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Aliases for PLEKHH2 Gene

Aliases for PLEKHH2 Gene

  • 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 Domain Containing, Family H (With MyTH4 Domain) Member 2) 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

Genomic Location for PLEKHH2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PLEKHH2 Gene at MOPED

Post-translational modifications for PLEKHH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PLEKHH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PLEKHH2 Gene

Domains for PLEKHH2 Gene

Gene Families for PLEKHH2 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing

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 :
  • Q8IVE3
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

miRNA for PLEKHH2 Gene

miRTarBase miRNAs that target PLEKHH2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for PLEKHH2 Gene COMPARTMENTS Subcellular localization image for PLEKHH2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for PLEKHH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005856 cytoskeleton --
GO:0005886 plasma membrane IDA 22832517
GO:0030027 lamellipodium IDA 22832517
GO:0030864 cortical actin cytoskeleton ISS --
genes like me logo Genes that share ontologies with PLEKHH2: view

Pathways for PLEKHH2 Gene

SuperPathways for PLEKHH2 Gene

No Data Available

Interacting Proteins for PLEKHH2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000282406%0d%0a9606.ENSP00000378332%0d%0a9606.ENSP00000431284%0d%0a
Selected Interacting proteins: ENSP00000282406 Q8IVE3-PKHH2_HUMAN for PLEKHH2 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for PLEKHH2 Gene

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

No data available for Pathways by source 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:

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 for PLEKHH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PLEKHH2 Gene

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 expressions with PLEKHH2: view

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 35
  • 99.53 (n)
  • 99.4 (a)
PLEKHH2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PLEKHH2 35
  • 90.99 (n)
  • 94.16 (a)
PLEKHH2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PLEKHH2 35
  • 91.56 (n)
  • 95.18 (a)
PLEKHH2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Plekhh2 35
  • 82.99 (n)
  • 86.1 (a)
Plekhh2 16
Plekhh2 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PLEKHH2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLEKHH2 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Plekhh2 35
  • 82.25 (n)
  • 85.26 (a)
chicken
(Gallus gallus)
Aves PLEKHH2 35
  • 77 (n)
  • 80.42 (a)
PLEKHH2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLEKHH2 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plekhh2 35
  • 68.86 (n)
  • 70.69 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.24262 35
plekhh2 35
  • 58.77 (n)
  • 58.77 (a)
plekhh2 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43867 36
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea max-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for PLEKHH2:
  • 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

Paralogs for PLEKHH2 Gene

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

Variants for PLEKHH2 Gene

Sequence variations from dbSNP and Humsavar for PLEKHH2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs13522 -- 43,767,558(+) CTGGG(A/T)TACAG utr-variant-3-prime
rs713262 -- 43,740,383(-) AAACA(C/T)GTTAC intron-variant
rs719424 -- 43,681,912(-) TAATT(A/T)AAAAA intron-variant
rs719425 -- 43,682,184(-) TGGTG(A/T)GATGA intron-variant
rs721849 -- 43,722,337(+) TTTTA(A/G)AAAAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv873974 CNV Loss 21882294
dgv148e55 CNV Loss 17911159
nsv873977 CNV Loss 21882294
dgv59n68 CNV Gain 17160897
nsv2709 CNV Loss 18451855
esv2656831 CNV Deletion 23128226
nsv498920 CNV Loss 21111241
nsv507008 CNV Insertion 20534489
nsv873978 CNV Loss 21882294
nsv873979 CNV Loss 21882294
esv2719994 CNV Deletion 23290073
nsv525332 CNV Loss 19592680
esv2525475 CNV Deletion 19546169
esv259628 OTHER Complex 20981092
nsv457174 CNV Gain 19166990

Relevant External Links for PLEKHH2 Gene

HapMap Linkage Disequilibrium report
PLEKHH2
Human Gene Mutation Database (HGMD)
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
genes like me logo Genes that share disorders with PLEKHH2: view

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

Publications for PLEKHH2 Gene

  1. 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 48
  2. 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
  3. Protein interaction discovery using parallel analysis of translated ORFs (PLATO). (PMID: 23503679) Zhu J. … Elledge S.J. (Nat. Biotechnol. 2013) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4

Products for PLEKHH2 Gene

  • antibodies-online peptides for PLEKHH2
  • antibodies-online antibodies for PLEKHH2
  • antibodies-online kits for PLEKHH2

Sources for PLEKHH2 Gene

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