PIP4K2A (phosphatidylinositol-5-phosphate 4-kinase type 2 alpha) - Rat Genome Database
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Gene: PIP4K2A (phosphatidylinositol-5-phosphate 4-kinase type 2 alpha) Homo sapiens
Analyze
Symbol: PIP4K2A
Name: phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
RGD ID: 734348
HGNC Page HGNC
Description: Exhibits 1-phosphatidylinositol-4-phosphate 5-kinase activity; 1-phosphatidylinositol-5-phosphate 4-kinase activity; and protein homodimerization activity. Involved in several processes, including 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of 1-phosphatidylinositol-4-phosphate 5-kinase activity; and positive regulation of autophagosome assembly. Localizes to autophagosome; cytosol; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha; 1-phosphatidylinositol-4-phosphate kinase; 1-phosphatidylinositol-4-phosphate-5-kinase; 1-phosphatidylinositol-5-phosphate 4-kinase 2-alpha; diphosphoinositide kinase 2-alpha; FLJ13267; phosphatidylinositol 5-phosphate 4-kinase type II alpha; phosphatidylinositol 5-phosphate 4-kinase type-2 alpha; phosphatidylinositol-4-phosphate 5-kinase, type II, alpha; phosphatidylinositol-5-phosphate 4-kinase type-2 alpha; phosphatidylinositol-5-phosphate 4-kinase, type II, alpha; PI(5)P 4-kinase type II alpha; PI5P4KA; PI5P4Kalpha; PIP4KII-alpha; PIP5K2A; PIP5KII-alpha; PIP5KIIA; PIP5KIIalpha; PIP5KIII; PIPK; PtdIns(4)P-5-kinase B isoform; ptdIns(4)P-5-kinase C isoform; ptdIns(5)P-4-kinase isoform 2-alpha; type II phosphatidylinositol-4-phosphate 5-kinase 53 K isoform
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 Ensembl1022,534,854 - 22,714,578 (-)EnsemblGRCh38hg38GRCh38
GRCh381022,534,854 - 22,714,578 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371022,823,783 - 23,003,507 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361022,863,772 - 23,043,509 (-)NCBINCBI36hg18NCBI36
Build 341022,865,828 - 23,043,490NCBI
Celera1022,511,468 - 22,691,158 (-)NCBI
Cytogenetic Map10p12.2NCBI
HuRef1022,484,658 - 22,664,398 (-)NCBIHuRef
CHM1_11022,824,227 - 23,003,964 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
melanoma  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7629060   PMID:7639683   PMID:7852364   PMID:8869744   PMID:9367159   PMID:12477932   PMID:12509423   PMID:12747804   PMID:14582145   PMID:14614850   PMID:14614854   PMID:14702039  
PMID:15046600   PMID:15164054   PMID:15489334   PMID:16094259   PMID:16385451   PMID:16801950   PMID:16823801   PMID:17410640   PMID:17555944   PMID:18314871   PMID:18364242   PMID:18545987  
PMID:19328558   PMID:19475563   PMID:19490893   PMID:19644675   PMID:19656170   PMID:19937977   PMID:20379614   PMID:20583997   PMID:21041608   PMID:21124964   PMID:21377334   PMID:21988832  
PMID:22190034   PMID:22952844   PMID:23251661   PMID:23455922   PMID:23739505   PMID:23758345   PMID:23996088   PMID:24081551   PMID:24086693   PMID:24209622   PMID:24366813   PMID:24681948  
PMID:24788727   PMID:25025909   PMID:25281560   PMID:25495341   PMID:25544563   PMID:25548108   PMID:25578879   PMID:25693804   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26774281  
PMID:26885983   PMID:27149463   PMID:28476190   PMID:28514442   PMID:29353240   PMID:29440432   PMID:29467282   PMID:29518392   PMID:29791485   PMID:29923177   PMID:30463901   PMID:30718367  
PMID:30898893   PMID:31091439   PMID:31109595   PMID:31239290   PMID:31540324   PMID:31753913   PMID:31822558   PMID:32130941   PMID:32218783   PMID:32296183   PMID:33092542  


Genomics

Comparative Map Data
PIP4K2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1022,534,854 - 22,714,578 (-)EnsemblGRCh38hg38GRCh38
GRCh381022,534,854 - 22,714,578 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371022,823,783 - 23,003,507 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361022,863,772 - 23,043,509 (-)NCBINCBI36hg18NCBI36
Build 341022,865,828 - 23,043,490NCBI
Celera1022,511,468 - 22,691,158 (-)NCBI
Cytogenetic Map10p12.2NCBI
HuRef1022,484,658 - 22,664,398 (-)NCBIHuRef
CHM1_11022,824,227 - 23,003,964 (-)NCBICHM1_1
Pip4k2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39218,847,066 - 19,003,101 (-)NCBIGRCm39mm39
GRCm39 Ensembl218,847,066 - 19,002,937 (-)Ensembl
GRCm38218,842,255 - 18,998,291 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl218,842,255 - 18,998,126 (-)EnsemblGRCm38mm10GRCm38
MGSCv37218,763,883 - 18,919,748 (-)NCBIGRCm37mm9NCBIm37
MGSCv36218,760,014 - 18,915,870 (-)NCBImm8
Celera218,734,163 - 18,892,750 (-)NCBICelera
Cytogenetic Map2A3NCBI
Pip4k2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21781,496,669 - 81,668,180 (-)NCBI
Rnor_6.01785,533,056 - 85,748,843 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01787,260,013 - 87,284,895 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01787,360,739 - 87,463,987 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41792,950,531 - 93,111,944 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11792,963,045 - 93,122,777NCBI
Celera1780,777,213 - 80,940,203 (-)NCBICelera
Cytogenetic Map17q12.3NCBI
Pip4k2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554296,336,355 - 6,399,672 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554296,231,135 - 6,399,672 (+)NCBIChiLan1.0ChiLan1.0
PIP4K2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11023,066,771 - 23,141,230 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01022,691,355 - 22,870,628 (-)NCBIMhudiblu_PPA_v0panPan3
PIP4K2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1210,464,019 - 10,642,365 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl210,463,010 - 10,640,327 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha29,157,521 - 9,335,592 (+)NCBI
ROS_Cfam_1.028,663,138 - 8,841,553 (+)NCBI
UMICH_Zoey_3.128,027,620 - 8,205,381 (+)NCBI
UNSW_CanFamBas_1.028,110,958 - 8,289,331 (+)NCBI
UU_Cfam_GSD_1.028,279,324 - 8,457,701 (+)NCBI
Pip4k2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_02440934422,420,301 - 22,576,740 (-)NCBI
SpeTri2.0NW_0049365205,383,737 - 5,540,176 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIP4K2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1052,223,425 - 52,408,922 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11052,224,367 - 52,408,928 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21057,880,198 - 58,064,685 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PIP4K2A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1922,306,307 - 22,482,074 (-)NCBI
ChlSab1.1 Ensembl922,306,312 - 22,481,954 (-)Ensembl
Pip4k2a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247965,963,005 - 6,113,081 (+)NCBI

Position Markers
D10S553  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,960,572 - 22,960,752UniSTSGRCh37
GRCh371022,960,612 - 22,960,826UniSTSGRCh37
Build 361023,000,618 - 23,000,832RGDNCBI36
Celera1022,648,264 - 22,648,478RGD
Celera1022,648,224 - 22,648,404UniSTS
Cytogenetic Map10p12.2UniSTS
HuRef1022,621,193 - 22,621,407UniSTS
HuRef1022,621,153 - 22,621,333UniSTS
Marshfield Genetic Map1048.36RGD
Genethon Genetic Map1043.4UniSTS
TNG Radiation Hybrid Map1011774.0UniSTS
Stanford-G3 RH Map101170.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
GeneMap99-G3 RH Map101170.0UniSTS
D10S1662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,936,024 - 22,936,294UniSTSGRCh37
Build 361022,976,030 - 22,976,300RGDNCBI36
Celera1022,623,684 - 22,623,946RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,596,635 - 22,596,897UniSTS
Marshfield Genetic Map1048.36UniSTS
Marshfield Genetic Map1048.36RGD
Genethon Genetic Map1046.2UniSTS
deCODE Assembly Map1046.42UniSTS
Stanford-G3 RH Map101174.0UniSTS
GeneMap99-GB4 RH Map10134.75UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10350.1UniSTS
GeneMap99-G3 RH Map101174.0UniSTS
WIAF-1715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,825,264 - 22,825,383UniSTSGRCh37
Build 361022,865,270 - 22,865,389RGDNCBI36
Celera1022,512,965 - 22,513,084RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,486,155 - 22,486,274UniSTS
GeneMap99-GB4 RH Map10133.58UniSTS
SHGC-58154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,889,260 - 22,889,412UniSTSGRCh37
Build 361022,929,266 - 22,929,418RGDNCBI36
Celera1022,576,937 - 22,577,089RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,549,988 - 22,550,140UniSTS
TNG Radiation Hybrid Map1011765.0UniSTS
RH70570  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,825,936 - 22,826,093UniSTSGRCh37
Build 361022,865,942 - 22,866,099RGDNCBI36
Celera1022,513,639 - 22,513,796RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,486,846 - 22,487,003UniSTS
GeneMap99-GB4 RH Map10133.8UniSTS
NCBI RH Map10351.2UniSTS
STS-H93068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,838,973 - 22,839,146UniSTSGRCh37
Build 361022,878,979 - 22,879,152RGDNCBI36
Celera1022,526,662 - 22,526,835RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,499,864 - 22,500,037UniSTS
GeneMap99-GB4 RH Map10134.3UniSTS
RH46424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,875,202 - 22,875,322UniSTSGRCh37
Build 361022,915,208 - 22,915,328RGDNCBI36
Celera1022,562,880 - 22,563,000RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,536,105 - 22,536,225UniSTS
SHGC-84121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,832,531 - 22,832,830UniSTSGRCh37
Build 361022,872,537 - 22,872,836RGDNCBI36
Celera1022,520,234 - 22,520,533RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,493,440 - 22,493,739UniSTS
TNG Radiation Hybrid Map1011756.0UniSTS
G63324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,985,878 - 22,986,190UniSTSGRCh37
Build 361023,025,884 - 23,026,196RGDNCBI36
Celera1022,673,533 - 22,673,845RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,646,771 - 22,647,083UniSTS
TNG Radiation Hybrid Map1011789.0UniSTS
D10S1522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,874,448 - 22,874,531UniSTSGRCh37
Build 361022,914,454 - 22,914,537RGDNCBI36
Celera1022,562,126 - 22,562,209RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,535,353 - 22,535,436UniSTS
D10S1621E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,826,056 - 22,826,145UniSTSGRCh37
Build 361022,866,062 - 22,866,151RGDNCBI36
Celera1022,513,759 - 22,513,848RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,486,966 - 22,487,055UniSTS
SHGC-132136  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,825,932 - 22,826,040UniSTSGRCh37
Build 361022,865,938 - 22,866,046RGDNCBI36
Celera1022,513,635 - 22,513,743RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,486,842 - 22,486,950UniSTS
TNG Radiation Hybrid Map1011759.0UniSTS
A006T43  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,825,343 - 22,825,627UniSTSGRCh37
Build 361022,865,349 - 22,865,633RGDNCBI36
Celera1022,513,044 - 22,513,328RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,486,234 - 22,486,518UniSTS
GeneMap99-GB4 RH Map10133.58UniSTS
D10S1568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,825,933 - 22,826,039UniSTSGRCh37
Build 361022,865,939 - 22,866,045RGDNCBI36
Celera1022,513,636 - 22,513,742RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,486,843 - 22,486,949UniSTS
GeneMap99-GB4 RH Map10135.63UniSTS
Whitehead-RH Map10146.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH78590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,824,142 - 22,824,324UniSTSGRCh37
Build 361022,864,148 - 22,864,330RGDNCBI36
Celera1022,511,844 - 22,512,026RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,485,034 - 22,485,216UniSTS
GeneMap99-GB4 RH Map10134.35UniSTS
D10S2371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,825,823 - 22,825,994UniSTSGRCh37
Build 361022,865,829 - 22,866,000RGDNCBI36
Celera1022,513,526 - 22,513,697RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,486,733 - 22,486,904UniSTS
Stanford-G3 RH Map10991.0UniSTS
GeneMap99-G3 RH Map10991.0UniSTS
D10S1259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,877,410 - 22,877,627UniSTSGRCh37
Build 361022,917,416 - 22,917,633RGDNCBI36
Celera1022,565,088 - 22,565,305RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,538,313 - 22,538,530UniSTS
Whitehead-YAC Contig Map10 UniSTS
SHGC-54644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,998,277 - 22,998,499UniSTSGRCh37
Build 361023,038,283 - 23,038,505RGDNCBI36
Celera1022,685,932 - 22,686,154RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,659,172 - 22,659,394UniSTS
TNG Radiation Hybrid Map1011802.0UniSTS
SHGC-33797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371022,825,507 - 22,825,638UniSTSGRCh37
Build 361022,865,513 - 22,865,644RGDNCBI36
Celera1022,513,208 - 22,513,339RGD
Cytogenetic Map10p12.2UniSTS
HuRef1022,486,398 - 22,486,529UniSTS
Stanford-G3 RH Map101154.0UniSTS
NCBI RH Map10347.0UniSTS
GeneMap99-G3 RH Map101154.0UniSTS
D10S553  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.2UniSTS
Marshfield Genetic Map1048.36UniSTS
Genethon Genetic Map1043.4UniSTS
Whitehead-YAC Contig Map10 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2088
Count of miRNA genes:999
Interacting mature miRNAs:1190
Transcripts:ENST00000323883, ENST00000376573, ENST00000422321, ENST00000432610, ENST00000474335, ENST00000545335, ENST00000604912, ENST00000605011
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 2019 2299 1290 227 1930 165 2880 947 3613 316 1132 1575 77 1182 1690 2
Low 420 692 436 397 20 300 1476 1250 121 103 328 38 98 1 22 1098 3 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001330062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK023329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB504104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF445009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY318006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U14957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323883   ⟹   ENSP00000326294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1022,536,738 - 22,591,713 (-)Ensembl
RefSeq Acc Id: ENST00000376573   ⟹   ENSP00000365757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1022,534,854 - 22,714,578 (-)Ensembl
RefSeq Acc Id: ENST00000422321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1022,567,537 - 22,609,717 (-)Ensembl
RefSeq Acc Id: ENST00000432610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1022,607,818 - 22,609,717 (-)Ensembl
RefSeq Acc Id: ENST00000474335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1022,536,893 - 22,539,635 (-)Ensembl
RefSeq Acc Id: ENST00000545335   ⟹   ENSP00000442098
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1022,537,015 - 22,714,108 (-)Ensembl
RefSeq Acc Id: ENST00000604912   ⟹   ENSP00000473858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1022,541,952 - 22,591,675 (-)Ensembl
RefSeq Acc Id: ENST00000605011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1022,642,022 - 22,691,830 (-)Ensembl
RefSeq Acc Id: NM_001330062   ⟹   NP_001316991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381022,534,854 - 22,714,108 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005028   ⟹   NP_005019
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381022,534,854 - 22,714,578 (-)NCBI
GRCh371022,823,766 - 23,003,503 (-)ENTREZGENE
GRCh371022,823,766 - 23,003,503 (-)NCBI
Build 361022,863,772 - 23,043,509 (-)NCBI Archive
HuRef1022,484,658 - 22,664,398 (-)ENTREZGENE
CHM1_11022,824,227 - 23,003,964 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006717450   ⟹   XP_006717513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381022,534,854 - 22,714,569 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016330   ⟹   XP_016871819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381022,534,854 - 22,713,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016331   ⟹   XP_016871820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381022,534,854 - 22,622,545 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016332   ⟹   XP_016871821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381022,534,854 - 22,622,411 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005019   ⟸   NM_005028
- Peptide Label: isoform 1
- UniProtKB: P48426 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717513   ⟸   XM_006717450
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016871819   ⟸   XM_017016330
- Peptide Label: isoform X2
- UniProtKB: P48426 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871820   ⟸   XM_017016331
- Peptide Label: isoform X2
- UniProtKB: P48426 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871821   ⟸   XM_017016332
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001316991   ⟸   NM_001330062
- Peptide Label: isoform 2
- UniProtKB: P48426 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000442098   ⟸   ENST00000545335
RefSeq Acc Id: ENSP00000365757   ⟸   ENST00000376573
RefSeq Acc Id: ENSP00000326294   ⟸   ENST00000323883
RefSeq Acc Id: ENSP00000473858   ⟸   ENST00000604912
Protein Domains
PIPK

Promoters
RGD ID:7217171
Promoter ID:EPDNEW_H14332
Type:initiation region
Name:PIP4K2A_1
Description:phosphatidylinositol-5-phosphate 4-kinase type 2 alpha
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
GRCh381022,714,578 - 22,714,638EPDNEW
RGD ID:6787990
Promoter ID:HG_KWN:8846
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000376565,   NM_005028
Position:
Human AssemblyChrPosition (strand)Source
Build 361023,043,241 - 23,043,757 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2
pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 copy number gain See cases [RCV000139427] Chr10:19088161..32732293 [GRCh38]
Chr10:19377090..33021221 [GRCh37]
Chr10:19417096..33061227 [NCBI36]
Chr10:10p12.31-11.22
likely pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p12.31-12.2(chr10:21881989-23129991)x3 copy number gain See cases [RCV000511886] Chr10:21881989..23129991 [GRCh37]
Chr10:10p12.31-12.2
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p12.2(chr10:22770341-23162682)x1 copy number loss not provided [RCV000749534] Chr10:22770341..23162682 [GRCh37]
Chr10:10p12.2
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_005028.5(PIP4K2A):c.339+10G>A single nucleotide variant not provided [RCV000879022] Chr10:22607917 [GRCh38]
Chr10:22896846 [GRCh37]
Chr10:10p12.2
benign
NM_005028.5(PIP4K2A):c.1173A>G (p.Glu391=) single nucleotide variant not provided [RCV000959868] Chr10:22537249 [GRCh38]
Chr10:22826178 [GRCh37]
Chr10:10p12.2
benign
NM_005028.5(PIP4K2A):c.912C>T (p.Ser304=) single nucleotide variant not provided [RCV000959869] Chr10:22541928 [GRCh38]
Chr10:22830857 [GRCh37]
Chr10:10p12.2
benign
NM_005028.5(PIP4K2A):c.979C>A (p.Leu327Met) single nucleotide variant not provided [RCV000894025] Chr10:22541861 [GRCh38]
Chr10:22830790 [GRCh37]
Chr10:10p12.2
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8997 AgrOrtholog
COSMIC PIP4K2A COSMIC
Ensembl Genes ENSG00000150867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000326294 UniProtKB/TrEMBL
  ENSP00000365757 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000442098 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473858 UniProtKB/TrEMBL
Ensembl Transcript ENST00000323883 UniProtKB/TrEMBL
  ENST00000376573 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000545335 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000604912 UniProtKB/TrEMBL
Gene3D-CATH 3.30.800.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.810.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000150867 GTEx
HGNC ID HGNC:8997 ENTREZGENE
Human Proteome Map PIP4K2A Human Proteome Map
InterPro PInositol-4-P-5-kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase_core UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5305 UniProtKB/Swiss-Prot
NCBI Gene 5305 ENTREZGENE
OMIM 603140 OMIM
PANTHER PTHR23086 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PIP5K UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162399615 PharmGKB
PROSITE PIPK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PIPKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H7BXS3_HUMAN UniProtKB/TrEMBL
  L8EAD2_HUMAN UniProtKB/TrEMBL
  P48426 ENTREZGENE, UniProtKB/Swiss-Prot
  S4R320_HUMAN UniProtKB/TrEMBL
UniProt Secondary B0YJ66 UniProtKB/Swiss-Prot
  B4DGX2 UniProtKB/Swiss-Prot
  D3DRV1 UniProtKB/Swiss-Prot
  P53807 UniProtKB/Swiss-Prot
  Q5VUX3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-19 PIP4K2A  phosphatidylinositol-5-phosphate 4-kinase type 2 alpha    phosphatidylinositol-5-phosphate 4-kinase, type II, alpha  Symbol and/or name change 5135510 APPROVED
2011-08-16 PIP4K2A  phosphatidylinositol-5-phosphate 4-kinase, type II, alpha  PIP4K2A  phosphatidylinositol-5-phosphate 4-kinase, type II, alpha  Symbol and/or name change 5135510 APPROVED