Aliases for PLEKHM3 Gene

Aliases for PLEKHM3 Gene

  • Pleckstrin Homology Domain Containing M3 2 3 5
  • Differentiation Associated Protein 2 3 4
  • Pleckstrin Homology Domain-Containing Family M Member 3 3 4
  • PH Domain-Containing Family M Member 3 3 4
  • PLEKHM1L 3 4
  • DAPR 3 4
  • Pleckstrin Homology Domain Containing, Family M, Member 1-Like 2
  • Pleckstrin Homology Domain Containing, Family M, Member 3 2

External Ids for PLEKHM3 Gene

Previous HGNC Symbols for PLEKHM3 Gene

  • PLEKHM1L

Previous GeneCards Identifiers for PLEKHM3 Gene

  • GC02M208402
  • GC02M208687
  • GC02M200528

Summaries for PLEKHM3 Gene

GeneCards Summary for PLEKHM3 Gene

PLEKHM3 (Pleckstrin Homology Domain Containing M3) is a Protein Coding gene. Diseases associated with PLEKHM3 include Endocardium Disease. An important paralog of this gene is PLEKHM1.

UniProtKB/Swiss-Prot Summary for PLEKHM3 Gene

  • Involved in skeletal muscle differentiation. May act as a scaffold protein for AKT1 during muscle differentiation.

Additional gene information for PLEKHM3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLEKHM3 Gene

Genomics for PLEKHM3 Gene

GeneHancer (GH) Regulatory Elements for PLEKHM3 Gene

Promoters and enhancers for PLEKHM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J208024 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +15.3 15271 2.6 RXRA EP300 FOXK2 ZBTB40 ZNF217 SIN3A MYC TCF12 POLR2G SP1 PLEKHM3 CREB1 KLF7-IT1 FZD5 RF00026-613 RNU6-360P piR-60229-002
GH02J208039 Enhancer 0.9 Ensembl ENCODE 500.7 +0.2 239 2.2 CTCF ZSCAN5C TEAD4 ZNF623 RAD21 TRIM22 ZBTB26 SMC3 HDAC2 RBM25 PLEKHM3 FZD5 RNU6-360P METTL21A CCNYL1 ENSG00000185078 RPL9P14
GH02J207973 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 28.1 +65.3 65339 3.5 CTCF REST ZBTB25 RAD21 TRIM22 SMC3 ZNF316 MAFF MAFK CEBPB PLEKHM3 FZD5 METTL21A CCNYL1 CREB1 PIKFYVE RF01061-096 ENSG00000225111
GH02J207762 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +272.6 272645 10 HNRNPK ZBTB40 ZNF217 CTCF SIN3A TCF12 MYC POLR2G USF1 NCOR1 FZD5 CREB1 KLF7-IT1 METTL21A PLEKHM3 MIR4775
GH02J207710 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.5 +328.1 328086 3.8 ZNF217 SIN3A NRF1 TCF12 POLR2G USF1 SP1 NCOR1 PHF8 FOS CCNYL1 lnc-FZD5-5 METTL21A FZD5 PLEKHM3 piR-35674-300
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLEKHM3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLEKHM3

Top Transcription factor binding sites by QIAGEN in the PLEKHM3 gene promoter:
  • aMEF-2
  • AML1a
  • C/EBPalpha
  • GATA-6
  • HOXA3
  • IRF-1
  • MEF-2A
  • NF-1
  • Pax-2a
  • Pax-2b

Genomic Locations for PLEKHM3 Gene

Genomic Locations for PLEKHM3 Gene
chr2:207,821,288-208,040,372
(GRCh38/hg38)
Size:
219,085 bases
Orientation:
Minus strand
chr2:208,686,012-208,890,284
(GRCh37/hg19)
Size:
204,273 bases
Orientation:
Minus strand

Genomic View for PLEKHM3 Gene

Genes around PLEKHM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHM3 Gene

Proteins for PLEKHM3 Gene

  • Protein details for PLEKHM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZWE6-PKHM3_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family M member 3
    Protein Accession:
    Q6ZWE6
    Secondary Accessions:
    • B9EKV2
    • Q8WW68

    Protein attributes for PLEKHM3 Gene

    Size:
    761 amino acids
    Molecular mass:
    87166 Da
    Quaternary structure:
    • Interacts with AKT1.
    SequenceCaution:
    • Sequence=BAC85557.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PLEKHM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHM3 Gene

Post-translational modifications for PLEKHM3 Gene

  • Ubiquitination at Lys92
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PLEKHM3 Gene

Domains & Families for PLEKHM3 Gene

Gene Families for PLEKHM3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PLEKHM3 Gene

Blocks:
  • Pleckstrin-like
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PLEKHM3 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family M member 3 (PKHM3_HUMAN)
genes like me logo Genes that share domains with PLEKHM3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLEKHM3 Gene

Function for PLEKHM3 Gene

Molecular function for PLEKHM3 Gene

UniProtKB/Swiss-Prot Function:
Involved in skeletal muscle differentiation. May act as a scaffold protein for AKT1 during muscle differentiation.

Phenotypes From GWAS Catalog for PLEKHM3 Gene

Gene Ontology (GO) - Molecular Function for PLEKHM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PLEKHM3: view
genes like me logo Genes that share phenotypes with PLEKHM3: view

miRNA for PLEKHM3 Gene

miRTarBase miRNAs that target PLEKHM3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHM3 Gene

Localization for PLEKHM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHM3 Gene

Cytoplasm. Golgi apparatus. Cell membrane. Note=Before differentiation of muscle cells, localized to the Golgi apparatus. During muscle differentiation shuttles to the plasma membrane. {ECO:0000250 UniProtKB:Q8BM47}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLEKHM3 gene
Compartment Confidence
plasma membrane 4
golgi apparatus 4
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEKHM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PLEKHM3: view

Pathways & Interactions for PLEKHM3 Gene

PathCards logo

SuperPathways for PLEKHM3 Gene

No Data Available

Interacting Proteins for PLEKHM3 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 9)
STRING Interaction Network
Selected Interacting proteins: ENSP00000417003 Q6ZWE6-PKHM3_HUMAN for PLEKHM3 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for PLEKHM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045445 myoblast differentiation ISS,IEA --
genes like me logo Genes that share ontologies with PLEKHM3: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHM3 Gene

Drugs & Compounds for PLEKHM3 Gene

(4) Additional Compounds for PLEKHM3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-arachidonyl-3-behenoyl-sn-glycerol
  • DAG(42:0)
  • Diacylglycerol(20:0/0:0/22:0)
  • DG(42:0)
  • Diglyceride
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with PLEKHM3: view

Transcripts for PLEKHM3 Gene

mRNA/cDNA for PLEKHM3 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHM3 Gene

No ASD Table

Relevant External Links for PLEKHM3 Gene

GeneLoc Exon Structure for
PLEKHM3

Expression for PLEKHM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLEKHM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLEKHM3

SOURCE GeneReport for Unigene cluster for PLEKHM3 Gene:

Hs.159188

Evidence on tissue expression from TISSUES for PLEKHM3 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PLEKHM3: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHM3 Gene

Orthologs for PLEKHM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHM3 31 30
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHM3 31 30
  • 90.93 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHM3 31 30
  • 88.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhm3 30
  • 88.33 (n)
mouse
(Mus musculus)
Mammalia Plekhm3 17 31 30
  • 87.89 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHM3 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 17 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PLEKHM3 31 30
  • 73.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHM3 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhm3 30
  • 66.17 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7874 30
zebrafish
(Danio rerio)
Actinopterygii plekhm3 31 30
  • 58.27 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6613 31
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y51H1A.2 31
  • 16 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.897 31
  • 37 (a)
OneToMany
Species where no ortholog for PLEKHM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLEKHM3 Gene

ENSEMBL:
Gene Tree for PLEKHM3 (if available)
TreeFam:
Gene Tree for PLEKHM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PLEKHM3: view image

Paralogs for PLEKHM3 Gene

Paralogs for PLEKHM3 Gene

(2) SIMAP similar genes for PLEKHM3 Gene using alignment to 3 proteins:

  • PKHM3_HUMAN
  • C9J119_HUMAN
  • H7C0J9_HUMAN
genes like me logo Genes that share paralogs with PLEKHM3: view

Variants for PLEKHM3 Gene

Additional dbSNP identifiers (rs#s) for PLEKHM3 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLEKHM3 Gene

Variant ID Type Subtype PubMed ID
esv2664003 CNV deletion 23128226
esv3584289 CNV loss 25503493
esv3584290 CNV loss 25503493
esv3594100 CNV loss 21293372
esv3594101 CNV loss 21293372
nsv520066 CNV loss 19592680
nsv527843 CNV loss 19592680

Variation tolerance for PLEKHM3 Gene

Residual Variation Intolerance Score: 62.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHM3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHM3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLEKHM3 Gene

Disorders for PLEKHM3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHM3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
endocardium disease
  • abnormality of the endocardium
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHM3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLEKHM3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHM3 Gene

Publications for PLEKHM3 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Identification and characterization of a novel gene, dapr, involved in skeletal muscle differentiation and protein kinase B signaling. (PMID: 19028694) Virtanen C … Takahashi M (The Journal of biological chemistry 2009) 2 3 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for PLEKHM3 Gene

Sources for PLEKHM3 Gene