331 AI923031 AL529411 BF884888 AL563434 GeneLoc Exon Structure
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Expression for MTMR8 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MTMR8 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GGCATCTTGG
About this image See MTMR8 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for MTMR8
SOURCE GeneReport for Unigene cluster: Hs.442892 SABiosciences Custom PCR Arrays for MTMR8
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MTMR8 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat MTMR8 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MTMR8 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MTMR8 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR8 |
Orthologs for MTMR8 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MTMR8 gene from 8/22 species (see all 22) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
MTMR81 |
myotubularin related protein 8 |
70.63(n) 68.48(a) |
  |
422312 NM_001012699.1 NP_001012717.1 |
lizard (Anolis carolinensis) |
Reptilia |
MTMR86 |
-- |
65(a) |
1 ↔ 1 |
GL343875.1(4820-22589) |
tropical clawed frog (Xenopus tropicalis) |
Amphibia |
1377228752 |
-- |
72.93(n) |
  |
137722875 |
zebrafish (Danio rerio) |
Actinopterygii |
mtmr81 |
myotubularin related protein 8 |
63.41(n) 63.1(a) |
  |
393365 NM_200394.1 NP_956688.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG50263 CG35301 |
protein tyrosine/serine/threonine phosphatase3 CG35301 |
43(a)3 57.91(n)1 55.16(a)1 |
  |
66E53 377071 NM_137947.21 NP_611791.21 |
worm (Caenorhabditis elegans) |
Secernentea |
mtm-61 |
Protein MTM-6 |
50.09(n) 41.71(a) |
  |
176757 NM_001027431.2 NP_001022602.1 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
MTM16AT5G045406 |
Myotubularin-like phosphatases II-like protein |
21(a)21(a) |
many ↔ manymany ↔ many |
3(3292899-3298522) 5(1296442-1302444) |
rice (Oryza sativa) |
Liliopsida |
-- |
inositol or phosphatidylinositol phosphatase/ phos... |
21(a) |
1 → many |
8(27856282-27865603) |
ENSEMBL Gene Tree for MTMR8 (if available) TreeFam Gene Tree for MTMR8 (if available)  |
Paralogs for MTMR8 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for MTMR8 gene
- MTMR42 MTMR72 MTMR122 MTMR22 MTMR102 MTM12 MTMR32 SBF22
- MTMR62 MTMR92 MTMR112 SBF12 MTMR12
14 SIMAP similar genes for MTMR8 using alignment to 3 protein entries: MTMR8_HUMAN (see all proteins):ASB12 MTMR6 DKFZp761E1322 MTPN MTMR7 MTMR2 MTMR10 MTMR1 MTM1 ASB1 MTMR9 GABPB1 MTMR3 MTMR4
MTMR8 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for MTMR8 PGOHUM00000242009
|
Genomic Variants for MTMR8 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr X pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for MTMR8 (63444187 - 63615333 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 3 variations for MTMR8 3 CNVs: 4153 83563 3251 Locus Specific Mutation Databases (LSDB): MTMR8
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MTMR8 |
|
Disorders
/ Diseases for MTMR8 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MTMR8 for disorders About GeneDecksing
OMIM gene information: 606260
OMIM disorders: --
3 diseases for MTMR8: About MalaCardscentronuclear myopathy myopathy genetic disease Export disorders for MTMR8 gene to outside databases
|
Publications for MTMR8 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MTMR8 gene, integrated from 9 sources (see all 11): (articles sorted by number of sources associating them with MTMR8) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The myotubularin family: from genetic disease to phosphoinositide metabolism. (PubMed id 11275328)1, 3 Laporte J....Mandel J.L. (2001)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions. (PubMed id 16787938)2 Lorenzo O.... Clague M.J. (2006)
- The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)2 Ross M.T.... Bentley D.R. (2005)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for MTMR8 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing MTMR8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MTMR8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MTMR8 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for MTMR8 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for MTMR8 gene: Search GeneIP for patents involving MTMR8
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for MTMR8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
 |
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| | | Search Tocris compounds for MTMR8 |
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 | | MTMR8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR8 |
|  |  |  | | | ThermoFisher Antibodies for MTMR8 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MTMR8 |
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