PIP4P2 (phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2) - Rat Genome Database

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Gene: PIP4P2 (phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2) Homo sapiens
Analyze
Symbol: PIP4P2
Name: phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2
RGD ID: 1602110
HGNC Page HGNC
Description: Exhibits phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity. Involved in phosphatidylinositol dephosphorylation. Localizes to late endosome membrane and lysosomal membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp762O076; PtdIns-4,5-P(2) 4-phosphatase type II; ptdIns-4,5-P2 4-Ptase II; TMEM55A; transmembrane protein 55A; type 2 phosphatidylinositol 4,5-bisphosphate 4-phosphatase; type 2 PtdIns-4,5-P2 4-Ptase; type II phosphatidylinositol 4,5-bisphosphate 4-phosphatase; type II phosphatidylinositol-4,5-bisphosphate 4-phosphatase; type II PtdIns-4,5-P(2) 4-phosphatase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl890,993,802 - 91,040,872 (-)EnsemblGRCh38hg38GRCh38
GRCh38890,993,802 - 91,040,896 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37892,006,030 - 92,053,087 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36892,075,675 - 92,122,227 (-)NCBINCBI36hg18NCBI36
Celera888,201,253 - 88,248,229 (-)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,216,426 - 87,263,709 (-)NCBIHuRef
CHM1_1892,047,148 - 92,093,868 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:15489334   PMID:16344560   PMID:16365287   PMID:17207965   PMID:19953087   PMID:20164180   PMID:22810586   PMID:25544563   PMID:26275350   PMID:27173435   PMID:28514442  
PMID:30471916   PMID:31900314   PMID:32296183  


Genomics

Comparative Map Data
PIP4P2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl890,993,802 - 91,040,872 (-)EnsemblGRCh38hg38GRCh38
GRCh38890,993,802 - 91,040,896 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37892,006,030 - 92,053,087 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36892,075,675 - 92,122,227 (-)NCBINCBI36hg18NCBI36
Celera888,201,253 - 88,248,229 (-)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,216,426 - 87,263,709 (-)NCBIHuRef
CHM1_1892,047,148 - 92,093,868 (-)NCBICHM1_1
Pip4p2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39414,864,219 - 14,915,501 (+)NCBIGRCm39mm39
GRCm39 Ensembl414,864,076 - 14,915,176 (+)Ensembl
GRCm38414,864,219 - 14,915,260 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl414,864,076 - 14,915,176 (+)EnsemblGRCm38mm10GRCm38
MGSCv37414,791,366 - 14,842,407 (+)NCBIGRCm37mm9NCBIm37
MGSCv36414,791,366 - 14,842,407 (+)NCBImm8
Celera414,666,242 - 14,716,763 (+)NCBICelera
Cytogenetic Map4A1NCBI
Pip4p2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2528,259,821 - 28,307,225 (+)NCBI
Rnor_6.0 Ensembl528,395,296 - 28,442,924 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0528,395,517 - 28,442,924 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0533,079,533 - 33,126,623 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4529,329,329 - 29,376,733 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1529,329,328 - 29,376,729 (+)NCBI
Celera527,511,708 - 27,556,541 (+)NCBICelera
Cytogenetic Map5q13NCBI
Pip4p2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554177,771,218 - 7,825,799 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554177,769,365 - 7,825,892 (-)NCBIChiLan1.0ChiLan1.0
PIP4P2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1889,610,315 - 89,640,736 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl889,611,726 - 89,639,419 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0887,657,202 - 87,704,355 (-)NCBIMhudiblu_PPA_v0panPan3
PIP4P2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12936,376,211 - 36,410,680 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2936,377,413 - 36,419,132 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2936,528,349 - 36,584,476 (-)NCBI
ROS_Cfam_1.02936,577,248 - 36,633,018 (-)NCBI
UMICH_Zoey_3.12936,597,823 - 36,653,297 (-)NCBI
UNSW_CanFamBas_1.02936,579,206 - 36,635,139 (-)NCBI
UU_Cfam_GSD_1.02937,017,626 - 37,073,778 (-)NCBI
Pip4p2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530343,122,960 - 43,172,916 (+)NCBI
SpeTri2.0NW_0049365444,621,222 - 4,669,808 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIP4P2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl445,826,326 - 45,892,417 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1445,825,415 - 45,891,192 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2449,447,375 - 49,512,725 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIP4P2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1886,059,522 - 86,111,027 (-)NCBI
ChlSab1.1 Ensembl886,059,397 - 86,107,014 (-)Ensembl
Vero_WHO_p1.0NW_02366603954,723,306 - 54,803,988 (+)NCBI
Pip4p2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624744924,211 - 978,625 (+)NCBI

Position Markers
SHGC-36796  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,006,544 - 92,006,627UniSTSGRCh37
Build 36892,075,720 - 92,075,803RGDNCBI36
Celera888,201,298 - 88,201,381RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,216,471 - 87,216,554UniSTS
GeneMap99-G3 RH Map83528.0UniSTS
D20S201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,023,130 - 92,023,371UniSTSGRCh37
Build 36892,092,306 - 92,092,547RGDNCBI36
Celera888,217,883 - 88,218,117RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,233,056 - 87,233,310UniSTS
Marshfield Genetic Map8103.69UniSTS
Whitehead-RH Map8545.0UniSTS
Whitehead-YAC Contig Map8 UniSTS
D8S1146  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,023,132 - 92,023,371UniSTSGRCh37
Build 36892,092,308 - 92,092,547RGDNCBI36
Celera888,217,885 - 88,218,117RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,233,058 - 87,233,310UniSTS
Whitehead-RH Map8535.7UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH102431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,007,770 - 92,007,949UniSTSGRCh37
Build 36892,076,946 - 92,077,125RGDNCBI36
Celera888,202,523 - 88,202,702RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,217,696 - 87,217,875UniSTS
GeneMap99-GB4 RH Map8430.32UniSTS
WI-16423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,006,037 - 92,006,165UniSTSGRCh37
Build 36892,075,213 - 92,075,341RGDNCBI36
Celera888,200,791 - 88,200,919RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,215,964 - 87,216,092UniSTS
GeneMap99-GB4 RH Map8427.09UniSTS
Whitehead-RH Map8535.8UniSTS
NCBI RH Map8899.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1633
Count of miRNA genes:734
Interacting mature miRNAs:846
Transcripts:ENST00000285419, ENST00000518359, ENST00000518869, ENST00000520014, ENST00000520709
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


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 pharyngeal arch
High
Medium 1565 2225 626 53 1287 48 2431 1051 2939 224 795 518 16 1 884 1512 3 2
Low 862 764 1076 547 659 393 1926 1144 795 193 660 1089 158 320 1276 3
Below cutoff 7 2 24 24 4 24 2 2 4 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000285419   ⟹   ENSP00000285419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,993,802 - 91,040,859 (-)Ensembl
RefSeq Acc Id: ENST00000518359   ⟹   ENSP00000429280
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,995,593 - 91,040,811 (-)Ensembl
RefSeq Acc Id: ENST00000518869   ⟹   ENSP00000429112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,995,811 - 91,040,872 (-)Ensembl
RefSeq Acc Id: ENST00000520014   ⟹   ENSP00000427974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,995,717 - 91,040,835 (-)Ensembl
RefSeq Acc Id: ENST00000520709   ⟹   ENSP00000430707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl890,995,524 - 91,040,851 (-)Ensembl
RefSeq Acc Id: ENST00000630164   ⟹   ENSP00000486788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,024,302 - 91,040,749 (-)Ensembl
RefSeq Acc Id: NM_018710   ⟹   NP_061180
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38890,993,802 - 91,040,859 (-)NCBI
GRCh37892,006,499 - 92,053,203 (-)RGD
Build 36892,075,675 - 92,122,227 (-)NCBI Archive
Celera888,201,253 - 88,248,229 (-)RGD
HuRef887,216,426 - 87,263,709 (-)RGD
CHM1_1892,047,148 - 92,093,868 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517152   ⟹   XP_011515454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,006,987 - 91,040,896 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061180   ⟸   NM_018710
- UniProtKB: Q8N4L2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515454   ⟸   XM_011517152
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000429112   ⟸   ENST00000518869
RefSeq Acc Id: ENSP00000429280   ⟸   ENST00000518359
RefSeq Acc Id: ENSP00000427974   ⟸   ENST00000520014
RefSeq Acc Id: ENSP00000430707   ⟸   ENST00000520709
RefSeq Acc Id: ENSP00000285419   ⟸   ENST00000285419
RefSeq Acc Id: ENSP00000486788   ⟸   ENST00000630164

Promoters
RGD ID:7213737
Promoter ID:EPDNEW_H12614
Type:initiation region
Name:TMEM55A_2
Description:transmembrane protein 55A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12615  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,040,859 - 91,040,919EPDNEW
RGD ID:6807061
Promoter ID:HG_KWN:61678
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018710
Position:
Human AssemblyChrPosition (strand)Source
Build 36892,121,949 - 92,122,449 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.3(chr8:90543310-91144982)x1 copy number loss See cases [RCV000143683] Chr8:90543310..91144982 [GRCh38]
Chr8:91555538..92157210 [GRCh37]
Chr8:91624714..92226386 [NCBI36]
Chr8:8q21.3
likely benign|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3(chr8:91080027-92129950)x3 copy number gain See cases [RCV000510205] Chr8:91080027..92129950 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)x1 copy number loss not provided [RCV000683011] Chr8:91914994..93365750 [GRCh37]
Chr8:8q21.3-22.1
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25452 AgrOrtholog
COSMIC PIP4P2 COSMIC
Ensembl Genes ENSG00000155099 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000285419 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427974 UniProtKB/TrEMBL
  ENSP00000429112 UniProtKB/TrEMBL
  ENSP00000429280 UniProtKB/TrEMBL
  ENSP00000430707 UniProtKB/TrEMBL
  ENSP00000486788 UniProtKB/TrEMBL
Ensembl Transcript ENST00000285419 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518359 UniProtKB/TrEMBL
  ENST00000518869 UniProtKB/TrEMBL
  ENST00000520014 UniProtKB/TrEMBL
  ENST00000520709 UniProtKB/TrEMBL
  ENST00000630164 UniProtKB/TrEMBL
GTEx ENSG00000155099 GTEx
HGNC ID HGNC:25452 ENTREZGENE
Human Proteome Map PIP4P2 Human Proteome Map
InterPro PtdIns-P2-Ptase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55529 UniProtKB/Swiss-Prot
NCBI Gene 55529 ENTREZGENE
OMIM 609864 OMIM
PANTHER PTHR21014 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tmemb_55A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670771 PharmGKB
UniProt E5RFT4_HUMAN UniProtKB/TrEMBL
  E5RIP9_HUMAN UniProtKB/TrEMBL
  E5RIY0_HUMAN UniProtKB/TrEMBL
  E5RJC2_HUMAN UniProtKB/TrEMBL
  PP4P2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R9H4 UniProtKB/Swiss-Prot
  Q68CU2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-07-27 PIP4P2  phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2  TMEM55A  transmembrane protein 55A  Symbol and/or name change 5135510 APPROVED
2011-09-01 TMEM55A  transmembrane protein 55A  TMEM55A  transmembrane protein 55A  Symbol and/or name change 5135510 APPROVED