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PPEF2 protein phosphatase with EF-hand domain 2 [ Homo sapiens (human) ]

Gene ID: 5470, updated on 5-Mar-2024

Summary

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Official Symbol
PPEF2provided by HGNC
Official Full Name
protein phosphatase with EF-hand domain 2provided by HGNC
Primary source
HGNC:HGNC:9244
See related
Ensembl:ENSG00000156194 MIM:602256; AllianceGenome:HGNC:9244
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPP7CB
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See PPEF2 in Genome Data Viewer
Location:
4q21.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (75859867..75902452, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79199974..79242943, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (76781020..76823605, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:76648951-76649871 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:76649872-76650791 Neighboring gene USO1 vesicle transport factor Neighboring gene uncharacterized LOC105377284 Neighboring gene RNA, U2 small nuclear 16, pseudogene Neighboring gene uncharacterized LOC105377285 Neighboring gene Sharpr-MPRA regulatory region 11706 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:76829825-76830747 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:76830748-76831669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15484 Neighboring gene N-acylethanolamine acid amidase Neighboring gene SDA1 domain containing 1 Neighboring gene SDAD1 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Protein phosphatase with EF-hand domains 2 (PPEF2) is a potent negative regulator of apoptosis signal regulating kinase-1 (ASK1). Kutuzov MA, et al. Int J Biochem Cell Biol, 2010 Nov. PMID 20674765
  2. Normal light response, photoreceptor integrity, and rhodopsin dephosphorylation in mice lacking both protein phosphatases with EF hands (PPEF-1 and PPEF-2). Ramulu P, et al. Mol Cell Biol, 2001 Dec. PMID 11713293, Free PMC Article
  3. Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C. Sherman PM, et al. Proc Natl Acad Sci U S A, 1997 Oct 14. PMID 9326663, Free PMC Article
  4. Protein Ser/Thr phosphatases PPEF interact with calmodulin. Kutuzov MA, et al. Biochem Biophys Res Commun, 2002 May 10. PMID 12051765
  5. PPARγ Interaction with UBR5/ATMIN Promotes DNA Repair to Maintain Endothelial Homeostasis. Li CG, et al. Cell Rep, 2019 Jan 29. PMID 30699358, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exome sequencing reveals PPEF2 variant associated with high myopia.
    Title: Exome sequencing reveals PPEF2 variant associated with high myopia.
  2. Data suggest that, despite structural divergence, PPEF and PP5 phosphatases may share common interacting partners and functions.
    Title: Protein phosphatase with EF-hand domains 2 (PPEF2) is a potent negative regulator of apoptosis signal regulating kinase-1 (ASK1).
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Hsp70 protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables Hsp90 protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Hsp90 protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables manganese ion binding IEA
Inferred from Electronic Annotation
more info
  
enables mitogen-activated protein kinase kinase kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables myosin phosphatase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein serine/threonine phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in detection of stimulus involved in sensory perception IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of MAPK cascade IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein dephosphorylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of JUN kinase activity IC
Inferred by Curator
more info
 PubMed 
involved_in regulation of MAP kinase activity IC
Inferred by Curator
more info
 PubMed 
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
serine/threonine-protein phosphatase with EF-hands 2
Names
protein phosphatase 7, catalytic subunit, beta isozyme
protein phosphatase with EF hands 2
protein phosphatase, EF-hand calcium binding domain 2
NP_006230.2
XP_011530341.1
XP_054206242.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006239.3 → NP_006230.2  serine/threonine-protein phosphatase with EF-hands 2

    See identical proteins and their annotated locations for NP_006230.2

    Status: REVIEWED

    Source sequence(s)
    AC110615
    Consensus CDS
    CCDS34013.1
    UniProtKB/Swiss-Prot
    O14830, O14831
    Related
    ENSP00000286719.6, ENST00000286719.12
    Conserved Domains (4) summary
    smart00156
    Location:141 → 540
    PP2Ac; Protein phosphatase 2A homologues, catalytic domain
    cd00051
    Location:657 → 722
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd07420
    Location:122 → 537
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:657 → 721
    EF-hand_7; EF-hand domain pair

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    75859867..75902452 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532039.3 → XP_011530341.1  serine/threonine-protein phosphatase with EF-hands 2 isoform X1

    See identical proteins and their annotated locations for XP_011530341.1

    UniProtKB/Swiss-Prot
    O14830, O14831
    Conserved Domains (4) summary
    smart00156
    Location:141 → 540
    PP2Ac; Protein phosphatase 2A homologues, catalytic domain
    cd00051
    Location:657 → 722
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd07420
    Location:122 → 537
    MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
    pfam13499
    Location:657 → 721
    EF-hand_7; EF-hand domain pair

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    79199974..79242943 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350267.1 → XP_054206242.1  serine/threonine-protein phosphatase with EF-hands 2 isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152933.1: Suppressed sequence

    Description
    NM_152933.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_152934.1: Suppressed sequence

    Description
    NM_152934.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14830.2 GenPept UniProtKB/Swiss-Prot:O14830

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