Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23207
Gene name	Pleckstrin homology and RUN domain containing M2
Gene symbol	PLEKHM2
Synonyms (NCBI Gene)	SKIP
Chromosome	1
Chromosome location	1p36.21
Summary	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

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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
MIRT037519	hsa-miR-744-5p	CLASH	23622248
MIRT717203	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT717202	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT717201	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT717200	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT717199	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT717198	hsa-miR-4297	HITS-CLIP	19536157
MIRT717197	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717196	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT717195	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT717203	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT717202	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT717201	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT717200	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT717199	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT717198	hsa-miR-4297	HITS-CLIP	19536157
MIRT717197	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717196	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT717195	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT528199	hsa-miR-548as-3p	PAR-CLIP	22012620
MIRT528198	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT528197	hsa-miR-6776-3p	PAR-CLIP	22012620
MIRT528196	hsa-miR-6715a-3p	PAR-CLIP	22012620
MIRT528195	hsa-miR-3622a-3p	PAR-CLIP	22012620
MIRT528194	hsa-miR-3622b-3p	PAR-CLIP	22012620
MIRT528193	hsa-miR-4750-3p	PAR-CLIP	22012620
MIRT528192	hsa-miR-6859-3p	PAR-CLIP	22012620
MIRT528191	hsa-miR-6846-3p	PAR-CLIP	22012620
MIRT455336	hsa-miR-3125	PAR-CLIP	23592263
MIRT455334	hsa-miR-3916	PAR-CLIP	23592263
MIRT455333	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT455332	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT455331	hsa-miR-665	PAR-CLIP	23592263
MIRT455330	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT455329	hsa-miR-6077	PAR-CLIP	23592263
MIRT455328	hsa-miR-615-5p	PAR-CLIP	23592263
MIRT717203	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT717202	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT717201	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT717200	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT717199	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT717198	hsa-miR-4297	HITS-CLIP	19536157
MIRT717197	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717196	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT717195	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT717203	hsa-miR-4722-3p	HITS-CLIP	19536157
MIRT717202	hsa-miR-6727-3p	HITS-CLIP	19536157
MIRT717201	hsa-miR-6747-3p	HITS-CLIP	19536157
MIRT717200	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT717199	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT717198	hsa-miR-4297	HITS-CLIP	19536157
MIRT717197	hsa-miR-5581-5p	HITS-CLIP	19536157
MIRT717196	hsa-miR-3074-5p	HITS-CLIP	19536157
MIRT717195	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT528199	hsa-miR-548as-3p	PAR-CLIP	22012620
MIRT528198	hsa-miR-497-3p	PAR-CLIP	22012620
MIRT528197	hsa-miR-6776-3p	PAR-CLIP	22012620
MIRT528196	hsa-miR-6715a-3p	PAR-CLIP	22012620
MIRT528195	hsa-miR-3622a-3p	PAR-CLIP	22012620
MIRT528194	hsa-miR-3622b-3p	PAR-CLIP	22012620
MIRT528193	hsa-miR-4750-3p	PAR-CLIP	22012620
MIRT528192	hsa-miR-6859-3p	PAR-CLIP	22012620
MIRT528191	hsa-miR-6846-3p	PAR-CLIP	22012620
MIRT455336	hsa-miR-3125	PAR-CLIP	23592263
MIRT455334	hsa-miR-3916	PAR-CLIP	23592263
MIRT455333	hsa-miR-6859-5p	PAR-CLIP	23592263
MIRT455332	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT455331	hsa-miR-665	PAR-CLIP	23592263
MIRT455330	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT455329	hsa-miR-6077	PAR-CLIP	23592263
MIRT455328	hsa-miR-615-5p	PAR-CLIP	23592263
MIRT1242452	hsa-miR-1207-5p	CLIP-seq
MIRT1242453	hsa-miR-1268	CLIP-seq
MIRT1242454	hsa-miR-1268b	CLIP-seq
MIRT1242455	hsa-miR-1286	CLIP-seq
MIRT1242456	hsa-miR-1538	CLIP-seq
MIRT1242457	hsa-miR-2467-3p	CLIP-seq
MIRT1242458	hsa-miR-3169	CLIP-seq
MIRT1242459	hsa-miR-3184	CLIP-seq
MIRT1242460	hsa-miR-3197	CLIP-seq
MIRT1242461	hsa-miR-324-5p	CLIP-seq
MIRT1242462	hsa-miR-3678-3p	CLIP-seq
MIRT1242463	hsa-miR-3945	CLIP-seq
MIRT1242464	hsa-miR-423-5p	CLIP-seq
MIRT1242465	hsa-miR-4253	CLIP-seq
MIRT1242466	hsa-miR-4265	CLIP-seq
MIRT1242467	hsa-miR-4296	CLIP-seq
MIRT1242468	hsa-miR-4318	CLIP-seq
MIRT1242469	hsa-miR-4322	CLIP-seq
MIRT1242470	hsa-miR-4417	CLIP-seq
MIRT1242471	hsa-miR-4436b-3p	CLIP-seq
MIRT1242472	hsa-miR-4514	CLIP-seq
MIRT1242473	hsa-miR-4692	CLIP-seq
MIRT1242474	hsa-miR-4745-3p	CLIP-seq
MIRT1242475	hsa-miR-4747-3p	CLIP-seq
MIRT1242476	hsa-miR-4763-3p	CLIP-seq
MIRT1242477	hsa-miR-4779	CLIP-seq
MIRT1242478	hsa-miR-517b	CLIP-seq
MIRT1242479	hsa-miR-658	CLIP-seq
MIRT1242480	hsa-miR-765	CLIP-seq
MIRT1242481	hsa-miR-940	CLIP-seq
MIRT2071508	hsa-miR-149	CLIP-seq
MIRT2071509	hsa-miR-2861	CLIP-seq
MIRT2071510	hsa-miR-3202	CLIP-seq
MIRT2071511	hsa-miR-4512	CLIP-seq
MIRT2071512	hsa-miR-4755-3p	CLIP-seq
MIRT2071513	hsa-miR-490-5p	CLIP-seq
MIRT2071514	hsa-miR-766	CLIP-seq
MIRT2298728	hsa-miR-221	CLIP-seq
MIRT2298729	hsa-miR-222	CLIP-seq
MIRT2298730	hsa-miR-3126-3p	CLIP-seq
MIRT2298731	hsa-miR-4438	CLIP-seq
MIRT2298732	hsa-miR-5095	CLIP-seq
MIRT2298733	hsa-miR-548v	CLIP-seq
MIRT2298730	hsa-miR-3126-3p	CLIP-seq
MIRT2595636	hsa-miR-4707-3p	CLIP-seq
MIRT2298730	hsa-miR-3126-3p	CLIP-seq
MIRT2595636	hsa-miR-4707-3p	CLIP-seq

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
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IMP	15905402
GO:0010008	Component	Endosome membrane	IBA
GO:0010008	Component	Endosome membrane	IDA	18996344
GO:0016020	Component	Membrane	IEA
GO:0019894	Function	Kinesin binding	IBA
GO:0019894	Function	Kinesin binding	IDA	15905402
GO:0032418	Process	Lysosome localization	IBA
GO:0032418	Process	Lysosome localization	IDA	28325809
GO:0032418	Process	Lysosome localization	IMP	22172677, 25898167
GO:0032880	Process	Regulation of protein localization	IBA
GO:0032880	Process	Regulation of protein localization	IMP	18787122
GO:0042267	Process	Natural killer cell mediated cytotoxicity	IMP	24088571

MIM	HGNC	e!Ensembl
609613	29131	ENSG00000116786

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

	KEGG
	Salmonella infection

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Recessive	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR NONCOMPACTION	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLEKHM2-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Cardiomyopathy Dilated	Associate	26464484, 36555735, 37349842	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	34088011	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	36555735	★★★★★ ★☆☆☆☆ Found in Text Mining only
Death	Associate	36555735	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Associate	26464484	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Associate	36555735	★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated Noncompaction of the Ventricular Myocardium	Associate	36555735, 37349842	★★★★★ ★☆☆☆☆ Found in Text Mining only
Noncompaction of Left Ventricular Myocardium Familial Isolated Autosomal Dominant 1	Associate	26464484	★★★★★ ★☆☆☆☆ Found in Text Mining only

PLEKHM2 (pleckstrin homology and RUN domain containing M2)