| Type | Description |
|---|---|
| Definition | myotubularin related protein 2 |
| Date | Results | Publications |
|---|---|---|
| 2019-12-21 11:56:00 | Our findings suggest that MTMR2 is an important promoter in gastric cancer (GC) invasion and metastasis by inactivating signaling and may act as a new prognostic indicator and a potential therapeutic target for GC. | 31113461 |
| 2018-03-24 10:25:00 | report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review | 28190646 |
| 2018-01-27 11:46:00 | Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy. | 28934386 |
| 2017-07-22 11:19:00 | The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10, and is nearly ablated in Schwann cells by impairing SOX10 function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform | 27466180 |
| 2014-01-25 10:37:00 | we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings | 23781969 |
| Type | IDs |
|---|---|
| Synonymous | CMT4B, CMT4B1 |
| Gene |
UniProtKB-ID:
MTMR2_HUMAN,
A0A024R3B7_HUMAN
UniprotKB:
Q13614,
A0A024R3B7
UniParc:
UPI00001AF36F,
UPI00001FA217
EMBL:
BC052990,
AB028996,
AP000870,
AP001877,
AK302940,
CH471065,
U58033
Ensembl:
ENSG00000087053
KO:
hsa:8898
|
| Nucleutide sequences |
EMBL-CDS:
EAW66971.1,
BAG64098.1,
AAC79118.1,
AAH52990.1,
BAA83025.2,
EAW66974.1,
EAW66973.1
Gene_ORFName:
hCG_21453
Ensembl_TRS:
ENST00000346299,
ENST00000352297,
ENST00000409459,
ENST00000393223
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000345752,
ENSP00000343737,
ENSP00000386882,
ENSP00000376915
RefSeq:
XP_005274432.1,
NP_958435.1,
XP_005274431.1,
NP_057240.3,
NP_958438.1,
NP_001230500.1
|
| Others |
UniRef100:
UniRef100_Q13614
UniRef90:
UniRef90_Q13614
UniRef50:
UniRef50_Q13614
UniGene:
Hs.181326
CCDS:
CCDS8305.1,
CCDS8306.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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