PLEKHM2 - pleckstrin homology and RUN domain containing M2 Gene

Homo sapiens

Also known as SKIP

Gene ID: 23207 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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