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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MTMR10 Gene

protein-coding GIFtS: 44
GCID: GC15M031231

myotubularin related protein 10

Explore 3 diseases affiliated with
MTMR10 via

MalaCards

our new
Human Malady Compendium

(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 10¹ ²
FLJ20313¹
Myotubularin-Related Protein 10²

External Ids:	HGNC: 25999¹	Entrez Gene: 54893²	Ensembl: ENSG00000166912⁷	UniProtKB: Q9NXD2³

Export aliases for MTMR10 gene to outside databases

Previous GC identifers: GC15M029019 GC15M008408

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: MTMRA_HUMAN, Q9NXD2

Function: Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase

catalytic loop which renders it catalytically inactive as a phosphatase (Potential)

(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_000015.9 NC_018926.1 NT_010194.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MTMR10 gene promoter:
NF-1 Sox5 AML1a HNF-4alpha2 GATA-2 HNF-4alpha1 GATA-6 POU2F1 POU2F1a ZID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MTMR10 promoter sequence

Search SABiosciences Chromatin IP Primers for MTMR10

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MTMR10

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q13.3 Ensembl cytogenetic band: 15q13.3 HGNC cytogenetic band: 15q13.3

MTMR10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MTMR10 gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M031231: view genomic region (about GC identifiers)

Start:	31,231,144 bp from pter	End:	31,283,810 bp from pter
Size:	52,667 bases	Orientation:	minus strand

(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: MTMRA_HUMAN, Q9NXD2 (See protein sequence)

Recommended Name: Myotubularin-related protein 10

Size: 777 amino acids; 88273 Da

Secondary accessions: Q6P4Q6

Alternative splicing: 3 isoforms: Q9NXD2-1 Q9NXD2-2 Q9NXD2-3 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for MTMR10: NX_Q9NXD2

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NXD2

MTMR10 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_060232.2

ENSEMBL proteins:

ENSP00000402537 ENSP00000457903 ENSP00000455869 ENSP00000457781 ENSP00000457390

ENSP00000457873 ENSP00000455903 ENSP00000313788 ENSP00000412314

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MTMR10 for domains About GeneDecksing

4 InterPro domains/families:

IPR022587 Myotubularin_assoc

IPR017906 Myotubularin_phosphatase_dom

IPR010569 Myotub-related

IPR011993 PH_like_dom

Graphical View of Domain Structure for InterPro Entry Q9NXD2

ProtoNet protein and cluster: Q9NXD2

UniProtKB/Swiss-Prot: MTMRA_HUMAN, Q9NXD2

Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily

Similarity: Contains 1 myotubularin phosphatase domain

(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: MTMRA_HUMAN, Q9NXD2

Function: Probable pseudophosphatase. Contains a Glu residue instead of a conserved Cys residue in the dsPTPase

catalytic loop which renders it catalytically inactive as a phosphatase (Potential)

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In Situ Assay
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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:0016791	phosphatase activity	IEA	--

MTMR10 for ontologies About GeneDecksing

(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 Central^TM Interacting Genes and Proteins Networks for MTMR10

3 Interacting proteins for MTMR10 (Q9NXD2^{2, 3}) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMAD5	Q99717²^,³	MINT-61827 I2D: score=3
SMAD9	O15198²^,³	MINT-62129 I2D: score=3
KBTBD7	Q8WVZ9³	I2D: score=1

About this table

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MTMR10
Search CenterWatch for drugs/clinical trials and news about MTMR10 / MTMRA

(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,
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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 MTMR10 gene:

NM_017762.2

Unigene Cluster for MTMR10:

Myotubularin related protein 10

Hs.30141 [show with all ESTs]

Unigene Representative Sequence: AL832603

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000435680(uc001zfh.1 uc010azx.1) ENST00000568604(uc001zfi.1)

ENST00000566338(uc001zfg.1) ENST00000568547 ENST00000567567 ENST00000563714(uc001zfj.3)

ENST00000566981 ENST00000565728 ENST00000568611 ENST00000564787(uc010ubl.1)

ENST00000314404 ENST00000425768(uc010ubk.1)

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		hsa-miR-142-5p hsa-miR-485-3p hsa-miR-128 hsa-miR-624* hsa-miR-301a hsa-miR-124 hsa-miR-3658 hsa-miR-23a

		SwitchGear 3'UTR luciferase reporter plasmid: MTMR10 3' UTR sequence

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Additional cDNA sequence:

AK000320.1 AK296926.1 AK303672.1 AL832603.1 BC050478.1 BC121171.1 BC121172.1

17 DOTS entries:

DT.452713 DT.217100 DT.97792107 DT.91742503 DT.86848576 DT.121027699 DT.40110979 DT.99993945

DT.75101635 DT.75149339 DT.91744827 DT.95072517 DT.95338835 DT.100764232 DT.100764244 DT.215209

DT.99992948

24/178 AceView cDNA sequences (see all 178):

CA444232 BX391669 AA425044 BM457190 AA001284 AA385523 CR605921 CK429354

AA376874 CR621765 BQ218521 AW505522 BG747926 BQ437191 R69219 AI218073

N33998 AI261698 BE387704 AI613061 BG751186 BE383948 BX103807 AL560924

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MTMR10 (see all 9) About this scheme

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

ECgene alternative splicing isoforms for MTMR10

(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

MTMR10 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGTGACAGC

About this image
See MTMR10 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MTMR10

SOURCE GeneReport for Unigene cluster: Hs.30141

SABiosciences Custom PCR Arrays for MTMR10

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MTMR10

(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 MTMR10 gene from 7/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MTMR10¹	myotubularin related protein 10	78.07(n) 84.82(a)		415382 XM_003641875.1 XP_003641923.1
lizard (Anolis carolinensis)	Reptilia	MTMR10⁶	--	84(a)	1 ↔ 1	GL343428.1(52719-77911)
African clawed frog (Xenopus laevis)	Amphibia	BU908202.1²	--	78.7(n)		BU908202.1
zebrafish (Danio rerio)	Actinopterygii	mtmr10¹	myotubularin related protein 10	63.86(n) 63.59(a)		555239 NM_001077597.2 NP_001071065.2
fruit fly (Drosophila melanogaster)	Insecta	CG14411¹	CG14411	43.55(n) 34.77(a)		32408 NM_001169285.1 NP_001162756.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G04540⁶ MTM1⁶	Myotubularin-like phosphatases II-like protein	15(a) 13(a)	many ↔ many many ↔ many	5(1296442-1302444) 3(3292899-3298522)
rice (Oryza sativa)	Liliopsida	--	inositol or phosphatidylinositol phosphatase/ phos...	15(a)	1 → many	8(27856282-27865603)

ENSEMBL Gene Tree for MTMR10 (if available)
TreeFam Gene Tree for MTMR10 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MTMR10 gene

MTMR4² MTMR7² MTMR12² MTMR2² MTM1² MTMR8² MTMR3² MTMR9²

SBF2² MTMR6² MTMR11² SBF1² MTMR1²

8 SIMAP similar genes for MTMR10 using alignment to 8 protein entries: MTMRA_HUMAN (see all proteins):

MTMR3 MTMR4 MTMR8 MTMR12 MTMR2 MTM1

MTMR1 MTMR11

MTMR10 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs187106766^1,2	C,	unknown	31276765(+)	`AAGACA/C/GTATGG`	1	--	int¹		0	--	--	--	--
rs17815654^1,2	C,F,	--	31235904(+)	`CTGGGC/TGGGTG`	1	--	int¹		5		NA	264
rs113189585^1,2	C,	--	31235913(+)	`TGCAGG/CCTAGT`	1	--	int¹		1		NA	2
rs144872531^1,2		--	31235971(+)	`GTGACA/GGCCAA`	1	--	int¹		0	--	--	--	--
rs3817496^1,2	C,H	--	31236117(+)	`GTGTAT/CACACA`	1	--	int¹		4		NS EA	418
rs63044061^1,2	C,F,	--	31236145(-)	`TCTGGG/AGTTAT`	1	--	int¹		11		NA WA CSA EA	373
rs138777081^1,2		--	31236217(+)	`CAAATA/TTTCTA`	1	--	int¹		0	--	--	--	--
rs117916281^1,2	F,	--	31236236(+)	`AAACCC/ACCAAG`	1	--	int¹		1		NA	120
rs141721286^1,2		--	31236298(+)	`GAATAA/TAGCAG`	1	--	int¹		0	--	--	--	--
rs187115566^1,2		--	31236345(+)	`TCCCTA/GGCACA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MTMR10 (31231144 - 31283810 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for MTMR10
3 CNVs: 4890 4889 7057
1 Inversion: 37164

SABiosciences Cancer Mutation PCR Assays

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(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

MTMR10 for disorders About GeneDecksing

3 diseases for MTMR10: About MalaCards

congenital stationary night blindness night blindness blindness

1 disease from the University of Copenhagen DISEASES database for MTMR10:

Congenital stationary night blindness

Export disorders for MTMR10 gene to outside databases

(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 MTMR10 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with MTMR10)

Utopia: connect your pdf to the dynamic
world of online information

PTEN and myotubularin phosphatases: from 3-phosphoino sitide dephosphorylation to disease. (PubMed id 12495846)^{1, 3} Wishart M.J. and Dixon J.E. (2002)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)² Zody M.C....Nusbaum C. (2006)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (2006)
Functional proteomics mapping of a human signaling pathway. (PubMed id 15231748)¹ Colland F....Gauthier J.M. (2004)
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)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 54893	HGNC: 25999	AceView: FLJ20313	Ensembl:ENSG00000166912	euGenes: HUgn54893
ECgene: MTMR10	H-InvDB: MTMR10

(According to HUGE)
About This Section

(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 MTMR10	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MTMR10 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MTMR10 gene:
Search GeneIP for patents involving MTMR10

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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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	Browse OriGene Antibodies		OriGene shRNA RFP for MTMR10
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MTMR10
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	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MTMR10
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	GenScript Custom Purified and Recombinant Proteins Services for MTMR10		GenScript cDNA clones with any tag delivered in your preferred vector for MTMR10
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes MTMR10 gene at Home site.

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MTMR10 Gene

myotubularin related protein 10

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MTMR10 Gene

myotubularin related protein 10

Aliasesfor MTMR10 gene

Summariesfor MTMR10 gene

Genomic Viewsfor MTMR10 gene

Proteinsfor MTMR10 gene

Protein Domains /Familiesfor MTMR10 gene

Functionfor MTMR10 gene

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for MTMR10 gene

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for MTMR10 gene

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for MTMR10 gene

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for MTMR10 gene

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for MTMR10 gene

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for MTMR10 gene

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for MTMR10 gene

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for MTMR10 gene

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for MTMR10 gene

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