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Aliases for PPEF2 Gene

Aliases for PPEF2 Gene

  • Protein Phosphatase With EF-Hand Domain 2 2 3
  • Protein Phosphatase, EF-Hand Calcium Binding Domain 2 2 3 5
  • EC 3.1.3.16 4 63
  • Protein Phosphatase 7, Catalytic Subunit, Beta Isozyme 3
  • Protein Phosphatase, EF Hand Calcium-Binding Domain 2 3
  • Protein Phosphatase With EF Hands 2 3
  • Protein Phosphatase 7 2
  • Catalytic Subunit 2
  • Beta Isozyme 2
  • 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. Among its related pathways are Visual Cycle in Retinal Rods. GO annotations related to this gene include calcium ion binding and iron ion binding. An important paralog of this gene is PPP5C.

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.

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

Genomics for PPEF2 Gene

Regulatory Elements for PPEF2 Gene

Enhancers for PPEF2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PPEF2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PPEF2 Gene

Chromosome:
4
Start:
75,859,864 bp from pter
End:
75,902,571 bp from pter
Size:
42,708 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

Proteomics data for PPEF2 Gene at MOPED

Selected DME Specific Peptides for PPEF2 Gene

Post-translational modifications for PPEF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PPEF2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & 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 :
  • Contains 3 EF-hand domains.
  • Belongs to the PPP phosphatase family.
Domain:
  • Contains 3 EF-hand domains.
  • Contains 1 IQ domain.
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 CatalyticActivity:
[a protein]-serine/threonine phosphate + H(2)O = [a protein]-serine/threonine + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by calcium.
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.

Enzyme Numbers (IUBMB) for PPEF2 Gene

Gene Ontology (GO) - Molecular Function for PPEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005506 iron ion binding IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 12051765
GO:0016787 hydrolase activity IEA --
GO:0030145 manganese ion binding 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

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
Jensen Localization Image for PPEF2 Gene COMPARTMENTS Subcellular localization image for PPEF2 gene
Compartment Confidence
cytosol 3
nucleus 2
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for PPEF2 Gene

Pathways & Interactions for PPEF2 Gene

SuperPathways for PPEF2 Gene

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

None

No data available for SIGNOR curated interactions for PPEF2 Gene

Drugs & Compounds for PPEF2 Gene

(2) Drugs for PPEF2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Pharma 32
calcium Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with PPEF2: view

Transcripts for PPEF2 Gene

mRNA/cDNA for PPEF2 Gene

Unigene Clusters for PPEF2 Gene

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

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 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, PaxDb, and MOPED for PPEF2 Gene



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.
genes like me logo Genes that share expression patterns with PPEF2: view

Protein tissue co-expression partners for PPEF2 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia PPEF2 35
  • 86.01 (n)
  • 83.8 (a)
PPEF2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPEF2 35
  • 82.61 (n)
  • 79.05 (a)
PPEF2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ppef2 35
  • 83.16 (n)
  • 83.47 (a)
Ppef2 16
Ppef2 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PPEF2 35
  • 99.29 (n)
  • 99.2 (a)
PPEF2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppef2 35
  • 83.67 (n)
  • 84.38 (a)
oppossum
(Monodelphis domestica)
Mammalia PPEF2 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPEF2 36
  • 42 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPEF2 35
  • 70.65 (n)
  • 70.6 (a)
PPEF2 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPEF2 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppef2 35
  • 66.25 (n)
  • 65.13 (a)
zebrafish
(Danio rerio)
Actinopterygii PPEF2 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011414 35
  • 54.9 (n)
  • 50.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta rdgC 35
  • 52.53 (n)
  • 46.21 (a)
rdgC 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pef-1 36
  • 40 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PPT1 36
  • 22 (a)
OneToMany
Species with no ortholog for PPEF2:
  • 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)

Paralogs for PPEF2 Gene

Paralogs for PPEF2 Gene

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

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 Sequence Context AA Info Type
VAR_010230 -
VAR_055121 -
VAR_055122 -
rs34155925 - 75,867,411(+) CCACT(C/T)TGCTA reference, missense
rs17000961 - 75,867,346(+) TTCAC(A/T)GAGAA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv7363 OTHER Inversion 18451855
esv1235933 CNV Insertion 17803354

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)

Relevant External Links for PPEF2 Gene

HapMap Linkage Disequilibrium report
PPEF2
Human Gene Mutation Database (HGMD)
PPEF2

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

Disorders for PPEF2 Gene

MalaCards: The human disease database

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

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

Relevant External Links for PPEF2

Genetic Association Database (GAD)
PPEF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 P.M. … Nathans J. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 67
  2. Protein Ser/Thr phosphatases PPEF interact with calmodulin. (PMID: 12051765) Kutuzov M.A. … Bennett N. (Biochem. Biophys. Res. Commun. 2002) 2 3
  3. Protein phosphatase with EF-hand domains 2 (PPEF2) is a potent negative regulator of apoptosis signal regulating kinase-1 (ASK1). (PMID: 20674765) Kutuzov M.A. … Andreeva A.V. (Int. J. Biochem. Cell Biol. 2010) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Normal light response, photoreceptor integrity, and rhodopsin dephosphorylation in mice lacking both protein phosphatases with EF hands (PPEF-1 and PPEF-2). (PMID: 11713293) Ramulu P. … Nathans J. (Mol. Cell. Biol. 2001) 3

Products for PPEF2 Gene

Sources for PPEF2 Gene

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