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MTMR4 (Myotubularin Related Protein 4) is a Protein Coding gene. Diseases associated with MTMR4 include Mulibrey Nanism and Myopathy, Centronuclear, X-Linked. Among its related pathways are Signaling by GPCR and Inositol phosphate metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004438 | phosphatidylinositol-3-phosphatase activity | IBA | 21873635 |
GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
GO:0004722 | protein serine/threonine phosphatase activity | IEA,TAS | -- |
GO:0004725 | protein tyrosine phosphatase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 20061380 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | HDA | 22664934 |
GO:0005737 | cytoplasm | IEA,IBA | 21873635 |
GO:0005768 | endosome | IDA | 16787938 |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA,IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | PI Metabolism |
.63
|
|
3 | Inositol phosphate metabolism (KEGG) | ||
4 | TGF-beta receptor signaling activates SMADs | ||
5 | Autophagy - animal |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006470 | protein dephosphorylation | IEA,TAS | 9736772 |
GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
GO:0007179 | transforming growth factor beta receptor signaling pathway | IEA | -- |
GO:0010506 | regulation of autophagy | IBA | 21873635 |
GO:0014894 | response to denervation involved in regulation of muscle adaptation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Phosphate |
|
14066-19-4, 14265-44-2 |
|
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 19b | · | 19c | · | 19d |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MTMR4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MTMR4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mtmr4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mtmr4 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MTMR4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MTMR4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MTMR4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MTMR4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MTMR4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mtmr4 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:63645 30 |
|
||
MTMR4 31 |
|
OneToOne | |||
zgc63645 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3632 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | T24A11.1a 32 |
|
|
|
T24A11.1b 32 |
|
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
779457 | Benign: not provided | 58,495,103(-) | T/A | SYNONYMOUS_VARIANT | |
779458 | Benign: not provided | 58,508,178(-) | A/G | SYNONYMOUS_VARIANT | |
779459 | Benign: not provided | 58,508,751(-) | A/G | SYNONYMOUS_VARIANT | |
rs2302189 | - | p.Val297Gly | |||
rs2302190 | - | p.Ser280Gly |
Disorder | Aliases | PubMed IDs |
---|---|---|
mulibrey nanism |
|
|
myopathy, centronuclear, x-linked |
|
|
hydranencephaly |
|
|
centronuclear myopathy |
|
|