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PLEKHM2 - pleckstrin homology and RUN domain containing M2 Gene

Also Known as SKIP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23207

About PLEKHM2

Cytogenetic location: 1p36.21 Genomic coordinates (GRCh38): 1:15,681,506-15,734,769 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues, 13 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 21.8), testis (RPKM 21.5) and 25 other tissues.

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 to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired Autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]

PLEKHM2 Products (2)

mRNA	Protein	Name
NM_001410755.1	NP_001397684.1	pleckstrin homology domain-containing family M member 2 isoform 2
NM_015164.4	NP_055979.2	pleckstrin homology domain-containing family M member 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables kinesin binding	IDA IDA: Inferred from direct assay	15905402	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15905402	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	15905402	GOA
involved in lysosome localization	IDA IDA: Inferred from direct assay	28325809	GOA
involved in lysosome localization	IMP IMP: Inferred from mutant phenotype	22172677	GOA
involved in natural killer cell mediated cytotoxicity	IMP IMP: Inferred from mutant phenotype	24088571	GOA
involved in regulation of protein localization	IMP IMP: Inferred from mutant phenotype	18787122	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endosome membrane	IDA IDA: Inferred from direct assay	18996344	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	22172677	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLEKHM2 Protein Structure

RUN

0
200
400
600
800
1019 a.a.

Protein Preferred Names	Protein Names
pleckstrin homology domain-containing family M member 2	PH domain-containing family M member 2

PLEKHM2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	PLEKHM2	Q8IWE5	sifA	Salmonella typhimurium	Q56061	X-Ray Diffraction	18996344
Cross	PLEKHM2	Q8IWE5	sifA	Salmonella typhimurium	Q56061	Pull Down	18787122
Intra	PLEKHM2	Q8IWE5	RAB9A	Homo sapiens	P51151	Pull Down	18787122
Cross	PLEKHM2	Q8IWE5	Klc2	Mus musculus	Q91YS4	FPS	23519214
Cross	PLEKHM2	Q8IWE5	Klc2	Mus musculus	Q91YS4	Anti Tag CoIP	23519214
Cross	PLEKHM2	Q8IWE5	sifA	Salmonella typhimurium	A0A0F6B063	Anti Tag CoIP	18996344
Cross	PLEKHM2	Q8IWE5	sifA	Salmonella typhimurium	A0A0F6B063	ITC	18996344

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10698	PLEKHM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PLEKHM2	VGNC	VGNC:44684
Macaca mulatta	PLEKHM2	VGNC	VGNC:76131
Bos taurus	PLEKHM2	VGNC	VGNC:33024
Felis catus	PLEKHM2	VGNC	VGNC:64236
Mus musculus	PLEKHM2	MGD	MGI:1916832
Rattus norvegicus	PLEKHM2	RGD	RGD:1307005
Others	PLEKHM2	NCBI