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This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids throug... See more...
Aliases for MTMR3 Gene
Aliases for MTMR3 Gene
External Ids for MTMR3 Gene
- HGNC: 7451
- NCBI Entrez Gene: 8897
- Ensembl: ENSG00000100330
- OMIM®: 603558
- UniProtKB/Swiss-Prot: Q13615
Previous GeneCards Identifiers for MTMR3 Gene
- GC22P026975
- GC22P028603
- GC22P030279
- GC22P013241
Summaries for MTMR3 Gene
-
This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for MTMR3 Gene
MTMR3 (Myotubularin Related Protein 3) is a Protein Coding gene. Diseases associated with MTMR3 include Charcot-Marie-Tooth Disease, Type 4B3 and Myopathy, Centronuclear, X-Linked. Among its related pathways are Macroautophagy and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR4.
UniProtKB/Swiss-Prot Summary for MTMR3 Gene
-
Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931).
Additional gene information for MTMR3 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR3 Gene
Genomics for MTMR3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MTMR3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around MTMR3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR3
- Top Transcription factor binding sites by QIAGEN in the MTMR3 gene promoter:
-
- AML1a
- Cdc5
- IRF-1
- MAZR
- Pax-5
- Pbx1a
- SREBP-1a
- SREBP-1b
Genomic Locations for MTMR3 Gene
Latest Assembly
- chr22:29,883,169-30,030,868
- (GRCh38/hg38)
- Size:
- 147,700 bases
- Orientation:
- Plus strand
Previous Assembly
- chr22:30,279,163-30,426,857
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 147,695 bases
- Orientation:
- Plus strand
Genomic View for MTMR3 Gene
Genes around MTMR3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q12.2 by HGNC
- 22q12.2 by Entrez Gene
- 22q12.2 by Ensembl
MTMR3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for MTMR3 Gene
Proteins for MTMR3 Gene
-
Protein details for MTMR3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13615-MTMR3_HUMAN
- Recommended name:
- Myotubularin-related protein 3
- Protein Accession:
- Q13615
- A5PL26
- A7MD32
- Q9NYN5
- Q9NYN6
- Q9UDX6
- Q9UEG3
Protein attributes for MTMR3 Gene
- Size:
- 1198 amino acids
- Molecular mass:
- 133619 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA20826.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for MTMR3 Gene
Selected DME Specific Peptides for MTMR3 Gene
- Q13615:
-
- GHKFADRCGH
- HCSDGWDRT
- YRTIEGF
- FMGMANIH
- PDPGNWLSALESTKWL
- PQKLLILDARSY
- GAVIARC
Post-translational modifications for MTMR3 Gene
Other Protein References for MTMR3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for MTMR3
-
Abcam antibodies for MTMR3
- Invitrogen Antibodies for MTMR3 (AFLGC-MTMR3)
-
Boster Bio Antibodies for MTMR3
-
Custom Antibody ServicesProSci Antibodies for MTMR3
-
Santa Cruz Biotechnology (SCBT) Antibodies for MTMR3
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MTMR3
- Origene Custom Protein Services for MTMR3
- Novus Biologicals proteins for MTMR3
-
Abcam proteins for MTMR3
Assay products for research
Domains & Families for MTMR3 Gene
Gene Families for MTMR3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for MTMR3 Gene
- InterPro:
- Blocks:
-
- Zn-finger, FYVE type
- Myotubularin-related
Suggested Antigen Peptide Sequences for MTMR3 Gene
- GenScript: Design optimal peptide antigens:
-
- Myotubularin related protein 3 (A7E2W2_HUMAN)
- Zinc finger FYVE domain-containing protein 10 (MTMR3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13615UniProtKB/Swiss-Prot:
MTMR3_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.
Function for MTMR3 Gene
Molecular function for MTMR3 Gene
- UniProtKB/Swiss-Prot Function:
- Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931).
- 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:11676921};.
- 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:11676921};.
- 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, ECO:0000269|PubMed:10733931};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate; Xref=Rhea:RHEA:45640, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:72835, ChEBI:CHEBI:78995; Evidence={ECO:0000269|PubMed:11676921};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-phosphate) + H2O = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:45636, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:78994, ChEBI:CHEBI:84968; Evidence={ECO:0000269|PubMed:11676921};.
- 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};.
- GENATLAS Biochemistry:
- myotubularin related protein 3,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas
Enzyme Numbers (IUBMB) for MTMR3 Gene
Phenotypes From GWAS Catalog for MTMR3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004438 | phosphatidylinositol-3-phosphatase activity | IBA,IDA | 10900271 |
| GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
| GO:0004722 | protein serine/threonine phosphatase activity | IDA | 10733931 |
| GO:0004725 | protein tyrosine phosphatase activity | IDA | 10733931 |
| GO:0005515 | protein binding | IPI | 26787466 |
Phenotypes for MTMR3 Gene
- MGI mutant phenotypes for MTMR3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MTMR3:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased hepcidin::fluc mRNA expression
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased shRNA abundance
- Increased Akt phosphorylation after EGF stimulation
- Increased Erk phosphorylation after EGF stimulation
- Increased focal adhesion (FA) area, decreased number of small and round FAs, decreased FA abundance, decreased cell spreading
- Decreased Salmonella proliferation
Animal Models for MTMR3 Gene
- MGI Knock Outs for MTMR3:
-
- Mtmr3 Mtmr3<tm1b(EUCOMM)Hmgu>
Animal Models for research
-
Taconic Biosciences Mouse Models for MTMR3
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MTMR3 - Starting at $85 >
- * MTMR3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MTMR3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MTMR3
-
Santa Cruz Biotechnology (SCBT) CRISPR for MTMR3
miRNA for MTMR3 Gene
- miRTarBase miRNAs that target MTMR3
-
- hsa-miR-181a-5p (MIRT006871)
- hsa-miR-877-5p (MIRT037294)
- hsa-miR-423-5p (MIRT038158)
- hsa-miR-106b-3p (MIRT038555)
- hsa-miR-125b-5p (MIRT045920)
- hsa-miR-27b-3p (MIRT046210)
- hsa-miR-106a-5p (MIRT048345)
- hsa-miR-17-5p (MIRT050972)
- hsa-miR-99a-5p (MIRT053347)
- hsa-miR-20a-5p (MIRT157585)
- hsa-miR-93-5p (MIRT157586)
- hsa-miR-106b-5p (MIRT157590)
- hsa-miR-20b-5p (MIRT157601)
- hsa-miR-519d-3p (MIRT157612)
- hsa-miR-15a-5p (MIRT300992)
- hsa-miR-16-5p (MIRT300993)
- hsa-miR-103a-3p (MIRT300994)
- hsa-miR-107 (MIRT300995)
- hsa-miR-15b-5p (MIRT300996)
- hsa-miR-195-5p (MIRT300997)
- hsa-miR-424-5p (MIRT300998)
- hsa-miR-497-5p (MIRT300999)
- hsa-miR-4310 (MIRT301000)
- hsa-miR-4524a-5p (MIRT301001)
- hsa-miR-4524b-5p (MIRT301002)
- hsa-miR-6838-5p (MIRT301003)
- hsa-miR-7157-5p (MIRT301004)
- hsa-miR-218-5p (MIRT440205)
- hsa-miR-646 (MIRT566701)
- hsa-miR-490-3p (MIRT566702)
- hsa-miR-548x-3p (MIRT566703)
- hsa-miR-548j-3p (MIRT566704)
- hsa-miR-548aq-3p (MIRT566705)
- hsa-miR-548am-3p (MIRT566706)
- hsa-miR-548aj-3p (MIRT566707)
- hsa-miR-548ah-3p (MIRT566708)
- hsa-miR-548ae-3p (MIRT566709)
- hsa-miR-548z (MIRT566710)
- hsa-miR-548h-3p (MIRT566711)
- hsa-miR-548d-3p (MIRT566712)
- hsa-miR-548bb-3p (MIRT566713)
- hsa-miR-548ac (MIRT566714)
- hsa-miR-503-5p (MIRT566715)
- hsa-miR-6848-3p (MIRT572909)
- hsa-miR-6843-3p (MIRT572910)
- hsa-miR-196a-3p (MIRT572911)
- hsa-miR-8073 (MIRT572912)
- hsa-miR-3128 (MIRT572913)
- hsa-miR-221-5p (MIRT572914)
- hsa-miR-6884-3p (MIRT572915)
- hsa-miR-1914-3p (MIRT738512)
- hsa-miR-3188 (MIRT740937)
- hsa-miR-4257 (MIRT743417)
- hsa-miR-4636 (MIRT746312)
- hsa-miR-5194 (MIRT749976)
- hsa-miR-595 (MIRT751602)
- hsa-miR-6736-3p (MIRT754201)
- hsa-miR-6738-5p (MIRT754271)
- hsa-miR-6847-5p (MIRT757478)
- hsa-miR-6866-5p (MIRT757937)
- hsa-miR-6873-5p (MIRT758075)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MTMR3
- Browse OriGene Inhibitory RNA Products For MTMR3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR3
Clone products for research
- Applied Biological Materials (abm): Clones for MTMR3 - Starting at $45 >
- * MTMR3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211596
- MG211725
- MR211596
- MR211725
- MR211725L3
- MR211725L4
- RC216461
- RC216461L1
- RC216461L2
- RC216461L3
- RC216461L4
- RC220061
- RC220061L3
- RC220061L4
- RC222287
- RC222287L3
- RC222287L4
- RG216461
- RG220061
- RG222287
- RR211921
- MR211725L3V
- MR211725L4V
- RC216461L1V
- RC216461L2V
- RC216461L3V
- RC216461L4V
- RC220061L3V
- RC220061L4V
- RC222287L3V
- RC222287L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MTMR3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MTMR3
Cell Lines for research
-
Horizon Cell Lines for MTMR3
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTMR3 Gene
Localization for MTMR3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MTMR3 Gene
- Cytoplasm. Membrane. Peripheral membrane protein.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| cytoskeleton | 2 |
| endosome | 2 |
| lysosome | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 10733931 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IEA,IDA | 10733931 |
| GO:0019898 | extrinsic component of membrane | IDA | 11676921 |
Pathways & Interactions for MTMR3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | superpathway of inositol phosphate compounds | ||
| 2 | Metabolism |
.40
|
|
| 3 | PI Metabolism |
.63
|
|
| 4 | Autophagy - animal | ||
| 5 | Cellular Senescence (REACTOME) | ||
Pathways by source for MTMR3 Gene
3 BioSystems pathways for MTMR3 Gene
7 Reactome pathways for MTMR3 Gene
4 KEGG pathways for MTMR3 Gene
Interacting Proteins for MTMR3 Gene
Selected Interacting proteins:
Q13615-MTMR3_HUMAN
ENSP00000384651
for MTMR3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for MTMR3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006470 | protein dephosphorylation | IDA | 10733931 |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
| GO:0010506 | regulation of autophagy | IBA | 21873635 |
| GO:0016236 | macroautophagy | TAS | -- |
Transcripts for MTMR3 Gene
mRNA/cDNA for MTMR3 Gene
- 4 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000323630 5866 nts (view in UCSC)
- ENST00000333027 8906 nts (view in UCSC)
- ENST00000351488 4464 nts (view in UCSC)
- ENST00000401950 8987 nts (view in UCSC)
- ENST00000406629 3758 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for MTMR3 - Starting at $85 >
- * MTMR3 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for MTMR3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MTMR3
-
Santa Cruz Biotechnology (SCBT) CRISPR for MTMR3
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MTMR3
- Browse OriGene Inhibitory RNA Products For MTMR3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR3
Clone products for research
- Applied Biological Materials (abm): Clones for MTMR3 - Starting at $45 >
- * MTMR3 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG211596
- MG211725
- MR211596
- MR211725
- MR211725L3
- MR211725L4
- RC216461
- RC216461L1
- RC216461L2
- RC216461L3
- RC216461L4
- RC220061
- RC220061L3
- RC220061L4
- RC222287
- RC222287L3
- RC222287L4
- RG216461
- RG220061
- RG222287
- RR211921
- MR211725L3V
- MR211725L4V
- RC216461L1V
- RC216461L2V
- RC216461L3V
- RC216461L4V
- RC220061L3V
- RC220061L4V
- RC222287L3V
- RC222287L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for MTMR3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MTMR3
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 17a | · | 17b | · | 17c |
|---|---|---|---|---|---|
| SP1: | |||||
| SP2: | |||||
| SP3: | |||||
| SP4: | |||||
| SP5: | |||||
| SP6: | |||||
| SP7: | |||||
| SP8: | |||||
| SP9: |
Relevant External Links for MTMR3 Gene
- GeneLoc Exon Structure for
- MTMR3
Expression for MTMR3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for MTMR3 Gene
This gene is overexpressed in Whole Blood (x7.2).
This gene is overexpressed in Blymphocyte (18.8), Heart (12.4), and Testis (9.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MTMR3 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTMR3
SOURCE GeneReport for Unigene cluster for MTMR3 Gene:
Hs.474536Evidence on tissue expression from TISSUES for MTMR3 Gene
- Nervous system(4.8)
- Liver(4.3)
- Lung(2.7)
- Muscle(2.1)
- Skin(2)
Primer products for research
-
OriGene qPCR primer pairs for MTMR3
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTMR3 Gene
Orthologs for MTMR3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MTMR3 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MTMR3 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MTMR3 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mtmr3 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mtmr3 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MTMR3 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MTMR3 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MTMR3 29 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mtmr3 29 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Mtmr3 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | MTMR3 (3 of 3) 30 |
|
OneToMany | |
| mtmr3 29 30 |
|
OneToMany | |||
| MTMR3 (2 of 3) 30 |
|
OneToMany | |||
| -- 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG3632 30 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | T24A11.1a 31 |
|
|
|
| T24A11.1b 31 |
|
|
- Species where no ortholog for MTMR3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Lizard (Anolis carolinensis)
- 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 MTMR3 Gene
- ENSEMBL:
- Gene Tree for MTMR3 (if available)
- TreeFam:
- Gene Tree for MTMR3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for MTMR3: view image
- Alliance of Genome Resources:
- Additional Orthologs for MTMR3
Paralogs for MTMR3 Gene
Paralogs for MTMR3 Gene
(10) SIMAP similar genes for MTMR3 Gene using alignment to 4 proteins:
- MTMR3_HUMAN
- A7E2W2_HUMAN
- C9JLU3_HUMAN
- G5E953_HUMAN
Variants for MTMR3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR3 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_035656 | A breast cancer sample |
p.Val221Leu |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv760n67 | CNV | gain | 20364138 |
| esv2667111 | CNV | deletion | 23128226 |
| esv26961 | CNV | loss | 19812545 |
| esv2724133 | CNV | deletion | 23290073 |
| esv27258 | CNV | gain | 19812545 |
| esv2763694 | CNV | loss | 21179565 |
| esv3307560 | CNV | mobile element insertion | 20981092 |
| esv3331654 | CNV | insertion | 20981092 |
| esv3441917 | CNV | insertion | 20981092 |
| esv3568352 | CNV | loss | 25503493 |
| esv3568353 | CNV | loss | 25503493 |
| esv3568355 | CNV | loss | 25503493 |
| esv3647549 | CNV | loss | 21293372 |
| esv3647550 | CNV | loss | 21293372 |
| esv3647551 | CNV | loss | 21293372 |
| nsv1058511 | CNV | loss | 25217958 |
| nsv1064489 | CNV | loss | 25217958 |
| nsv1109464 | CNV | deletion | 24896259 |
| nsv1110864 | OTHER | inversion | 24896259 |
| nsv3591 | CNV | deletion | 18451855 |
| nsv523696 | CNV | gain | 19592680 |
| nsv588883 | CNV | loss | 21841781 |
| nsv829163 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
4.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.84;
58.72% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for MTMR3 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR3 Gene
Disorders for MTMR3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| charcot-marie-tooth disease, type 4b3 |
|
|
| myopathy, centronuclear, x-linked |
|
|
| nephrotic syndrome, type 7 |
|
|
| autoimmune glomerulonephritis |
|
|
| centronuclear myopathy |
|
|
Search MTMR3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MTMR3
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for MTMR3 Gene
Publications for MTMR3 Gene
- FYVE-DSP1, a dual-specificity protein phosphatase containing an FYVE domain. (PMID: 10733931) Zhao R … Zhao ZJ (Biochemical and biophysical research communications 2000) 3 4 22
- 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
- A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. (PMID: 8640223) Laporte J … Dahl N (Nature genetics 1996) 2 3 4
- A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy. (PMID: 22197929) Yu XQ … Liu JJ (Nature genetics 2011) 3 40
- A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. (PMID: 21725308) Hu Z … Shen H (Nature genetics 2011) 3 40
ExternalLinks
Products for MTMR3 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
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- Custom Assay Services
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- Origene Custom Protein Services for MTMR3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MTMR3
- Browse OriGene Inhibitory RNA Products For MTMR3
- OriGene qPCR primer pairs for MTMR3
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- MG211596
- MG211725
- MR211596
- MR211725
- MR211725L3
- MR211725L4
- RC216461
- RC216461L1
- RC216461L2
- RC216461L3
- RC216461L4
- RC220061
- RC220061L3
- RC220061L4
- RC222287
- RC222287L3
- RC222287L4
- RG216461
- RG220061
- RG222287
- RR211921
- MR211725L3V
- MR211725L4V
- RC216461L1V
- RC216461L2V
- RC216461L3V
- RC216461L4V
- RC220061L3V
- RC220061L4V
- RC222287L3V
- RC222287L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MTMR3
- Sino Biological Human cDNA Clone for MTMR3
- Browse Sino Biological Recombinant Proteins
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- Browse cDNA Clones
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for MTMR3
- Novus Biologicals proteins for MTMR3
- Browse Antibodies
- Browse Peptides and Proteins
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- Abcam antibodies for MTMR3
- Abcam proteins for MTMR3
- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- Taconic Biosciences Mouse Models for MTMR3
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for MTMR3 (AFLGC-MTMR3)
- VectorBuilder Custom and pre-made DNA vectors for MTMR3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for MTMR3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for MTMR3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for MTMR3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MTMR3
- antibodies-online: Show 17 available MTMR3 Antibodies ranked by validation data
- Compare Top MTMR3 Antibodies
- antibodies-online: Search results for available MTMR3 related products ranked by validation data
- antibodies-online: Show 3 available MTMR3 Proteins ranked by validation data
- Compare Top MTMR3 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for MTMR3
- Search Santa Cruz Biotechnology (SCBT) for MTMR3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MTMR3
- Custom Antibody ServicesProSci Antibodies for MTMR3
- Search for MTMR3 Proteins at ProSci
- Horizon Cell Lines for MTMR3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MTMR3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MTMR3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MTMR3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR3
- Boster Bio Antibodies for MTMR3
- Browse Boster Bio ELISA Kits
Sources for MTMR3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources