U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 5470, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_006239.3NP_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:141540
      PP2Ac; Protein phosphatase 2A homologues, catalytic domain
      cd00051
      Location:657722
      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:122537
      MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
      pfam13499
      Location:657721
      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_011532039.3XP_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:141540
      PP2Ac; Protein phosphatase 2A homologues, catalytic domain
      cd00051
      Location:657722
      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:122537
      MPP_RdgC; Drosophila melanogaster RdgC and related proteins, metallophosphatase domain
      pfam13499
      Location:657721
      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_054350267.1XP_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.