Free for academic non-profit institutions. Other users need a Commercial license

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. 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.

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

Genomics for PLEKHH2 Gene

Regulatory Elements for PLEKHH2 Gene

Enhancers for PLEKHH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F043024 1.2 Ensembl ENCODE 16.9 -611.0 -610973 4.6 HDGF ZNF133 ARID4B FEZF1 ZNF2 ZNF48 ZNF121 ZNF143 REST SSRP1 PLEKHH2 RNU6-242P COX7A2L LOC105374569 LINC01819
GH02F042921 1.7 FANTOM5 Ensembl ENCODE 11.2 -709.4 -709367 13.8 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 YBX1 YY1 SLC30A9 ZNF143 PLEKHH2 EML4 OXER1 HAAO COX7A2L LOC105374568 GC02M042943
GH02F043045 1.1 Ensembl ENCODE 16.9 -590.4 -590424 2.3 CTCF ESRRA ZIC2 CTBP1 GATA3 FOS MAFK RFX1 ZNF687 MAZ PLEKHH2 ENSG00000233978 PIR48377
GH02F043724 1 ENCODE 18.5 +88.2 88185 1.3 ATF1 PKNOX1 ARNT ZNF121 ELK1 GATA2 NCOA1 SMARCB1 CREB3 MBD2 PLEKHH2 DYNC2LI1 LOC100421122 RN7SKP66
GH02F043773 1.1 ENCODE 16.1 +137.0 137001 1.7 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF207 ZNF143 SP3 ZHX2 MXD4 PLEKHH2 ZFP36L2 DYNC2LI1 LOC105374571 ABCG8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLEKHH2 on UCSC Golden Path with GeneCards custom track

Promoters for PLEKHH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000122240 428 2199 ATF1 PKNOX1 DEAF1 FEZF1 ZNF48 GLIS2 FOS CREM SP3 SP5

Genomic Location for PLEKHH2 Gene

Chromosome:
2
Start:
43,637,273 bp from pter
End:
43,767,987 bp from pter
Size:
130,715 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHH2 Gene

No data available for DME Specific Peptides for PLEKHH2 Gene

Domains & Families for PLEKHH2 Gene

Suggested Antigen Peptide Sequences for PLEKHH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IVE3

UniProtKB/Swiss-Prot:

PKHH2_HUMAN :
  • Contains 1 FERM domain.
Domain:
  • Contains 1 FERM domain.
  • Contains 1 MyTH4 domain.
  • Contains 2 PH domains.
genes like me logo Genes that share domains with PLEKHH2: view

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.

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for PLEKHH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 22832517
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA,IDA 22832517
GO:0016020 membrane IEA --
GO:0030027 lamellipodium 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

Interacting Proteins for PLEKHH2 Gene

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

Transcripts for PLEKHH2 Gene

Unigene Clusters for PLEKHH2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with PLEKHH2: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia PLEKHH2 34 35
  • 91.56 (n)
cow
(Bos Taurus)
Mammalia PLEKHH2 34 35
  • 90.99 (n)
oppossum
(Monodelphis domestica)
Mammalia PLEKHH2 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhh2 34 16 35
  • 82.99 (n)
rat
(Rattus norvegicus)
Mammalia Plekhh2 34
  • 82.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHH2 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLEKHH2 34 35
  • 77 (n)
lizard
(Anolis carolinensis)
Reptilia PLEKHH2 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhh2 34
  • 68.86 (n)
zebrafish
(Danio rerio)
Actinopterygii plekhh2 34 35
  • 58.77 (n)
Dr.24262 34
fruit fly
(Drosophila melanogaster)
Insecta CG43867 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea max-1 35
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1003268 -- 43,705,903(-) TGGTG(C/G)GGCAT intron-variant
rs10165660 -- 43,766,309(+) ATTCA(C/G)AAGAA nc-transcript-variant, utr-variant-3-prime
rs10166627 -- 43,756,664(+) TCAAG(C/G)CAGGC intron-variant
rs10168039 -- 43,684,628(+) AAGGG(A/T)AGCAA intron-variant
rs10168069 -- 43,744,882(+) aaaaa(A/G)aaaaa 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)

Relevant External Links 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

Relevant External Links for PLEKHH2

Genetic Association Database (GAD)
PLEKHH2
Human Genome Epidemiology (HuGE) Navigator
PLEKHH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLEKHH2

No disorders were found for PLEKHH2 Gene.

No data available for MalaCards , 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 Int. 2012) 3 4 64
  2. Sequence variants in the PLEKHH2 region are associated with diabetic nephropathy in the GoKinD study population. (PMID: 18752002) Greene C.N. … Mueller P.W. (Hum. Genet. 2008) 3 46 64
  3. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J. … Elledge S.J. (Nat. Biotechnol. 2013) 3 64

Products for PLEKHH2 Gene

Sources for PLEKHH2 Gene

Content
Loading form....