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 ... See more...

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 4
  • EC 3.1.3.16 4 52
  • Protein Phosphatase With EF Hands 2 3
  • 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. Diseases associated with PPEF2 include Retinal Degeneration and Hypophosphatasia, Adult. 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 Summary 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 , Rfam classification 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 Promoter/Enhancer 1.1 FANTOM5 Ensembl ENCODE 500.7 +0.9 859 0.6 ZNF316 CEBPG MEF2B SPI1 EBF1 MAFK MAFG ZNF384 CEBPB SMARCE1 PPEF2 lnc-PPEF2-1 NAAA CXCL10 CXCL9 CXCL11 THAP6 RCHY1 lnc-NAAA-2
GH04J075902 Promoter 0.3 EPDnew 500.7 +0.1 99 0.1 PPEF2 lnc-PPEF2-1 lnc-NAAA-2
GH04J075939 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 -38.0 -38030 2.8 HNRNPK NRF1 POLR2G ZFX KDM6A ZBTB26 TARDBP KLF7 CTCF MYC NAAA RF00017-4333 lnc-SDAD1-2 piR-56647 PPEF2 SCARB2 ART3 lnc-SDAD1-1 SDAD1
GH04J075848 Enhancer 1 Ensembl ENCODE 11.3 +53.7 53670 2.2 CTCF ZNF639 REST RAD21 TRIM22 TEAD1 SMC3 OSR2 FOXA2 CEBPB ENSG00000229717 PPEF2 FAM47E piR-37097-076 RF00004-088 RNU2-16P
GH04J075922 Enhancer 0.6 Ensembl 12 -20.5 -20530 1 FOXA2 ZBTB33 JUND RAD21 RXRA HNF4A ATF3 SP1 FOXA1 YY1 NAAA PPEF2 CXCL9 ART3 lnc-PPEF2-2 RF00017-4333
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPEF2

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

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

Selected DME Specific Peptides for PPEF2 Gene

O14830:
  • GDFVDRG
  • NLRYGFTKE
  • IFYKNGLPS
  • RGGGCYFGPDVT

Post-translational modifications for PPEF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPEF2 Gene

Domains & Families for PPEF2 Gene

Gene Families for PPEF2 Gene

Protein Domains for PPEF2 Gene

Blocks:
  • Serine/threonine-specific protein phosphatase and bis(5-nucleosyl)-tetraphosphatase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PPEF2 Gene

GenScript: Design optimal peptide antigens:
  • Serine/threonine-protein phosphatase with EF-hands 2 (PPE2_HUMAN)
  • PPEF2 protein (Q14DF6_HUMAN)

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:
Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium.

Enzyme Numbers (IUBMB) for PPEF2 Gene

Phenotypes From GWAS Catalog 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 IBA,TAS 21873635
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:

Clone Products

No data available for 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
nucleus 4
cytosol 4
cytoskeleton 1
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:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA 21873635
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

PathCards logo

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
  • Visual Cycle in Retinal Rods

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 IBA,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

(5) Drugs for PPEF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1496
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Calcium Approved Nutra 7884
Manganese Approved Nutra 51

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with PPEF2: view

Transcripts for PPEF2 Gene

mRNA/cDNA for PPEF2 Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for PPEF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPEF2 31 30
  • 86.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppef2 30
  • 83.67 (n)
mouse
(Mus musculus)
Mammalia Ppef2 17 31 30
  • 83.16 (n)
dog
(Canis familiaris)
Mammalia PPEF2 31 30
  • 82.61 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPEF2 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPEF2 31
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPEF2 31 30
  • 70.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPEF2 31
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppef2 30
  • 66.25 (n)
zebrafish
(Danio rerio)
Actinopterygii PPEF2 31
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011414 30
  • 54.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta rdgC 31 30
  • 52.53 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pef-1 31
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PPT1 31
  • 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

(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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPEF2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs17000961 - p.Ser575Cys
rs34097437 - p.Val394Leu
rs34155925 - p.Arg553Lys
rs35599561 - p.Glu412Lys
rs6858658 - p.Met481Leu

Additional dbSNP identifiers (rs#s) for PPEF2 Gene

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

MalaCards: The human disease database

(2) MalaCards diseases for PPEF2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinal degeneration
  • degeneration of retina
hypophosphatasia, adult
  • hypophosphatasia, mild
- elite association - COSMIC cancer census association via MalaCards
Search PPEF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPEF2

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

No data available for 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 54
  2. Protein Ser/Thr phosphatases PPEF interact with calmodulin. (PMID: 12051765) Kutuzov MA … Bennett N (Biochemical and biophysical research communications 2002) 2 3 54
  3. PPARγ Interaction with UBR5/ATMIN Promotes DNA Repair to Maintain Endothelial Homeostasis. (PMID: 30699358) Li CG … Rabinovitch M (Cell reports 2019) 3 54
  4. Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators. (PMID: 27880917) St-Denis N … Gingras AC (Cell reports 2016) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for PPEF2 Gene

Sources for PPEF2 Gene