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

    Gene ID: 5470, updated on 28-Oct-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (75859867..75902452, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79199974..79242943, complement)
    RS_2024_09 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 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. Exome sequencing reveals PPEF2 variant associated with high myopia. Jing S, et al. Gene, 2024 Mar 1. PMID 38110044
    2. 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
    3. 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
    4. 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
    5. Protein Ser/Thr phosphatases PPEF interact with calmodulin. Kutuzov MA, et al. Biochem Biophys Res Commun, 2002 May 10. PMID 12051765

    See all (11) 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 binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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_2024_08

    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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