PIP4K2C (phosphatidylinositol-5-phosphate 4-kinase type 2 gamma) - Rat Genome Database

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Gene: PIP4K2C (phosphatidylinositol-5-phosphate 4-kinase type 2 gamma) Homo sapiens
Analyze
Symbol: PIP4K2C
Name: phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
RGD ID: 733243
HGNC Page HGNC:23786
Description: Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding activity. Involved in 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process; negative regulation of insulin receptor signaling pathway; and positive regulation of autophagosome assembly. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ22055; phosphatidylinositol 4-phosphate 5-kinase; phosphatidylinositol 5-phosphate 4-kinase type II gamma; phosphatidylinositol 5-phosphate 4-kinase type-2 gamma; phosphatidylinositol-4-phosphate 5-kinase, type II, gamma; phosphatidylinositol-5-phosphate 4-kinase type-2 gamma; phosphatidylinositol-5-phosphate 4-kinase, type II, gamma; PI(5)P 4-kinase type II gamma; PIP4KII-gamma; PIP5K2C
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
GRCh381257,591,192 - 57,603,418 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1257,591,174 - 57,603,418 (+)EnsemblGRCh38hg38GRCh38
GRCh371257,984,975 - 57,997,201 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,271,324 - 56,283,298 (+)NCBINCBI36Build 36hg18NCBI36
Build 341256,271,323 - 56,283,296NCBI
Celera1257,640,774 - 57,653,027 (+)NCBICelera
Cytogenetic Map12q13.3NCBI
HuRef1255,022,647 - 55,034,898 (+)NCBIHuRef
CHM1_11257,952,773 - 57,965,027 (+)NCBICHM1_1
T2T-CHM13v2.01257,559,429 - 57,571,638 (+)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

Molecular Pathway Annotations     Click to see Annotation Detail View
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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:9367159   PMID:12477932   PMID:15046600   PMID:18029348   PMID:18255255   PMID:18570454   PMID:18794853   PMID:19056867   PMID:19322201   PMID:19644859   PMID:20439292  
PMID:21461837   PMID:21832049   PMID:21873635   PMID:23376485   PMID:23455922   PMID:23758345   PMID:23940030   PMID:24366813   PMID:24980433   PMID:24981860   PMID:25281560   PMID:25495341  
PMID:25544563   PMID:25578879   PMID:26186194   PMID:26344197   PMID:26549023   PMID:26774281   PMID:26885983   PMID:27034005   PMID:28514442   PMID:28515276   PMID:28656962   PMID:29128334  
PMID:29395067   PMID:29467282   PMID:30463901   PMID:30554943   PMID:30718367   PMID:31076518   PMID:31091439   PMID:31109595   PMID:31239290   PMID:31753913   PMID:31822558   PMID:31871319  
PMID:31973889   PMID:32374916   PMID:32423001   PMID:32707033   PMID:32994395   PMID:33187986   PMID:33961781   PMID:33995658   PMID:34315543   PMID:34591612   PMID:34597346   PMID:35152003  
PMID:35235311   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35545034   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36273042   PMID:36398662   PMID:36736316   PMID:36898370  
PMID:37827155   PMID:38113892   PMID:38286827   PMID:38580884   PMID:38943005  


Genomics

Comparative Map Data
PIP4K2C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381257,591,192 - 57,603,418 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1257,591,174 - 57,603,418 (+)EnsemblGRCh38hg38GRCh38
GRCh371257,984,975 - 57,997,201 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,271,324 - 56,283,298 (+)NCBINCBI36Build 36hg18NCBI36
Build 341256,271,323 - 56,283,296NCBI
Celera1257,640,774 - 57,653,027 (+)NCBICelera
Cytogenetic Map12q13.3NCBI
HuRef1255,022,647 - 55,034,898 (+)NCBIHuRef
CHM1_11257,952,773 - 57,965,027 (+)NCBICHM1_1
T2T-CHM13v2.01257,559,429 - 57,571,638 (+)NCBIT2T-CHM13v2.0
Pip4k2c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910127,032,936 - 127,047,508 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10127,032,936 - 127,047,454 (-)EnsemblGRCm39 Ensembl
GRCm3810127,197,067 - 127,211,628 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,197,067 - 127,211,585 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710126,634,123 - 126,648,678 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610126,600,016 - 126,614,495 (-)NCBIMGSCv36mm8
Celera10129,590,131 - 129,604,615 (-)NCBICelera
Cytogenetic Map10D3NCBI
cM Map1074.5NCBI
Pip4k2c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8764,905,322 - 64,920,380 (-)NCBIGRCr8
mRatBN7.2763,020,004 - 63,035,086 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl763,020,000 - 63,035,078 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx764,909,290 - 64,924,337 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0767,111,704 - 67,126,752 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0766,912,777 - 66,927,839 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0770,483,948 - 70,498,995 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl770,483,942 - 70,498,995 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0770,661,192 - 70,676,538 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4767,151,468 - 67,166,564 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1767,172,688 - 67,187,294 (-)NCBI
Celera760,161,604 - 60,176,643 (-)NCBICelera
Cytogenetic Map7q22NCBI
Pip4k2c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554585,315,376 - 5,327,617 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554585,315,083 - 5,327,617 (+)NCBIChiLan1.0ChiLan1.0
PIP4K2C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21036,731,185 - 36,749,881 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11236,727,956 - 36,746,652 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01231,323,346 - 31,335,626 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11231,582,725 - 31,594,808 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1231,584,534 - 31,594,808 (-)Ensemblpanpan1.1panPan2
PIP4K2C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1101,670,076 - 1,680,975 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl101,672,380 - 1,680,840 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha101,732,572 - 1,744,119 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0101,678,750 - 1,690,303 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl101,678,723 - 1,690,295 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1101,656,535 - 1,668,086 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0101,898,309 - 1,909,854 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0102,023,523 - 2,035,070 (+)NCBIUU_Cfam_GSD_1.0
Pip4k2c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494557,122,179 - 57,133,168 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366461,737,034 - 1,748,057 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366461,737,088 - 1,748,056 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIP4K2C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl522,854,316 - 22,867,028 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1522,854,142 - 22,867,032 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2524,821,711 - 24,826,063 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PIP4K2C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11153,499,360 - 53,511,610 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1153,499,432 - 53,509,799 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037192,450,528 - 192,462,783 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pip4k2c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480210,359,888 - 10,370,909 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480210,359,891 - 10,370,931 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PIP4K2C
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1 copy number loss See cases [RCV000052813] Chr12:57013355..63042498 [GRCh38]
Chr12:57407139..63436278 [GRCh37]
Chr12:55693406..61722545 [NCBI36]
Chr12:12q13.3-14.2		 pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1 copy number loss See cases [RCV000052814] Chr12:57041158..60273934 [GRCh38]
Chr12:57434942..60667715 [GRCh37]
Chr12:55721209..58953982 [NCBI36]
Chr12:12q13.3-14.1		 pathogenic
PIP4K2C:c.1090C>T single nucleotide variant Malignant melanoma [RCV000070145] Chr12:57601253 [GRCh38]
Chr12:57995036 [GRCh37]
Chr12:56281303 [NCBI36]
Chr12:12q13.3		 not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3 copy number gain not provided [RCV001006505] Chr12:55552371..62126304 [GRCh37]
Chr12:12q13.2-14.1		 pathogenic
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1 copy number loss not provided [RCV001006506] Chr12:57582163..59031979 [GRCh37]
Chr12:12q13.3-14.1		 likely pathogenic
NC_000012.11:g.(?_57881874)_(58190366_?)dup duplication not provided [RCV001916382] Chr12:57881874..58190366 [GRCh37]
Chr12:12q13.3-14.1		 uncertain significance
NC_000012.11:g.(?_57971476)_(58025915_?)dup duplication Spastic paraplegia [RCV003113623] Chr12:57971476..58025915 [GRCh37]
Chr12:12q13.3		 uncertain significance
NC_000012.11:g.(?_57534470)_(58190366_?)dup duplication Familial melanoma [RCV003119257] Chr12:57534470..58190366 [GRCh37]
Chr12:12q13.3-14.1		 uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1 copy number loss not provided [RCV002474565] Chr12:57631073..58236597 [GRCh37]
Chr12:12q13.3-14.1		 likely pathogenic
NM_024779.5(PIP4K2C):c.932G>C (p.Gly311Ala) single nucleotide variant not specified [RCV004172712] Chr12:57600929 [GRCh38]
Chr12:57994712 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.931G>A (p.Gly311Arg) single nucleotide variant not specified [RCV004148883] Chr12:57600928 [GRCh38]
Chr12:57994711 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.850C>A (p.Leu284Met) single nucleotide variant not specified [RCV004149823] Chr12:57600847 [GRCh38]
Chr12:57994630 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.113T>A (p.Val38Glu) single nucleotide variant not specified [RCV004241482] Chr12:57591402 [GRCh38]
Chr12:57985185 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.628C>T (p.Arg210Cys) single nucleotide variant not specified [RCV004201796] Chr12:57599179 [GRCh38]
Chr12:57992962 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.224A>G (p.Asp75Gly) single nucleotide variant not specified [RCV004092452] Chr12:57594074 [GRCh38]
Chr12:57987857 [GRCh37]
Chr12:12q13.3		 uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1 copy number loss not provided [RCV003222783] Chr12:57064059..59314016 [GRCh37]
Chr12:12q13.3-14.1		 likely pathogenic
NM_024779.5(PIP4K2C):c.1061A>C (p.Tyr354Ser) single nucleotide variant not specified [RCV004250181] Chr12:57601058 [GRCh38]
Chr12:57994841 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.11C>T (p.Ser4Phe) single nucleotide variant not specified [RCV004506039] Chr12:57591300 [GRCh38]
Chr12:57985083 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.1214C>T (p.Pro405Leu) single nucleotide variant not specified [RCV004506040] Chr12:57601554 [GRCh38]
Chr12:57995337 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.324C>A (p.Phe108Leu) single nucleotide variant not specified [RCV004506041] Chr12:57595177 [GRCh38]
Chr12:57988960 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.865G>A (p.Asp289Asn) single nucleotide variant not specified [RCV004506043] Chr12:57600862 [GRCh38]
Chr12:57994645 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.61G>T (p.Gly21Cys) single nucleotide variant not specified [RCV004648291] Chr12:57591350 [GRCh38]
Chr12:57985133 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.451A>G (p.Ile151Val) single nucleotide variant not specified [RCV004648292] Chr12:57595969 [GRCh38]
Chr12:57989752 [GRCh37]
Chr12:12q13.3		 uncertain significance
NM_024779.5(PIP4K2C):c.187A>G (p.Ser63Gly) single nucleotide variant not specified [RCV004657259] Chr12:57594037 [GRCh38]
Chr12:57987820 [GRCh37]
Chr12:12q13.3		 uncertain significance
NC_000012.11:g.(?_56711393)_(58190366_?)dup duplication Cataract 15 multiple types [RCV004578366]|Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency [RCV004578368]|Spastic paraplegia [RCV004578367] Chr12:56711393..58190366 [GRCh37]
Chr12:12q13.3-14.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2922
Count of miRNA genes:937
Interacting mature miRNAs:1134
Transcripts:ENST00000354947, ENST00000422156, ENST00000540759, ENST00000548264, ENST00000550095, ENST00000550360, ENST00000550465, ENST00000551772
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407338438GWAS987414_Hurate measurement QTL GWAS987414 (human)8e-12urate measurementblood uric acid level (CMO:0000501)125759970757599708Human
407333268GWAS982244_HIGF-1 measurement QTL GWAS982244 (human)4e-09IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)125759970757599708Human
407236752GWAS885728_Hbody height QTL GWAS885728 (human)2e-09body height (VT:0001253)body height (CMO:0000106)125759970757599708Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1948 465 2270 7303 6469 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001146258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI167420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX754970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX419431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000354947   ⟹   ENSP00000347032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,591,192 - 57,603,418 (+)Ensembl
Ensembl Acc Id: ENST00000422156   ⟹   ENSP00000412035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,591,174 - 57,601,926 (+)Ensembl
Ensembl Acc Id: ENST00000540759   ⟹   ENSP00000439878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,591,203 - 57,603,418 (+)Ensembl
Ensembl Acc Id: ENST00000548264   ⟹   ENSP00000449538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,599,090 - 57,600,977 (+)Ensembl
Ensembl Acc Id: ENST00000550095   ⟹   ENSP00000448042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,591,266 - 57,600,436 (+)Ensembl
Ensembl Acc Id: ENST00000550360   ⟹   ENSP00000449335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,591,246 - 57,599,144 (+)Ensembl
Ensembl Acc Id: ENST00000550465   ⟹   ENSP00000447390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,591,243 - 57,601,879 (+)Ensembl
Ensembl Acc Id: ENST00000551772   ⟹   ENSP00000450197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1257,591,222 - 57,599,094 (+)Ensembl
RefSeq Acc Id: NM_001146258   ⟹   NP_001139730
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,192 - 57,603,418 (+)NCBI
GRCh371257,984,942 - 57,997,211 (+)RGD
Celera1257,640,774 - 57,653,027 (+)RGD
HuRef1255,022,647 - 55,034,898 (+)ENTREZGENE
CHM1_11257,952,773 - 57,965,027 (+)NCBI
T2T-CHM13v2.01257,559,429 - 57,571,638 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146259   ⟹   NP_001139731
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,192 - 57,603,418 (+)NCBI
GRCh371257,984,942 - 57,997,211 (+)RGD
Celera1257,640,774 - 57,653,027 (+)RGD
HuRef1255,022,647 - 55,034,898 (+)ENTREZGENE
CHM1_11257,952,773 - 57,965,027 (+)NCBI
T2T-CHM13v2.01257,559,429 - 57,571,638 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146260   ⟹   NP_001139732
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,192 - 57,603,418 (+)NCBI
GRCh371257,984,942 - 57,997,211 (+)RGD
Celera1257,640,774 - 57,653,027 (+)RGD
HuRef1255,022,647 - 55,034,898 (+)ENTREZGENE
CHM1_11257,952,773 - 57,965,027 (+)NCBI
T2T-CHM13v2.01257,559,429 - 57,571,638 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024779   ⟹   NP_079055
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,192 - 57,603,418 (+)NCBI
GRCh371257,984,942 - 57,997,211 (+)RGD
Build 361256,271,324 - 56,283,298 (+)NCBI Archive
Celera1257,640,774 - 57,653,027 (+)RGD
HuRef1255,022,647 - 55,034,898 (+)ENTREZGENE
CHM1_11257,952,773 - 57,965,027 (+)NCBI
T2T-CHM13v2.01257,559,429 - 57,571,638 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269152   ⟹   XP_005269209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,192 - 57,603,418 (+)NCBI
GRCh371257,984,942 - 57,997,211 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538747   ⟹   XP_011537049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,192 - 57,599,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429551   ⟹   XP_047285507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,592,220 - 57,603,418 (+)NCBI
RefSeq Acc Id: XM_047429552   ⟹   XP_047285508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,597,958 - 57,603,418 (+)NCBI
RefSeq Acc Id: XM_054373244   ⟹   XP_054229219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,559,429 - 57,571,638 (+)NCBI
RefSeq Acc Id: XM_054373245   ⟹   XP_054229220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,560,457 - 57,571,638 (+)NCBI
RefSeq Acc Id: XM_054373246   ⟹   XP_054229221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,566,192 - 57,571,638 (+)NCBI
RefSeq Acc Id: XM_054373247   ⟹   XP_054229222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01257,559,429 - 57,568,049 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001139730 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139731 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139732 (Get FASTA)   NCBI Sequence Viewer  
  NP_079055 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269209 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537049 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285507 (Get FASTA)   NCBI Sequence Viewer  
  XP_047285508 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229219 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229221 (Get FASTA)   NCBI Sequence Viewer  
  XP_054229222 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH28596 (Get FASTA)   NCBI Sequence Viewer  
  BAB15223 (Get FASTA)   NCBI Sequence Viewer  
  BAG37960 (Get FASTA)   NCBI Sequence Viewer  
  BAG52165 (Get FASTA)   NCBI Sequence Viewer  
  BAG54209 (Get FASTA)   NCBI Sequence Viewer  
  BAG59723 (Get FASTA)   NCBI Sequence Viewer  
  BAG63606 (Get FASTA)   NCBI Sequence Viewer  
  CAD99241 (Get FASTA)   NCBI Sequence Viewer  
  EAW97031 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347032
  ENSP00000347032.5
  ENSP00000412035
  ENSP00000412035.3
  ENSP00000439878
  ENSP00000439878.2
  ENSP00000447390
  ENSP00000447390.1
  ENSP00000448042.1
  ENSP00000449335.1
  ENSP00000449538.1
  ENSP00000450197.1
GenBank Protein Q8TBX8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079055   ⟸   NM_024779
- Peptide Label: isoform a
- UniProtKB: B4DY44 (UniProtKB/Swiss-Prot),   B4DM11 (UniProtKB/Swiss-Prot),   B2RDL3 (UniProtKB/Swiss-Prot),   Q9H6N2 (UniProtKB/Swiss-Prot),   Q8TBX8 (UniProtKB/Swiss-Prot),   B3KWP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139730   ⟸   NM_001146258
- Peptide Label: isoform a
- UniProtKB: B4DY44 (UniProtKB/Swiss-Prot),   B4DM11 (UniProtKB/Swiss-Prot),   B2RDL3 (UniProtKB/Swiss-Prot),   Q9H6N2 (UniProtKB/Swiss-Prot),   Q8TBX8 (UniProtKB/Swiss-Prot),   B3KWP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139731   ⟸   NM_001146259
- Peptide Label: isoform b
- UniProtKB: B3KWP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139732   ⟸   NM_001146260
- Peptide Label: isoform c
- UniProtKB: B3KWP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269209   ⟸   XM_005269152
- Peptide Label: isoform X1
- UniProtKB: B3KWP7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011537049   ⟸   XM_011538747
- Peptide Label: isoform X4
- UniProtKB: B3KQV3 (UniProtKB/TrEMBL),   E7ERY6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000449538   ⟸   ENST00000548264
Ensembl Acc Id: ENSP00000449335   ⟸   ENST00000550360
Ensembl Acc Id: ENSP00000448042   ⟸   ENST00000550095
Ensembl Acc Id: ENSP00000447390   ⟸   ENST00000550465
Ensembl Acc Id: ENSP00000347032   ⟸   ENST00000354947
Ensembl Acc Id: ENSP00000450197   ⟸   ENST00000551772
Ensembl Acc Id: ENSP00000412035   ⟸   ENST00000422156
Ensembl Acc Id: ENSP00000439878   ⟸   ENST00000540759
RefSeq Acc Id: XP_047285507   ⟸   XM_047429551
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047285508   ⟸   XM_047429552
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054229219   ⟸   XM_054373244
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229222   ⟸   XM_054373247
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054229220   ⟸   XM_054373245
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054229221   ⟸   XM_054373246
- Peptide Label: isoform X3
Protein Domains
PIPK

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TBX8-F1-model_v2 AlphaFold Q8TBX8 1-421 view protein structure

Promoters
RGD ID:6790361
Promoter ID:HG_KWN:15987
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:NM_001146258,   NM_001146259,   NM_001146260,   NM_024779
Position:
Human AssemblyChrPosition (strand)Source
Build 361256,271,016 - 56,271,516 (+)MPROMDB
RGD ID:7224575
Promoter ID:EPDNEW_H18032
Type:initiation region
Name:PIP4K2C_1
Description:phosphatidylinositol-5-phosphate 4-kinase type 2 gamma
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
GRCh381257,591,192 - 57,591,252EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23786 AgrOrtholog
COSMIC PIP4K2C COSMIC
Ensembl Genes ENSG00000166908 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354947 ENTREZGENE
  ENST00000354947.10 UniProtKB/Swiss-Prot
  ENST00000422156 ENTREZGENE
  ENST00000422156.7 UniProtKB/Swiss-Prot
  ENST00000540759 ENTREZGENE
  ENST00000540759.6 UniProtKB/Swiss-Prot
  ENST00000548264.1 UniProtKB/TrEMBL
  ENST00000550095.5 UniProtKB/TrEMBL
  ENST00000550360.1 UniProtKB/TrEMBL
  ENST00000550465 ENTREZGENE
  ENST00000550465.5 UniProtKB/Swiss-Prot
  ENST00000551772.5 UniProtKB/TrEMBL
Gene3D-CATH 2-Layer Sandwich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.800.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166908 GTEx
HGNC ID HGNC:23786 ENTREZGENE
Human Proteome Map PIP4K2C Human Proteome Map
InterPro PInositol-4-P-4/5-kinase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PInositol-4-P-5-kinase 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:79837 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79837 ENTREZGENE
OMIM 617104 OMIM
PANTHER PHOSPHATIDYLINOSITOL 5-PHOSPHATE 4-KINASE TYPE-2 GAMMA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23086 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PIP5K UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162399665 PharmGKB
PROSITE PIPK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PIPKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SAICAR synthase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RDL3 ENTREZGENE
  B3KQV3 ENTREZGENE, UniProtKB/TrEMBL
  B3KWP7 ENTREZGENE, UniProtKB/TrEMBL
  B4DM11 ENTREZGENE
  B4DY44 ENTREZGENE
  E7ERY6 ENTREZGENE
  F8VNT5_HUMAN UniProtKB/TrEMBL
  F8VU68_HUMAN UniProtKB/TrEMBL
  F8VVB2_HUMAN UniProtKB/TrEMBL
  H0YIJ6_HUMAN UniProtKB/TrEMBL
  PI42C_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9H6N2 ENTREZGENE
UniProt Secondary B2RDL3 UniProtKB/Swiss-Prot
  B4DM11 UniProtKB/Swiss-Prot
  B4DY44 UniProtKB/Swiss-Prot
  E7ERY6 UniProtKB/TrEMBL
  Q9H6N2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-19 PIP4K2C  phosphatidylinositol-5-phosphate 4-kinase type 2 gamma    phosphatidylinositol-5-phosphate 4-kinase, type II, gamma  Symbol and/or name change 5135510 APPROVED