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Aliases for PLEKHH2 Gene

Aliases for PLEKHH2 Gene

  • Pleckstrin Homology, MyTH4 And FERM Domain Containing H2 2 3 5
  • Pleckstrin Homology Domain Containing, Family H (With MyTH4 Domain) Member 2 2 3
  • Pleckstrin Homology Domain-Containing Family H Member 2 3
  • PLEKHH1L 3
  • KIAA2028 4

External Ids for PLEKHH2 Gene

Previous GeneCards Identifiers for PLEKHH2 Gene

  • GC02P043776
  • GC02P043864

Summaries for PLEKHH2 Gene

GeneCards Summary for PLEKHH2 Gene

PLEKHH2 (Pleckstrin Homology, MyTH4 And FERM Domain Containing H2) is a Protein Coding gene. Diseases associated with PLEKHH2 include Focal Segmental Glomerulosclerosis. Gene Ontology (GO) annotations related to this gene include identical protein binding and actin binding. An important paralog of this gene is PLEKHH1.

UniProtKB/Swiss-Prot for PLEKHH2 Gene

  • In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia.

Additional gene information for PLEKHH2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLEKHH2 Gene

Genomics for PLEKHH2 Gene

GeneHancer (GH) Regulatory Elements for PLEKHH2 Gene

Promoters and enhancers for PLEKHH2 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
GH02I043636 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 558 +0.4 374 1.9 PKNOX1 ATF1 SIN3A ZNF48 GLIS2 FOS ATF7 SP3 SP5 NFYC PLEKHH2 C1GALT1C1L
GH02I043209 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 38.2 -426.3 -426300 2 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B DMAP1 ZNF766 MCM3 SP5 RNU6-1048P PLEKHH2 THADA OXER1 DYNC2LI1 ZFP36L2 C1GALT1C1L LINC02580 GC02P042660
GH02I043216 Promoter/Enhancer 3.2 VISTA UCNEbase EPDnew Ensembl ENCODE dbSUPER 15.2 -414.0 -413988 13 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC ZFP36L2 THADA RNU6-1048P PLEKHH2 ENSG00000234936 LINC01126 LINC02580 GC02P042660
GH02I043024 Enhancer 1.3 Ensembl ENCODE dbSUPER 16.9 -611.2 -611153 3.8 HDGF ARNT ZNF133 ARID4B ZNF48 ZNF121 ARID2 ZNF143 RXRA NCOA1 PLEKHH2 RNU6-242P COX7A2L LINC01819 GC02M043009 GC02P042853 GC02P042660
GH02I042967 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.6 -668.5 -668458 3.5 HDGF SMAD1 ATF1 FOXA2 ARNT POLR2B ZNF766 GATA2 FOS ATF7 RNU6-1048P PLEKHH2 THADA GC02M042943 ENSG00000224739 GC02P042853 LOC105374567 GC02P042660
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLEKHH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLEKHH2 gene promoter:

Genomic Locations for PLEKHH2 Gene

Genomic Locations for PLEKHH2 Gene
chr2:43,637,273-43,767,987
(GRCh38/hg38)
Size:
130,715 bases
Orientation:
Plus strand
chr2:43,864,412-43,995,126
(GRCh37/hg19)

Genomic View for PLEKHH2 Gene

Genes around PLEKHH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLEKHH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLEKHH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLEKHH2 Gene

Proteins for PLEKHH2 Gene

  • Protein details for PLEKHH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVE3-PKHH2_HUMAN
    Recommended name:
    Pleckstrin homology domain-containing family H member 2
    Protein Accession:
    Q8IVE3
    Secondary Accessions:
    • Q5JPJ6
    • Q6P4Q1
    • Q8N3Q3

    Protein attributes for PLEKHH2 Gene

    Size:
    1493 amino acids
    Molecular mass:
    168229 Da
    Quaternary structure:
    • Self-associates. Interacts with TGFB1I1 (By similarity).

    Alternative splice isoforms for PLEKHH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLEKHH2 Gene

Post-translational modifications for PLEKHH2 Gene

No Post-translational modifications

Other Protein References for PLEKHH2 Gene

No data available for DME Specific Peptides for PLEKHH2 Gene

Domains & Families for PLEKHH2 Gene

Gene Families for PLEKHH2 Gene

Suggested Antigen Peptide Sequences for PLEKHH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PLEKHH2: view

No data available for UniProtKB/Swiss-Prot for PLEKHH2 Gene

Function for PLEKHH2 Gene

Molecular function for PLEKHH2 Gene

UniProtKB/Swiss-Prot Function:
In the kidney glomerulus may play a role in linking podocyte foot processes to the glomerular basement membrane. May be involved in stabilization of F-actin by attenuating its depolymerization. Can recruit TGFB1I1 from focal adhesions to podocyte lamellipodia.

Phenotypes From GWAS Catalog for PLEKHH2 Gene

Gene Ontology (GO) - Molecular Function for PLEKHH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding ISS --
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with PLEKHH2: view

Phenotypes for PLEKHH2 Gene

genes like me logo Genes that share phenotypes with PLEKHH2: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PLEKHH2 Gene

Localization for PLEKHH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLEKHH2 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium. Note=Localizes to foot process of podocytes. Localization to peripheral regions of lamellipodia seems to be dependent on PI3K.

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 PLEKHH2 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Nuclear bodies (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLEKHH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 22832517
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA,IDA 22832517
genes like me logo Genes that share ontologies with PLEKHH2: view

Pathways & Interactions for PLEKHH2 Gene

SuperPathways for PLEKHH2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PLEKHH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030835 negative regulation of actin filament depolymerization IEA,ISS --
genes like me logo Genes that share ontologies with PLEKHH2: view

No data available for Pathways by source and SIGNOR curated interactions for PLEKHH2 Gene

Drugs & Compounds for PLEKHH2 Gene

(2) Drugs for PLEKHH2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atenolol Approved Pharma Antagonist 108
Verapamil Approved Pharma Channel blocker 135
genes like me logo Genes that share compounds with PLEKHH2: view

Transcripts for PLEKHH2 Gene

Unigene Clusters for PLEKHH2 Gene

Pleckstrin homology domain containing, family H (with MyTH4 domain) member 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLEKHH2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - - - -
SP2: - -
SP3: - - - -
SP4: - -
SP5:
SP6:

ExUns: 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for PLEKHH2 Gene

GeneLoc Exon Structure for
PLEKHH2
ECgene alternative splicing isoforms for
PLEKHH2

Expression for PLEKHH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLEKHH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PLEKHH2 Gene

This gene is overexpressed in Breast (50.8) and Lung (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PLEKHH2 Gene



Protein tissue co-expression partners for PLEKHH2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLEKHH2 Gene:

PLEKHH2

SOURCE GeneReport for Unigene cluster for PLEKHH2 Gene:

Hs.164162

mRNA Expression by UniProt/SwissProt for PLEKHH2 Gene:

Q8IVE3-PKHH2_HUMAN
Tissue specificity: Kidney. Reduced expression in patients with focal segmental glomerulosclerosis.

Evidence on tissue expression from TISSUES for PLEKHH2 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with PLEKHH2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLEKHH2 Gene

Orthologs for PLEKHH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLEKHH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLEKHH2 33 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia PLEKHH2 33 34
  • 91.56 (n)
cow
(Bos Taurus)
Mammalia PLEKHH2 33 34
  • 90.99 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHH2 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhh2 33 16 34
  • 82.99 (n)
rat
(Rattus norvegicus)
Mammalia Plekhh2 33
  • 82.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHH2 34
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHH2 33 34
  • 77 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHH2 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhh2 33
  • 68.86 (n)
zebrafish
(Danio rerio)
Actinopterygii plekhh2 33 34
  • 58.77 (n)
Dr.24262 33
fruit fly
(Drosophila melanogaster)
Insecta CG43867 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea max-1 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
Species where no ortholog for PLEKHH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 PLEKHH2 Gene

ENSEMBL:
Gene Tree for PLEKHH2 (if available)
TreeFam:
Gene Tree for PLEKHH2 (if available)

Paralogs for PLEKHH2 Gene

Variants for PLEKHH2 Gene

Sequence variations from dbSNP and Humsavar for PLEKHH2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000030662 -- 43,708,685(+) C/G intron_variant
rs1000035200 -- 43,756,774(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000071828 -- 43,694,229(+) G/C intron_variant
rs1000077547 -- 43,756,745(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000091589 -- 43,751,902(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PLEKHH2 Gene

Variant ID Type Subtype PubMed ID
nsv581661 CNV gain 21841781
nsv581660 CNV gain 21841781
nsv525332 CNV loss 19592680
nsv507008 OTHER sequence alteration 20534489
nsv498920 CNV loss 21111241
nsv457174 CNV gain 19166990
nsv2709 CNV deletion 18451855
nsv1142955 CNV tandem duplication 24896259
nsv1012126 CNV gain 25217958
nsv1007740 CNV gain 25217958
nsv1001365 CNV gain 25217958
esv3891993 CNV gain 25118596
esv3590536 CNV gain 21293372
esv3590535 CNV gain 21293372
esv3583766 CNV loss 25503493
esv3384254 CNV duplication 20981092
esv3302654 CNV tandem duplication 20981092
esv2719994 CNV deletion 23290073
esv2656831 CNV deletion 23128226
esv2525475 CNV deletion 19546169
dgv59n68 CNV gain 17160897
dgv148e55 CNV loss 17911159

Variation tolerance for PLEKHH2 Gene

Residual Variation Intolerance Score: 33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.95; 89.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLEKHH2 Gene

Human Gene Mutation Database (HGMD)
PLEKHH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLEKHH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLEKHH2 Gene

Disorders for PLEKHH2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLEKHH2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
focal segmental glomerulosclerosis
  • fgs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PLEKHH2

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 PLEKHH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLEKHH2 Gene

Publications for PLEKHH2 Gene

  1. Plekhh2, a novel podocyte protein downregulated in human focal segmental glomerulosclerosis, is involved in matrix adhesion and actin dynamics. (PMID: 22832517) Perisic L … Pikkarainen T (Kidney international 2012) 3 4 58
  2. Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population. (PMID: 18752002) Greene CN … Mueller PW (Human genetics 2008) 3 44 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. BioID-based Identification of Skp Cullin F-box (SCF)β-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E … Raught B (Molecular & cellular proteomics : MCP 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for PLEKHH2 Gene

Sources for PLEKHH2 Gene

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