MTMR3 - myotubularin related protein 3 Gene

Homo sapiens

Also known as ZFYVE10; FYVE-DSP1

Gene ID: 8897 | Gene type: protein coding

About MTMR3

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:29,883,174-30,030,868 (from NCBI)

This gene has 12 transcripts (splice variants), 245 orthologues and 13 paralogues. Ubiquitous expression in bone marrow (RPKM 20.3), testis (RPKM 13.1) and 25 other tissues.

Summary

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]

MTMR3 Products(3)

mRNA	Protein	Name
NM_021090.4	NP_066576.1	myotubularin-related protein 3 isoform c
NM_153050.3	NP_694690.1	myotubularin-related protein 3 isoform a
NM_153051.3	NP_694691.1	myotubularin-related protein 3 isoform b

MTMR3 Protein Structure

Myotub-related

FYVE

0
200
400
600
800
1000
1198 a.a.

Protein Preferred Names

Protein Names

myotubularin-related protein 3

FYVE (Fab1 YGLO23 Vsp27 EEA1 domain) dual-specificity protein phosphatase

Related Diseases

Diseases

Alias

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7
NPHS7	Nephrotic Syndrome Type 7
Ig-Mediated Membranoproliferative Glomerulonephritis	Ig-Mediated Mpgn
Immunoglobulin-Mediated Mpgn	Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis
Hemolytic Uremic Syndrome, Atypical 7	Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis
Hemolytic Uremic Syndrome With Dgke Deficiency	Hus With Dgke Deficiency
Hemolytic Uremic Syndrome Atypical 7	AHUS7
Nephrotic Syndrome 7	Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Myopathy

Muscular Diseases

Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08790	MTMR3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MTMR3	MGD	MGI:1921552
Canis familiaris	MTMR3	VGNC	VGNC:43484
Felis catus	MTMR3	VGNC	VGNC:68347
Rattus norvegicus	MTMR3	RGD	RGD:1310972
Bos taurus	MTMR3	VGNC	VGNC:31742
Macaca mulatta	MTMR3	VGNC	VGNC:75074

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