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Aliases for PPEF2 Gene

Aliases for PPEF2 Gene

  • Protein Phosphatase With EF-Hand Domain 2 2 3 5
  • Protein Phosphatase 7, Catalytic Subunit, Beta Isozyme 2 3
  • Protein Phosphatase, EF-Hand Calcium Binding Domain 2 2 3
  • Serine/Threonine-Protein Phosphatase With EF-Hands 2 3
  • Protein Phosphatase With EF Hands 2 3
  • EC 3.1.3.16 4
  • PPP7CB 3
  • PPEF-2 4

External Ids for PPEF2 Gene

Previous GeneCards Identifiers for PPEF2 Gene

  • GC04M076677
  • GC04M076971
  • GC04M077173
  • GC04M077239
  • GC04M077138
  • GC04M076781
  • GC04M072533

Summaries for PPEF2 Gene

Entrez Gene Summary for PPEF2 Gene

  • This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPEF2 Gene

PPEF2 (Protein Phosphatase With EF-Hand Domain 2) is a Protein Coding gene. Among its related pathways are Visual Cycle in Retinal Rods. Gene Ontology (GO) annotations related to this gene include calcium ion binding and iron ion binding. An important paralog of this gene is PPEF1.

UniProtKB/Swiss-Prot for PPEF2 Gene

  • May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission.

Additional gene information for PPEF2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPEF2 Gene

Genomics for PPEF2 Gene

GeneHancer (GH) Regulatory Elements for PPEF2 Gene

Promoters and enhancers for PPEF2 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
GH04J075901 Enhancer 1 FANTOM5 Ensembl ENCODE 650.7 +0.9 904 0.7 SMARCE1 CEBPB MAFG CEBPG EBF1 MEF2B ZNF316 EMSY MAFK SPI1 PPEF2 NAAA CXCL10 CXCL9 CXCL11 THAP6 RCHY1 LOC105377285
GH04J075902 Promoter 0.5 EPDnew 650.7 +0.1 99 0.1 PPEF2 LOC105377285
GH04J075939 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 12.2 -37.9 -37937 2.1 PKNOX1 ATF1 SIN3A DMAP1 ZNF48 ZNF766 KLF7 ATF7 RXRA SP5 NAAA PIR50646 GC04M075942 PPEF2 SCARB2 ART3 SDAD1 GC04M075923
GH04J075848 Enhancer 1 Ensembl ENCODE 11.3 +53.9 53922 1.3 FOXA2 RB1 BATF ZNF2 RAD21 YY1 ZNF335 ZNF143 ATF7 ZNF654 LOC105377284 PPEF2 GC04P075831 LOC105377285
GH04J075849 Enhancer 0.6 Ensembl ENCODE 11.3 +52.9 52870 0.2 MAX ZNF644 RNU2-16P LOC105377284 PPEF2 GC04P075831 LOC105377285
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPEF2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPEF2 gene promoter:
  • YY1
  • Arnt
  • AhR
  • TBP
  • Msx-1
  • Pax-4a
  • ARP-1
  • PPAR-gamma2
  • PPAR-gamma1
  • Pax-2a

Genomic Locations for PPEF2 Gene

Genomic Locations for PPEF2 Gene
chr4:75,859,864-75,902,571
(GRCh38/hg38)
Size:
42,708 bases
Orientation:
Minus strand
chr4:76,781,020-76,823,724
(GRCh37/hg19)
Size:
42,705 bases
Orientation:
Minus strand

Genomic View for PPEF2 Gene

Genes around PPEF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPEF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPEF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPEF2 Gene

Proteins for PPEF2 Gene

  • Protein details for PPEF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14830-PPE2_HUMAN
    Recommended name:
    Serine/threonine-protein phosphatase with EF-hands 2
    Protein Accession:
    O14830
    Secondary Accessions:
    • O14831

    Protein attributes for PPEF2 Gene

    Size:
    753 amino acids
    Molecular mass:
    86518 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PPEF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPEF2 Gene

Post-translational modifications for PPEF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPEF2 Gene

No data available for DME Specific Peptides for PPEF2 Gene

Domains & Families for PPEF2 Gene

Gene Families for PPEF2 Gene

Suggested Antigen Peptide Sequences for PPEF2 Gene

Graphical View of Domain Structure for InterPro Entry

O14830

UniProtKB/Swiss-Prot:

PPE2_HUMAN :
  • Belongs to the PPP phosphatase family.
Family:
  • Belongs to the PPP phosphatase family.
genes like me logo Genes that share domains with PPEF2: view

Function for PPEF2 Gene

Molecular function for PPEF2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission.
UniProtKB/Swiss-Prot CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium.

Enzyme Numbers (IUBMB) for PPEF2 Gene

Gene Ontology (GO) - Molecular Function for PPEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004721 phosphoprotein phosphatase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity TAS 9326663
GO:0005506 iron ion binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PPEF2: view
genes like me logo Genes that share phenotypes with PPEF2: view

Animal Models for PPEF2 Gene

MGI Knock Outs for PPEF2:

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPEF2 Gene

Localization for PPEF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPEF2 Gene

Cytoplasm. Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment. Note=Localized to photoreceptors, PPEF-2(L) is at least 2 fold more abundant in rod inner segments than in the outer segments.

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 PPEF2 gene
Compartment Confidence
cytosol 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PPEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005737 cytoplasm IEA --
GO:0005929 cilium IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with PPEF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPEF2 Gene

Pathways & Interactions for PPEF2 Gene

SuperPathways for PPEF2 Gene

SuperPathway Contained pathways
1 Visual Cycle in Retinal Rods
genes like me logo Genes that share pathways with PPEF2: view

Pathways by source for PPEF2 Gene

1 Qiagen pathway for PPEF2 Gene

Gene Ontology (GO) - Biological Process for PPEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 9326663
GO:0007601 visual perception IEA --
GO:0010801 negative regulation of peptidyl-threonine phosphorylation IDA 20674765
GO:0043405 regulation of MAP kinase activity IC 20674765
GO:0043409 negative regulation of MAPK cascade IDA 20674765
genes like me logo Genes that share ontologies with PPEF2: view

No data available for SIGNOR curated interactions for PPEF2 Gene

Drugs & Compounds for PPEF2 Gene

(4) Drugs for PPEF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
calcium Approved Nutra 0
Manganese Approved Nutra 37

(2) Additional Compounds for PPEF2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with PPEF2: view

Transcripts for PPEF2 Gene

mRNA/cDNA for PPEF2 Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PPEF2 Gene

Protein phosphatase, EF-hand calcium binding domain 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPEF2 Gene

No ASD Table

Relevant External Links for PPEF2 Gene

GeneLoc Exon Structure for
PPEF2
ECgene alternative splicing isoforms for
PPEF2

Expression for PPEF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPEF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PPEF2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.8), Brain - Cerebellum (x6.7), and Testis (x5.9).

Protein differential expression in normal tissues from HIPED for PPEF2 Gene

This gene is overexpressed in Retina (43.0) and Adipocyte (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPEF2 Gene



Protein tissue co-expression partners for PPEF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PPEF2 Gene:

PPEF2

SOURCE GeneReport for Unigene cluster for PPEF2 Gene:

Hs.290873

mRNA Expression by UniProt/SwissProt for PPEF2 Gene:

O14830-PPE2_HUMAN
Tissue specificity: Retinal specific.

Evidence on tissue expression from TISSUES for PPEF2 Gene

  • Eye(4.3)
genes like me logo Genes that share expression patterns with PPEF2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PPEF2 Gene

Orthologs for PPEF2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PPEF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPEF2 34 33
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPEF2 34 33
  • 86.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppef2 33
  • 83.67 (n)
mouse
(Mus musculus)
Mammalia Ppef2 16 34 33
  • 83.16 (n)
dog
(Canis familiaris)
Mammalia PPEF2 34 33
  • 82.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPEF2 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPEF2 34
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPEF2 34 33
  • 70.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPEF2 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppef2 33
  • 66.25 (n)
zebrafish
(Danio rerio)
Actinopterygii PPEF2 34
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011414 33
  • 54.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta rdgC 34 33
  • 52.53 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pef-1 34
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PPT1 34
  • 22 (a)
OneToMany
Species where no ortholog for PPEF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PPEF2 Gene

ENSEMBL:
Gene Tree for PPEF2 (if available)
TreeFam:
Gene Tree for PPEF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPEF2: view image

Paralogs for PPEF2 Gene

Paralogs for PPEF2 Gene

(1) SIMAP similar genes for PPEF2 Gene using alignment to 3 proteins:

  • PPE2_HUMAN
  • E7EPQ9_HUMAN
  • Q14DF6_HUMAN

Pseudogenes.org Pseudogenes for PPEF2 Gene

genes like me logo Genes that share paralogs with PPEF2: view

Variants for PPEF2 Gene

Sequence variations from dbSNP and Humsavar for PPEF2 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000052006 -- 75,884,962(-) A/C/G intron_variant
rs1000120356 -- 75,867,955(-) C/T intron_variant
rs1000144067 -- 75,871,358(-) C/A/G/T intron_variant
rs1000194249 -- 75,869,432(-) A/T intron_variant
rs1000335634 -- 75,886,783(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPEF2 Gene

Variant ID Type Subtype PubMed ID
esv1235933 CNV insertion 17803354
nsv7363 OTHER inversion 18451855

Variation tolerance for PPEF2 Gene

Residual Variation Intolerance Score: 84.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.51; 85.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPEF2 Gene

Human Gene Mutation Database (HGMD)
PPEF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPEF2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPEF2 Gene

Disorders for PPEF2 Gene

Additional Disease Information for PPEF2

No disorders were found for PPEF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPEF2 Gene

Publications for PPEF2 Gene

  1. Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C. (PMID: 9326663) Sherman PM … Nathans J (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 58
  2. Protein Ser/Thr phosphatases PPEF interact with calmodulin. (PMID: 12051765) Kutuzov MA … Bennett N (Biochemical and biophysical research communications 2002) 2 3 58
  3. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 58
  4. Protein phosphatase with EF-hand domains 2 (PPEF2) is a potent negative regulator of apoptosis signal regulating kinase-1 (ASK1). (PMID: 20674765) Kutuzov MA … Andreeva AV (The international journal of biochemistry & cell biology 2010) 3 58
  5. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PMID: 17903294) Yang Q … O'Donnell CJ (BMC medical genetics 2007) 44 58

Products for PPEF2 Gene

Sources for PPEF2 Gene

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