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PLEKHM2 pleckstrin homology and RUN domain containing M2 [ Homo sapiens (human) ]

Gene ID: 23207, updated on 17-Jun-2019

Summary

Official Symbol
PLEKHM2provided by HGNC
Official Full Name
pleckstrin homology and RUN domain containing M2provided by HGNC
Primary source
HGNC:HGNC:29131
See related
Ensembl:ENSG00000116786 MIM:609613
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SKIP
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]
Expression
Ubiquitous expression in bone marrow (RPKM 21.8), testis (RPKM 21.5) and 25 other tissues See more
Orthologs

Genomic context

See PLEKHM2 in Genome Data Viewer
Location:
1p36.21
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (15681506..15734769)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (16010632..16061264)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CD24 molecule pseudogene 1 Neighboring gene DNA damage inducible 1 homolog 2 Neighboring gene regulator of solute carriers 1 Neighboring gene SLC25A34 and TMEM82 antisense RNA 1 Neighboring gene solute carrier family 25 member 34 Neighboring gene transmembrane protein 82

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Salmonella infection, organism-specific biosystem (from KEGG)
    Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Salmonella infection, conserved biosystem (from KEGG)
    Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0842

Gene Ontology Provided by GOA

Function Evidence Code Pubs
kinesin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
kinesin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosome localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of membrane tubulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of membrane tubulation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pleckstrin homology domain-containing family M member 2
Names
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 (with RUN domain) member 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053033.1 RefSeqGene

    Range
    7798..58264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015164.4NP_055979.2  pleckstrin homology domain-containing family M member 2

    See identical proteins and their annotated locations for NP_055979.2

    Status: REVIEWED

    Source sequence(s)
    AB020649, AL121992, BC040441, HY056873
    Consensus CDS
    CCDS44063.1
    UniProtKB/Swiss-Prot
    Q8IWE5
    Related
    ENSP00000364956.3, ENST00000375799.8
    Conserved Domains (3) summary
    smart00593
    Location:93156
    RUN; domain involved in Ras-like GTPase signaling
    cd13309
    Location:773875
    PH_SKIP; SifA and kinesin-interacting protein Pleckstrin homology (PH) domain
    pfam00169
    Location:772873
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    15681506..15734769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000757.1XP_016856246.1  pleckstrin homology domain-containing family M member 2 isoform X1

  2. XM_017000758.1XP_016856247.1  pleckstrin homology domain-containing family M member 2 isoform X2

  3. XM_005245790.4XP_005245847.1  pleckstrin homology domain-containing family M member 2 isoform X3

    UniProtKB/TrEMBL
    Q5VVD7
    Related
    ENSP00000364950.2, ENST00000375793.2
    Conserved Domains (3) summary
    smart00593
    Location:93156
    RUN; domain involved in Ras-like GTPase signaling
    cd13309
    Location:753855
    PH_SKIP; SifA and kinesin-interacting protein Pleckstrin homology (PH) domain
    pfam00169
    Location:752853
    PH; PH domain
  4. XM_005245791.4XP_005245848.1  pleckstrin homology domain-containing family M member 2 isoform X4

    Conserved Domains (2) summary
    cd13309
    Location:570672
    PH_SKIP; SifA and kinesin-interacting protein Pleckstrin homology (PH) domain
    pfam00169
    Location:569670
    PH; PH domain
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