PPEF2
Serine/threonine-protein phosphatase with EF-hands 2
Also known as: PPE2_HUMAN, PPP7CB
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O14830
- Gene
- PPEF2
- Ensembl
- ENSG00000156194
- Chromosome
- 4
- Canonical length
- 753 aa
- Protein class
- Enzymes, Predicted intracellular proteins
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
753 residues, UniProt reviewed canonical sequence.
>O14830|PPEF2
1 MGSGTSTQHH FAFQNAERAF KAAALIQRWY RRYVARLEMR RRCTWSIFQS IEYAGQQDQV
61 KLHDFFSYLM DHFIPSSHND RDFLTRIFTE DRFAQDSEMK KCSDYESIEV PDSYTGPRLS
121 FPLLPDHATA LVEAFRLKQQ LHARYVLNLL YETKKHLVQL PNINRVSTCY SEEITVCGDL
181 HGQLDDLIFI FYKNGLPSPE RSYVFNGDFV DRGKDSVEIL MILFAFMLVY PKEFHLNRGN
241 HEDHMVNLRY GFTKEVMNKY KVHGKEILRT LQDVFCWLPL ATLIDEKVLI LHGGVSDITD
301 LELLDKIERS KIVSTMRCKT RQKSEKQMEE KRRANQKSSA QGPIPWFLPE SRSLPSSPLR
361 LGSYKAQKTS RSSSIPCSGS LDGRELSRQV RSSVELELER CRQQAGLLVT GEKEEPSRSA
421 SEADSEAGEL RKPTQEEWRQ VVDILWSDPM AQEGCKANTI RGGGCYFGPD VTQQLLQKYN
481 MQFLIRSHEC KPEGYEFCHN RKVLTIFSAS NYYEVGSNRG AYVKLGPALT PHIVQYQANK
541 VTHTLTMRQR ISRVEESALR ALREKLFAHS SDLLSEFKKH DADKVGLITL SDWAAAVESV
601 LHLGLPWRML RPQLVNSSAD NMLEYKSWLK NLAKEQLSRE NIQSSLLETL YRNRSNLETI
661 FRIIDSDHSG FISLDEFRQT WKLFSSHMNI DITDDCICDL ARSIDFNKDG HIDINEFLEA
721 FRLVEKSCPE GDASECPQAT NAKDSGCSSP GAHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PPEF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 221 nTPM
Expression across tissuesHPA
Tissue
- retina: 221 nTPM
- cerebellum: 0.8 nTPM
- choroid plexus: 0.7 nTPM
- testis: 0.6 nTPM
- adipose tissue: 0.1 nTPM
- basal ganglia: 0.1 nTPM
Single-cell type
- rod photoreceptor cells: 1,892 nCPM
- cone photoreceptor cells: 464 nCPM
- retinal ganglion cells: 66 nCPM
- retinal horizontal cells: 30 nCPM
- retinal bipolar cells: 18 nCPM
- early spermatids: 15 nCPM
Immune cell
- basophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- non-classical monocyte: 0.1 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- cerebellum: 0.1 nTPM
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.97
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.04
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cellular response to hydrogen peroxide
- detection of stimulus involved in sensory perception
- negative regulation of apoptotic signaling pathway
- negative regulation of MAPK cascade
- protein dephosphorylation
- visual perception
Molecular functions
- calcium ion binding
- Hsp70 protein binding
- Hsp90 protein binding
- iron ion binding
- manganese ion binding
- mitogen-activated protein kinase kinase kinase binding
- protein serine/threonine kinase inhibitor activity
- protein serine/threonine phosphatase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- EF-hand domain
- Calcineurin-like, phosphoesterase domain
- Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase
- EF-hand domain pair
- Serine/threonine-protein phosphatase with EF-hands
- PPP domain
- EF-Hand 1, calcium-binding site
- Metallo-dependent phosphatase-like
- Protein Phosphatase PPP
- Calcineurin-like phosphoesterase
- PPP5 TPR repeat region
- EF-hand domain pair
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PPEF2 as an antibody target. Whether an autoantibody or antibody against PPEF2 could matter depends on whether native PPEF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PPEF2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PPEF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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