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

Gene ID: 5470, updated on 12-Oct-2019

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
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

Genomic context

See PPEF2 in Genome Data Viewer
Location:
4q21.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (75859867..75902452, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (76781025..76823681, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene USO1 vesicle transport factor Neighboring gene uncharacterized LOC105377284 Neighboring gene RNA, U2 small nuclear 16, pseudogene Neighboring gene uncharacterized LOC105377285 Neighboring gene N-acylethanolamine acid amidase Neighboring gene SDA1 domain containing 1 Neighboring gene uncharacterized LOC101928809

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011532039.2XP_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
    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

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.
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