Property Summary

NCBI Gene PubMed Count 9
PubMed Score 13.58
PubTator Score 4.33

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
23818870 Analysis of human XLMTM patient myotubes showed that mutations that disrupt the interaction between myotubularin and MTMR12 proteins result in reduction of both myotubularin and MTMR12
21451436 This study does not support the association of PDZD2, GOLPH3, and MTMR12 genes with schizophrenia.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
12847286 Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.

AA Sequence

MLGKGVVGGGGGTKAPKPSFVSYVRPEEIHTNEKEVTEKEVTLHLLPGEQLLCEASTVLKYVQEDSCQHG      1 - 70
VYGRLVCTDFKIAFLGDDESALDNDETQFKNKVIGENDITLHCVDQIYGVFDEKKKTLFGQLKKYPEKLI     71 - 140
IHCKDLRVFQFCLRYTKEEEVKRIVSGIIHHTQAPKLLKRLFLFSYATAAQNNTVTDPKNHTVMFDTLKD    141 - 210
WCWELERTKGNMKYKAVSVNEGYKVCERLPAYFVVPTPLPEENVQRFQGHGIPIWCWSCHNGSALLKMSA    211 - 280
LPKEQDDGILQIQKSFLDGIYKTIHRPPYEIVKTEDLSSNFLSLQEIQTAYSKFKQLFLIDNSTEFWDTD    281 - 350
IKWFSLLESSSWLDIIRRCLKKAIEITECMEAQNMNVLLLEENASDLCCLISSLVQLMMDPHCRTRIGFQ    351 - 420
SLIQKEWVMGGHCFLDRCNHLRQNDKEEVPVFLLFLDCVWQLVHQHPPAFEFTETYLTVLSDSLYIPIFS    421 - 490
TFFFNSPHQKDTNMGREGQDTQSKPLNLLTVWDWSVQFEPKAQTLLKNPLYVEKPKLDKGQRKGMRFKHQ    491 - 560
RQLSLPLTQSKSSPKRGFFREETDHLIKNLLGKRISKLINSSDELQDNFREFYDSWHSKSTDYHGLLLPH    561 - 630
IEGPEIKVWAQRYLRWIPEAQILGGGQVATLSKLLEMMEEVQSLQEKIDERHHSQQAPQAEAPCLLRNSA    631 - 700
RLSSLFPFALLQRHSSKPVLPTSGWKALGDEDDLAKREDEFVDLGDV                           701 - 747
//

Text Mined References (13)

PMID Year Title
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23818870 2013 Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21451436 2012 Mutation screening of PDZD2, GOLPH3, and MTMR12 genes in patients with schizophrenia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12847286 2003 Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP.
12495846 2002 PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease.
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