PPEF2 (protein phosphatase with EF-hand domain 2) - Rat Genome Database

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Gene: PPEF2 (protein phosphatase with EF-hand domain 2) Homo sapiens
Analyze
Symbol: PPEF2
Name: protein phosphatase with EF-hand domain 2
RGD ID: 1316080
HGNC Page HGNC:9244
Description: Enables Hsp70 protein binding activity; Hsp90 protein binding activity; and mitogen-activated protein kinase kinase kinase binding activity. Involved in negative regulation of MAPK cascade and negative regulation of peptidyl-threonine phosphorylation. Predicted to be located in cytoplasm; photoreceptor inner segment; and photoreceptor outer segment. Predicted to be active in cytosol and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PPP7CB; protein phosphatase 7, catalytic subunit, beta isozyme; protein phosphatase with EF hands 2; protein phosphatase, EF hand calcium-binding domain 2; serine/threonine-protein phosphatase with EF-hands 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38475,859,867 - 75,902,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl475,859,864 - 75,902,571 (-)EnsemblGRCh38hg38GRCh38
GRCh37476,781,020 - 76,823,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36477,000,049 - 77,042,705 (-)NCBINCBI36Build 36hg18NCBI36
Build 34477,138,206 - 77,180,860NCBI
Celera474,081,428 - 74,124,167 (-)NCBICelera
Cytogenetic Map4q21.1NCBI
HuRef472,533,638 - 72,576,290 (-)NCBIHuRef
CHM1_1476,757,660 - 76,800,341 (-)NCBICHM1_1
T2T-CHM13v2.0479,199,974 - 79,242,943 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9326663   PMID:11713293   PMID:12051765   PMID:12477932   PMID:20674765   PMID:21873635   PMID:27880917   PMID:30699358   PMID:33961781   PMID:36724073   PMID:38110044  


Genomics

Comparative Map Data
PPEF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38475,859,867 - 75,902,452 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl475,859,864 - 75,902,571 (-)EnsemblGRCh38hg38GRCh38
GRCh37476,781,020 - 76,823,605 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36477,000,049 - 77,042,705 (-)NCBINCBI36Build 36hg18NCBI36
Build 34477,138,206 - 77,180,860NCBI
Celera474,081,428 - 74,124,167 (-)NCBICelera
Cytogenetic Map4q21.1NCBI
HuRef472,533,638 - 72,576,290 (-)NCBIHuRef
CHM1_1476,757,660 - 76,800,341 (-)NCBICHM1_1
T2T-CHM13v2.0479,199,974 - 79,242,943 (-)NCBIT2T-CHM13v2.0
Ppef2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39592,374,109 - 92,404,759 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl592,374,538 - 92,404,137 (-)EnsemblGRCm39 Ensembl
GRCm38592,226,679 - 92,256,278 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl592,226,679 - 92,256,278 (-)EnsemblGRCm38mm10GRCm38
MGSCv37592,656,000 - 92,682,185 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36593,301,879 - 93,331,478 (-)NCBIMGSCv36mm8
Celera590,370,721 - 90,397,012 (-)NCBICelera
Cytogenetic Map5E2NCBI
cM Map546.28NCBI
Ppef2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81416,081,706 - 16,115,903 (+)NCBIGRCr8
mRatBN7.21415,797,414 - 15,831,620 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1415,797,435 - 15,831,491 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1415,806,128 - 15,840,041 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01417,124,981 - 17,158,888 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01415,820,423 - 15,854,336 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01417,306,825 - 17,333,588 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1417,306,825 - 17,333,588 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01417,220,015 - 17,254,101 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41417,359,298 - 17,392,820 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11417,366,155 - 17,392,304 (+)NCBI
Celera1415,191,812 - 15,226,681 (+)NCBICelera
Cytogenetic Map14p22NCBI
Ppef2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554741,758,988 - 1,770,427 (+)NCBIChiLan1.0ChiLan1.0
PPEF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2354,175,626 - 54,214,835 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1454,365,444 - 54,404,651 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0448,308,761 - 48,345,861 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1454,141,778 - 54,184,351 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl454,141,778 - 54,184,351 (+)Ensemblpanpan1.1panPan2
PPEF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.132443,495 - 467,929 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3241,413,982 - 41,438,265 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.032468,224 - 493,100 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl32468,209 - 492,816 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.132468,945 - 492,944 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.032420,736 - 445,091 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03239,723,367 - 39,747,609 (+)NCBIUU_Cfam_GSD_1.0
Ppef2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528511,613,000 - 11,650,316 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493659864,997 - 106,208 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493659865,009 - 102,349 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPEF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl871,519,274 - 71,573,563 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1871,519,873 - 71,555,977 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2875,655,670 - 75,700,481 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PPEF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1724,371,242 - 24,407,311 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl724,371,587 - 24,406,695 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660372,713,831 - 2,754,856 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppef2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248724,726,647 - 4,747,516 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248724,726,169 - 4,805,021 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPEF2
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1 copy number loss See cases [RCV000050786] Chr4:75453111..84094295 [GRCh38]
Chr4:76378321..85015448 [GRCh37]
Chr4:76597345..85234472 [NCBI36]
Chr4:4q21.1-21.23		 pathogenic
GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1 copy number loss See cases [RCV000051054] Chr4:75729757..76160423 [GRCh38]
Chr4:76654941..77081576 [GRCh37]
Chr4:76873965..77300600 [NCBI36]
Chr4:4q21.1		 uncertain significance
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23		 pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22		 pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1		 pathogenic
NM_006239.2(PPEF2):c.1078C>T (p.Arg360Trp) single nucleotide variant Malignant melanoma [RCV000066533] Chr4:75876529 [GRCh38]
Chr4:76797682 [GRCh37]
Chr4:77016706 [NCBI36]
Chr4:4q21.1		 not provided
NM_006239.2(PPEF2):c.643G>A (p.Asp215Asn) single nucleotide variant Malignant melanoma [RCV000066534] Chr4:75884697 [GRCh38]
Chr4:76805850 [GRCh37]
Chr4:77024874 [NCBI36]
Chr4:4q21.1		 not provided
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3		 pathogenic
GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3 copy number gain See cases [RCV000141486] Chr4:75801143..79005805 [GRCh38]
Chr4:76722296..79926959 [GRCh37]
Chr4:76941320..80145983 [NCBI36]
Chr4:4q21.1-21.21		 pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_006239.3(PPEF2):c.125G>A (p.Arg42His) single nucleotide variant not specified [RCV004333746] Chr4:75891909 [GRCh38]
Chr4:76813062 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.431G>A (p.Arg144His) single nucleotide variant not specified [RCV004311280] Chr4:75888315 [GRCh38]
Chr4:76809468 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.833T>A (p.Leu278His) single nucleotide variant not specified [RCV004284396] Chr4:75883026 [GRCh38]
Chr4:76804179 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1 copy number loss not provided [RCV000682421] Chr4:74890695..77318961 [GRCh37]
Chr4:4q13.3-21.1		 uncertain significance
GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1 copy number loss not provided [RCV000682422] Chr4:75353931..77183033 [GRCh37]
Chr4:4q13.3-21.1		 uncertain significance
GRCh37/hg19 4q21.1(chr4:76770579-76998151)x3 copy number gain not provided [RCV000682423] Chr4:76770579..76998151 [GRCh37]
Chr4:4q21.1		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23		 pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22		 pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1		 pathogenic
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21		 pathogenic
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3		 pathogenic
GRCh37/hg19 4q21.1(chr4:76714825-76978984)x3 copy number gain not provided [RCV001259273] Chr4:76714825..76978984 [GRCh37]
Chr4:4q21.1		 uncertain significance
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1		 pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22		 pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154) copy number loss not specified [RCV002053427] Chr4:73055313..80083154 [GRCh37]
Chr4:4q13.3-21.21		 pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21		 pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:75617591-76926681)x3 copy number gain not provided [RCV001827766] Chr4:75617591..76926681 [GRCh37]
Chr4:4q13.3-21.1		 uncertain significance
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156) copy number gain not specified [RCV002053429] Chr4:75737340..91131156 [GRCh37]
Chr4:4q13.3-22.1		 pathogenic
NC_000004.11:g.(?_76481293)_(77700330_?)del deletion Progressive myoclonic epilepsy [RCV001950969] Chr4:76481293..77700330 [GRCh37]
Chr4:4q21.1		 pathogenic
NM_006239.3(PPEF2):c.2164C>T (p.Arg722Cys) single nucleotide variant not specified [RCV004133046] Chr4:75860765 [GRCh38]
Chr4:76781918 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.304T>C (p.Cys102Arg) single nucleotide variant not specified [RCV004195815] Chr4:75890070 [GRCh38]
Chr4:76811223 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1195G>A (p.Glu399Lys) single nucleotide variant not specified [RCV004221566] Chr4:75876412 [GRCh38]
Chr4:76797565 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1705C>T (p.His569Tyr) single nucleotide variant not specified [RCV004246784] Chr4:75867364 [GRCh38]
Chr4:76788517 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.51G>C (p.Glu17Asp) single nucleotide variant not specified [RCV004218743] Chr4:75896275 [GRCh38]
Chr4:76817428 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1681G>A (p.Ala561Thr) single nucleotide variant not specified [RCV004220292] Chr4:75867388 [GRCh38]
Chr4:76788541 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.844A>T (p.Thr282Ser) single nucleotide variant not specified [RCV004159901] Chr4:75883015 [GRCh38]
Chr4:76804168 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.2237G>C (p.Gly746Ala) single nucleotide variant not specified [RCV004089159] Chr4:75860692 [GRCh38]
Chr4:76781845 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.2026G>A (p.Glu676Lys) single nucleotide variant not specified [RCV004184276] Chr4:75860903 [GRCh38]
Chr4:76782056 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1209G>C (p.Gln403His) single nucleotide variant not specified [RCV004184328] Chr4:75876398 [GRCh38]
Chr4:76797551 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1738C>T (p.His580Tyr) single nucleotide variant not specified [RCV004150154] Chr4:75867331 [GRCh38]
Chr4:76788484 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1901A>T (p.Lys634Met) single nucleotide variant not specified [RCV004113861] Chr4:75866208 [GRCh38]
Chr4:76787361 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.2090T>G (p.Ile697Ser) single nucleotide variant not specified [RCV004194079] Chr4:75860839 [GRCh38]
Chr4:76781992 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1864A>T (p.Met622Leu) single nucleotide variant not specified [RCV004152380] Chr4:75866245 [GRCh38]
Chr4:76787398 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1893C>G (p.Asn631Lys) single nucleotide variant not specified [RCV004228869] Chr4:75866216 [GRCh38]
Chr4:76787369 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1600G>A (p.Val534Met) single nucleotide variant not specified [RCV004239020] Chr4:75872074 [GRCh38]
Chr4:76793227 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.637G>C (p.Gly213Arg) single nucleotide variant not specified [RCV004179602] Chr4:75884703 [GRCh38]
Chr4:76805856 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.19A>G (p.Thr7Ala) single nucleotide variant not specified [RCV004135324] Chr4:75896307 [GRCh38]
Chr4:76817460 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.295A>T (p.Met99Leu) single nucleotide variant not specified [RCV004152680] Chr4:75890079 [GRCh38]
Chr4:76811232 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1181T>G (p.Val394Gly) single nucleotide variant not specified [RCV004082554] Chr4:75876426 [GRCh38]
Chr4:76797579 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.110T>C (p.Leu37Pro) single nucleotide variant not specified [RCV004125638] Chr4:75891924 [GRCh38]
Chr4:76813077 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.496G>T (p.Val166Phe) single nucleotide variant not specified [RCV004112449] Chr4:75888250 [GRCh38]
Chr4:76809403 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.839T>C (p.Leu280Pro) single nucleotide variant not specified [RCV004173218] Chr4:75883020 [GRCh38]
Chr4:76804173 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1975A>T (p.Thr659Ser) single nucleotide variant not specified [RCV004077367] Chr4:75864473 [GRCh38]
Chr4:76785626 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1370C>G (p.Ala457Gly) single nucleotide variant not specified [RCV004279016] Chr4:75873263 [GRCh38]
Chr4:76794416 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1236G>C (p.Glu412Asp) single nucleotide variant not specified [RCV004267623] Chr4:75876371 [GRCh38]
Chr4:76797524 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1517T>C (p.Ile506Thr) single nucleotide variant not specified [RCV004275824] Chr4:75872157 [GRCh38]
Chr4:76793310 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.95G>A (p.Arg32His) single nucleotide variant not specified [RCV004289952] Chr4:75891939 [GRCh38]
Chr4:76813092 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.287A>G (p.Asp96Gly) single nucleotide variant not specified [RCV004340861] Chr4:75890087 [GRCh38]
Chr4:76811240 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1643G>A (p.Arg548Lys) single nucleotide variant not specified [RCV004365292] Chr4:75872031 [GRCh38]
Chr4:76793184 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1631C>A (p.Thr544Lys) single nucleotide variant not specified [RCV004340598] Chr4:75872043 [GRCh38]
Chr4:76793196 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1281C>T (p.Ala427=) single nucleotide variant not provided [RCV003439352] Chr4:75876326 [GRCh38]
Chr4:76797479 [GRCh37]
Chr4:4q21.1		 likely benign
NM_006239.3(PPEF2):c.1671G>A (p.Ser557=) single nucleotide variant not provided [RCV003439351] Chr4:75867398 [GRCh38]
Chr4:76788551 [GRCh37]
Chr4:4q21.1		 likely benign
GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1 copy number loss not specified [RCV003986507] Chr4:74822261..79345650 [GRCh37]
Chr4:4q13.3-21.21		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_006239.3(PPEF2):c.1000G>A (p.Ala334Thr) single nucleotide variant not specified [RCV004506907] Chr4:75876607 [GRCh38]
Chr4:76797760 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1004A>G (p.Asn335Ser) single nucleotide variant not specified [RCV004506908] Chr4:75876603 [GRCh38]
Chr4:76797756 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1088C>T (p.Ser363Phe) single nucleotide variant not specified [RCV004506909] Chr4:75876519 [GRCh38]
Chr4:76797672 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1166A>G (p.Gln389Arg) single nucleotide variant not specified [RCV004506910] Chr4:75876441 [GRCh38]
Chr4:76797594 [GRCh37]
Chr4:4q21.1		 likely benign
NM_006239.3(PPEF2):c.1195G>C (p.Glu399Gln) single nucleotide variant not specified [RCV004506912] Chr4:75876412 [GRCh38]
Chr4:76797565 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1313G>T (p.Trp438Leu) single nucleotide variant not specified [RCV004506914] Chr4:75876294 [GRCh38]
Chr4:76797447 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1282G>A (p.Gly428Arg) single nucleotide variant not specified [RCV004506913] Chr4:75876325 [GRCh38]
Chr4:76797478 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.211G>A (p.Asp71Asn) single nucleotide variant not specified [RCV004506916] Chr4:75891678 [GRCh38]
Chr4:76812831 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.744A>T (p.Leu248Phe) single nucleotide variant not specified [RCV004506918] Chr4:75884596 [GRCh38]
Chr4:76805749 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.94C>T (p.Arg32Cys) single nucleotide variant not specified [RCV004506919] Chr4:75891940 [GRCh38]
Chr4:76813093 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.1595A>G (p.His532Arg) single nucleotide variant not specified [RCV004506915] Chr4:75872079 [GRCh38]
Chr4:76793232 [GRCh37]
Chr4:4q21.1		 uncertain significance
NM_006239.3(PPEF2):c.2144A>G (p.Asn715Ser) single nucleotide variant not specified [RCV004506917] Chr4:75860785 [GRCh38]
Chr4:76781938 [GRCh37]
Chr4:4q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1976
Count of miRNA genes:944
Interacting mature miRNAs:1102
Transcripts:ENST00000286719, ENST00000503352, ENST00000510607, ENST00000511880, ENST00000513324, ENST00000515552
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D4S2314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37476,798,126 - 76,798,288UniSTSGRCh37
Celera474,098,534 - 74,098,760UniSTS
Cytogenetic Map4q21.1UniSTS
HuRef472,550,657 - 72,550,883UniSTS
Marshfield Genetic Map483.92RGD
Marshfield Genetic Map483.92UniSTS
D4S2958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37476,814,565 - 76,814,751UniSTSGRCh37
Build 36477,033,589 - 77,033,775RGDNCBI36
Celera474,115,046 - 74,115,238RGD
Cytogenetic Map4q21.1UniSTS
HuRef472,567,166 - 72,567,358UniSTS
Marshfield Genetic Map483.29UniSTS
Marshfield Genetic Map483.29RGD
Genethon Genetic Map481.9UniSTS
deCODE Assembly Map485.42UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-67702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37476,785,485 - 76,785,642UniSTSGRCh37
Build 36477,004,509 - 77,004,666RGDNCBI36
Celera474,085,875 - 74,086,032RGD
Cytogenetic Map4q21.1UniSTS
HuRef472,537,994 - 72,538,151UniSTS
GeneMap99-GB4 RH Map4450.01UniSTS
NCBI RH Map4875.8UniSTS
G16765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37476,823,263 - 76,823,434UniSTSGRCh37
Build 36477,042,287 - 77,042,458RGDNCBI36
Celera474,123,749 - 74,123,920RGD
Cytogenetic Map4q21.1UniSTS
HuRef472,575,872 - 72,576,043UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium
Low 21 58 6 71 103 9 529 2 369 26 1 1 13 96
Below cutoff 2127 2607 1334 410 1307 256 3898 1894 2943 195 869 1318 159 1151 2535 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000286719   ⟹   ENSP00000286719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl475,859,867 - 75,902,452 (-)Ensembl
RefSeq Acc Id: ENST00000503352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl475,888,301 - 75,890,042 (-)Ensembl
RefSeq Acc Id: ENST00000510607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl475,891,934 - 75,902,571 (-)Ensembl
RefSeq Acc Id: ENST00000511880   ⟹   ENSP00000426186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl475,859,864 - 75,902,423 (-)Ensembl
RefSeq Acc Id: ENST00000513324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl475,882,753 - 75,884,823 (-)Ensembl
RefSeq Acc Id: ENST00000515552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl475,882,949 - 75,883,532 (-)Ensembl
RefSeq Acc Id: ENST00000621010   ⟹   ENSP00000483398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl475,866,479 - 75,896,325 (-)Ensembl
RefSeq Acc Id: ENST00000652700   ⟹   ENSP00000498558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl475,860,111 - 75,873,195 (-)Ensembl
RefSeq Acc Id: NM_006239   ⟹   NP_006230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38475,859,867 - 75,902,452 (-)NCBI
GRCh37476,781,025 - 76,823,681 (-)RGD
Build 36477,000,049 - 77,042,705 (-)NCBI Archive
Celera474,081,428 - 74,124,167 (-)RGD
HuRef472,533,638 - 72,576,290 (-)RGD
CHM1_1476,757,660 - 76,800,341 (-)NCBI
T2T-CHM13v2.0479,199,974 - 79,242,943 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011532039   ⟹   XP_011530341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38475,860,376 - 75,901,163 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054350267   ⟹   XP_054206242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0479,200,483 - 79,241,655 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_006230   ⟸   NM_006239
- UniProtKB: O14831 (UniProtKB/Swiss-Prot),   O14830 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011530341   ⟸   XM_011532039
- Peptide Label: isoform X1
- UniProtKB: O14831 (UniProtKB/Swiss-Prot),   O14830 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000483398   ⟸   ENST00000621010
RefSeq Acc Id: ENSP00000498558   ⟸   ENST00000652700
RefSeq Acc Id: ENSP00000286719   ⟸   ENST00000286719
RefSeq Acc Id: ENSP00000426186   ⟸   ENST00000511880
RefSeq Acc Id: XP_054206242   ⟸   XM_054350267
- Peptide Label: isoform X1
Protein Domains
EF-hand   IQ

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14830-F1-model_v2 AlphaFold O14830 1-753 view protein structure

Promoters
RGD ID:6867756
Promoter ID:EPDNEW_H7043
Type:initiation region
Name:PPEF2_1
Description:protein phosphatase with EF-hand domain 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38475,902,452 - 75,902,512EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9244 AgrOrtholog
COSMIC PPEF2 COSMIC
Ensembl Genes ENSG00000156194 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000286719 ENTREZGENE
  ENST00000286719.12 UniProtKB/Swiss-Prot
  ENST00000511880.7 UniProtKB/TrEMBL
  ENST00000652700.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.21.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156194 GTEx
HGNC ID HGNC:9244 ENTREZGENE
Human Proteome Map PPEF2 Human Proteome Map
InterPro Calcineurin-like_PHP_ApaH UniProtKB/Swiss-Prot
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IQ_motif_EF-hand-BS UniProtKB/TrEMBL
  Metallo-depent_PP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPP_dom UniProtKB/Swiss-Prot
  Ser/Thr-Pase_EF-hand_contain UniProtKB/Swiss-Prot
  Ser/Thr-sp_prot-phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5470 UniProtKB/Swiss-Prot
NCBI Gene 5470 ENTREZGENE
OMIM 602256 OMIM
PANTHER SERINE/THREONINE-PROTEIN PHOSPHATASE 5-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN PHOSPHATASE WITH EF-HANDS 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metallophos UniProtKB/Swiss-Prot
  PF00612 UniProtKB/TrEMBL
  PPP5 UniProtKB/Swiss-Prot
PharmGKB PA33565 PharmGKB
PIRSF PPEF UniProtKB/Swiss-Prot
PRINTS STPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SER_THR_PHOSPHATASE UniProtKB/Swiss-Prot
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2Ac UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C0J1_HUMAN UniProtKB/TrEMBL
  E7EPQ9_HUMAN UniProtKB/TrEMBL
  O14830 ENTREZGENE
  O14831 ENTREZGENE
  PPE2_HUMAN UniProtKB/Swiss-Prot
  Q14DF6_HUMAN UniProtKB/TrEMBL
UniProt Secondary O14831 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 PPEF2  protein phosphatase with EF-hand domain 2  PPEF2  protein phosphatase, EF-hand calcium binding domain 2  Symbol and/or name change 5135510 APPROVED