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:

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