• Gene id: 23207

Gene Summary

• Gene Symbol: PLEKHM2   Gene   UCSC   Ensembl
• Aliases: SKIP
• Gene name: pleckstrin homology and RUN domain containing M2
• Alternate names: pleckstrin homology domain-containing family M member 2, PH domain-containing family M member 2, SifA (Salmonella-induced filaments A) and kinesin-interacting protein, novel RUN and PH domain-containing protein, pleckstrin homology domain containing, family M,
• Gene location: 1p36.21 (15681505: 15734768)     Exons: 22     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs t
• OMIM: 614169

Protein Summary

• Protein general information: Q8IWE5  
  • Name: Pleckstrin homology domain containing family M member 2 (PH domain containing family M member 2) (Salmonella induced filaments A and kinesin interacting protein) (SifA and kinesin interacting protein)
  • Length: 1019  
  • Mass: 112780
• Sequence:

  MEPGEVKDRILENISLSVKKLQSYFAACEDEIPAIRNHDKVLQRLCEHLDHALLYGLQDLSSGYWVLVVHFTRRE
  AIKQIEVLQHVATNLGRSRAWLYLALNENSLESYLRLFQENLGLLHKYYVKNALVCSHDHLTLFLTLVSGLEFIR
  FELDLDAPYLDLAPYMPDYYKPQYLLDFEDRLPSSVHGSDSLSLNSFNSVTSTNLEWDDSAIAPSSEDYDFGDVF
  PAVPSVPSTDWEDGDLTDTVSGPRSTASDLTSSKASTRSPTQRQNPFNEEPAETVSSSDTTPVHTTSQEKEEAQA
  LDPPDACTELEVIRVTKKKKIGKKKKSRSDEEASPLHPACSQKKCAKQGDGDSRNGSPSLGRDSPDTMLASPQEE
  GEGPSSTTESSERSEPGLLIPEMKDTSMERLGQPLSKVIDQLNGQLDPSTWCSRAEPPDQSFRTGSPGDAPERPP
  LCDFSEGLSAPMDFYRFTVESPSTVTSGGGHHDPAGLGQPLHVPSSPEAAGQEEEGGGGEGQTPRPLEDTTREAQ
  ELEAQLSLVREGPVSEPEPGTQEVLCQLKRDQPSPCLSSAEDSGVDEGQGSPSEMVHSSEFRVDNNHLLLLMIHV
  FRENEEQLFKMIRMSTGHMEGNLQLLYVLLTDCYVYLLRKGATEKPYLVEEAVSYNELDYVSVGLDQQTVKLVCT
  NRRKQFLLDTADVALAEFFLASLKSAMIKGCREPPYPSILTDATMEKLALAKFVAQESKCEASAVTVRFYGLVHW
  EDPTDESLGPTPCHCSPPEGTITKEGMLHYKAGTSYLGKEHWKTCFVVLSNGILYQYPDRTDVIPLLSVNMGGEQ
  CGGCRRANTTDRPHAFQVILSDRPCLELSAESEAEMAEWMQHLCQAVSKGVIPQGVAPSPCIPCCLVLTDDRLFT
  CHEDCQTSFFRSLGTAKLGDISAVSTEPGKEYCVLEFSQDSQQLLPPWVIYLSCTSELDRLLSALNSGWKTIYQV
  DLPHTAIQEASNKKKFEDALSLIHSAWQRSDSLCRGRASRDPWC

• Structural information:
  • Protein Domains: (36..15-)
    (/note="RUN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00178-)
    (771..87-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  IPR004012  IPR037213  
  • Prosite: PS50003 PS50826
  • PDB: 3CXB 3HW2 3ZFW
  • PDBsum: 3CXB 3HW2 3ZFW
  • DIP: 46410
  • STRING: ENSP00000364956
• Other Databases: GeneCards:  PLEKHM2  Malacards:  PLEKHM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032418	lysosome localization	IBA	biological process
GO:1903527	positive regulation of membrane tubulation	IBA	biological process
GO:0032880	regulation of protein localization	IBA	biological process
GO:0019894	kinesin binding	IBA	molecular function
GO:0010008	endosome membrane	IBA	cellular component
GO:0007030	Golgi organization	IBA	biological process
GO:0019894	kinesin binding	IDA	molecular function
GO:0032418	lysosome localization	IMP	biological process
GO:0007030	Golgi organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:1903527	positive regulation of membrane tubulation	IDA	biological process
GO:0032880	regulation of protein localization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq