PLEKHM2 (pleckstrin homology and RUN domain containing M2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23207
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin homology and RUN domain containing M2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEKHM2
Synonyms (NCBI Gene) Gene synonyms aliases
SKIP
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.21
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(123)
miRTarBase ID miRNA Experiments Reference
MIRT023088 hsa-miR-124-3p Microarray 18668037
MIRT051236 hsa-miR-16-5p CLASH 23622248
MIRT037875 hsa-miR-455-3p CLASH 23622248
MIRT037875 hsa-miR-455-3p CLASH 23622248
MIRT037519 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15905402, 18787122, 18996344, 22172677, 23519214, 25898167, 28325809
GO:0005737 Component Cytoplasm IEA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IDA 22172677
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609613 29131 ENSG00000116786
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8IWE5
Protein 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)
Protein function Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B. Required for ARL8B to exert its effects on lysosome location, recruits kinesin-1 to lysosomes and hence direct their movement toward microt
PDB 3CXB , 3HW2 , 3ZFW , 8JCA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02759 RUN 41 → 157 RUN domain Family
PF00169 PH 772 → 873 PH domain Domain
Sequence 
MEPGEVKDRILENISLSVKKLQSYFAACEDEIPAIRNHDKVLQRLCEHLDHALLYGLQDL
SSGYWVLVVHFTRREAIKQIEVLQHVATNLGRSRAWLYLALNENSLESYLRLFQENLGLL
HKYYVKNALVCSHDHLTLFLTLVSGLEFIRFELDLDAPYLDLAPYMPDYYKPQYLLDFED
RLPSSVHGSDSLSLNSFNSVTSTNLEWDDSAIAPSSEDYDFGDVFPAVPSVPSTDWEDGD
LTDTVSGPRSTASDLTSSKASTRSPTQRQNPFNEEPAETVSSSDTTPVHTTSQEKEEAQA
LDPPDACTELEVIRVTKKKKIGKKKKSRSDEEASPLHPACSQKKCAKQGDGDSRNGSPSL
GRDSPDTMLASPQEEGEGPSSTTESSERSEPGLLIPEMKDTSMERLGQPLSKVIDQLNGQ
LDPSTWCSRAEPPDQSFRTGSPGDAPERPPLCDFSEGLSAPMDFYRFTVESPSTVTSGGG
HHDPAGLGQPLHVPSSPEAAGQEEEGGGGEGQTPRPLEDTTREAQELEAQLSLVREGPVS
EPEPGTQEVLCQLKRDQPSPCLSSAEDSGVDEGQGSPSEMVHSSEFRVDNNHLLLLMIHV
FRENEEQLFKMIRMSTGHMEGNLQLLYVLLTDCYVYLLRKGATEKPYLVEEAVSYNELDY
VSVGLDQQTVKLVCTNRRKQFLLDTADVALAEFFLASLKSAMIKGCREPPYPSILTDATM
EKLALAKFVAQESKCEASAVTVRFYGLVHWEDPTDESLGPTPCHCSPPEGTITKEGMLHY
KAGTSYLGKEHWKTCFVVLSNGILYQYPDRTDVIPLLSVNMGGEQCGGCRRANTTDRPHA
FQVILSDRPCLELSAESEAEMAEWMQHLCQAVSKGVIPQGVAPSPCIPCCLVLTDDRLFT
CHEDCQTSFFRSLGTAKLGDISAVSTEPGKEYCVLEFSQDSQQLLPPWVIYLSCTSELDR
LLSALNSGWKTIYQVDLPHTAIQEASNKKKFEDALSLIHSAWQRSDSLCRGRASRDPWC
Sequence length 1019
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Salmonella infection  
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Dilated Cardiomyopathy Dilated Cardiomyopathy, Recessive N/A N/A ClinVar
Insomnia Insomnia N/A N/A GWAS
Myopathy dilated cardiomyopathy N/A N/A GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathy Dilated Associate 26464484, 36555735, 37349842
Cardiomyopathy Dilated with Left Ventricular Noncompaction Associate 34088011
Cognition Disorders Associate 36555735
Death Associate 36555735
Heart Diseases Associate 26464484
Heart Failure Associate 36555735
Isolated Noncompaction of the Ventricular Myocardium Associate 36555735, 37349842
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1 Associate 26464484