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  4. Pleckstrin homology domain-containing family M member 2

Tbio Pleckstrin homology domain-containing family M member 2

May play a role in the regulation of conventional kinesin activity. Required for maintenance of the Golgi apparatus organization. May play a role in membrane tubulation (PubMed:15905402). May play a role in lysosomes movement and localization at the cell periphery (PubMed:25898167).

 Comments

Property Summary

NCBI Gene PubMed Count 7
PubMed Score 2.68
PubTator Score 19.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (5)

Disease Z-score Confidence
Left ventricular noncompaction 23 4.655 2.3
group 3 medulloblastoma 2,254
medulloblastoma, large-cell 6,234
posterior fossa group B ependymoma 1,530
psoriasis 6,685

Expression

  Differential Expression (4)

Disease log2 FC p
psoriasis 2.500 0.000
group 3 medulloblastoma -1.300 0.000
medulloblastoma, large-cell -1.200 0.000
posterior fossa group B ependymoma -1.100 0.000

Synonym

Accession Q8IWE5 O94928 Q5VT65 Q6NUH9 Q7L8G1 Q8IVT7 Q8N2T4 Q96AY0 Q9NTF7 PH domain-containing family M member 2
Symbols SKIP

Gene

PLEKHM2

PANTHER Protein Class (1)

PDB

3CXB   3HW2   3ZFW  

 GO Function (1)

 GO Component (1)

 GO Process (4)

 Compartment GO Term (25)

See all...

 IMPC Term (5)

 MGI Term (5)

Pathway (2)

 UniProt Keyword (7)

Gene RIF (3)

PMID Text
26464484 The association of PLEKHM2 mutation with dilated cardiomyopathy and left ventricular noncompaction supports the importance of autophagy for normal cardiac function.
19460752 Knockdown of pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells
15905402 A dynamic process of kinesin recruitment in Salmonella-infected cells is down-regulated by the SifA-mediated recruitment of SKIP on membranes [SKIP]

AA Sequence 

MEPGEVKDRILENISLSVKKLQSYFAACEDEIPAIRNHDKVLQRLCEHLDHALLYGLQDLSSGYWVLVVH      1 - 70
FTRREAIKQIEVLQHVATNLGRSRAWLYLALNENSLESYLRLFQENLGLLHKYYVKNALVCSHDHLTLFL     71 - 140
TLVSGLEFIRFELDLDAPYLDLAPYMPDYYKPQYLLDFEDRLPSSVHGSDSLSLNSFNSVTSTNLEWDDS    141 - 210
AIAPSSEDYDFGDVFPAVPSVPSTDWEDGDLTDTVSGPRSTASDLTSSKASTRSPTQRQNPFNEEPAETV    211 - 280
SSSDTTPVHTTSQEKEEAQALDPPDACTELEVIRVTKKKKIGKKKKSRSDEEASPLHPACSQKKCAKQGD    281 - 350
GDSRNGSPSLGRDSPDTMLASPQEEGEGPSSTTESSERSEPGLLIPEMKDTSMERLGQPLSKVIDQLNGQ    351 - 420
LDPSTWCSRAEPPDQSFRTGSPGDAPERPPLCDFSEGLSAPMDFYRFTVESPSTVTSGGGHHDPAGLGQP    421 - 490
LHVPSSPEAAGQEEEGGGGEGQTPRPLEDTTREAQELEAQLSLVREGPVSEPEPGTQEVLCQLKRDQPSP    491 - 560
CLSSAEDSGVDEGQGSPSEMVHSSEFRVDNNHLLLLMIHVFRENEEQLFKMIRMSTGHMEGNLQLLYVLL    561 - 630
TDCYVYLLRKGATEKPYLVEEAVSYNELDYVSVGLDQQTVKLVCTNRRKQFLLDTADVALAEFFLASLKS    631 - 700
AMIKGCREPPYPSILTDATMEKLALAKFVAQESKCEASAVTVRFYGLVHWEDPTDESLGPTPCHCSPPEG    701 - 770
TITKEGMLHYKAGTSYLGKEHWKTCFVVLSNGILYQYPDRTDVIPLLSVNMGGEQCGGCRRANTTDRPHA    771 - 840
FQVILSDRPCLELSAESEAEMAEWMQHLCQAVSKGVIPQGVAPSPCIPCCLVLTDDRLFTCHEDCQTSFF    841 - 910
RSLGTAKLGDISAVSTEPGKEYCVLEFSQDSQQLLPPWVIYLSCTSELDRLLSALNSGWKTIYQVDLPHT    911 - 980
AIQEASNKKKFEDALSLIHSAWQRSDSLCRGRASRDPWC                                   981 - 1019
//

Text Mined References (14)

PMID Year Title
26464484 2015 PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
25898167 2015 BORC, a multisubunit complex that regulates lysosome positioning.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
18996344 2008 Structure and function of Salmonella SifA indicate that its interactions with SKIP, SseJ, and RhoA family GTPases induce endosomal tubulation.
18787122 2008 The Salmonella virulence protein SifA is a G protein antagonist.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
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