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
Description: Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and identical protein binding 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. Located in several cellular components, including autophagosome; cytosol; and nucleoplasm; PARTICIPATES IN inositol phosphate metabolic pathway; phosphatidylinositol 3-kinase signaling pathway; INTERACTS WITH aflatoxin B1; aristolochic acid; arsenous acid.
Type: protein-coding
RefSeq Status: VALIDATED
Also 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 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 Ensembl1257,591,174 - 57,603,418 (+)EnsemblGRCh38hg38GRCh38
GRCh381257,591,188 - 57,603,418 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,984,975 - 57,997,201 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,271,324 - 56,283,298 (+)NCBINCBI36hg18NCBI36
Build 341256,271,323 - 56,283,296NCBI
Celera1257,640,774 - 57,653,027 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1255,022,647 - 55,034,898 (+)NCBIHuRef
CHM1_11257,952,773 - 57,965,027 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8125298   PMID:9367159   PMID:12477932   PMID:14614850   PMID:15046600   PMID:18029348   PMID:18255255   PMID:18570454   PMID:18794853   PMID:19056867   PMID:19322201   PMID:19644859  
PMID:20439292   PMID:21461837   PMID:21832049   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:30718367   PMID:31076518   PMID:31091439   PMID:31109595   PMID:31239290   PMID:31753913   PMID:31822558   PMID:31973889   PMID:32374916  
PMID:32994395   PMID:33187986  


Genomics

Comparative Map Data
PIP4K2C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1257,591,174 - 57,603,418 (+)EnsemblGRCh38hg38GRCh38
GRCh381257,591,188 - 57,603,418 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371257,984,975 - 57,997,201 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361256,271,324 - 56,283,298 (+)NCBINCBI36hg18NCBI36
Build 341256,271,323 - 56,283,296NCBI
Celera1257,640,774 - 57,653,027 (+)NCBI
Cytogenetic Map12q13.3NCBI
HuRef1255,022,647 - 55,034,898 (+)NCBIHuRef
CHM1_11257,952,773 - 57,965,027 (+)NCBICHM1_1
Pip4k2c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910127,032,936 - 127,047,508 (-)NCBIGRCm39mm39
GRCm39 Ensembl10127,032,936 - 127,047,454 (-)Ensembl
GRCm3810127,197,067 - 127,211,628 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10127,197,067 - 127,211,585 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710126,634,123 - 126,648,678 (-)NCBIGRCm37mm9NCBIm37
MGSCv3610126,600,016 - 126,614,495 (-)NCBImm8
Celera10129,590,131 - 129,604,615 (-)NCBICelera
Cytogenetic Map10D3NCBI
Pip4k2c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2763,020,004 - 63,035,086 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl763,020,000 - 63,035,078 (-)Ensembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11231,582,725 - 31,594,808 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1231,584,534 - 31,594,808 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01231,323,346 - 31,335,626 (-)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.0101,678,750 - 1,690,303 (+)NCBI
UMICH_Zoey_3.1101,656,535 - 1,668,086 (+)NCBI
UNSW_CanFamBas_1.0101,898,309 - 1,909,854 (+)NCBI
UU_Cfam_GSD_1.0102,023,523 - 2,035,070 (+)NCBI
Pip4k2c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494557,122,179 - 57,133,168 (-)NCBI
SpeTri2.0NW_0049366461,737,088 - 1,748,056 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PIP4K2C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl522,854,137 - 22,867,037 (+)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 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1153,499,432 - 53,509,799 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037192,450,528 - 192,462,783 (-)NCBIVero_WHO_p1.0
Pip4k2c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462480210,359,891 - 10,370,931 (-)NCBIHetGla_female_1.0hetGla2

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.


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 1
Medium 2426 2146 1480 401 1600 243 3841 1354 3197 409 1455 1608 173 1 1138 2289 6 2
Low 13 845 246 223 347 222 516 843 537 10 5 4 2 66 499
Below cutoff 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
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
  KF459552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354947   ⟹   ENSP00000347032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,591,192 - 57,603,418 (+)Ensembl
RefSeq Acc Id: ENST00000422156   ⟹   ENSP00000412035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,591,174 - 57,601,926 (+)Ensembl
RefSeq Acc Id: ENST00000540759   ⟹   ENSP00000439878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,591,203 - 57,603,418 (+)Ensembl
RefSeq Acc Id: ENST00000548264   ⟹   ENSP00000449538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,599,090 - 57,600,977 (+)Ensembl
RefSeq Acc Id: ENST00000550095   ⟹   ENSP00000448042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,591,266 - 57,600,436 (+)Ensembl
RefSeq Acc Id: ENST00000550360   ⟹   ENSP00000449335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,591,246 - 57,599,144 (+)Ensembl
RefSeq Acc Id: ENST00000550465   ⟹   ENSP00000447390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1257,591,243 - 57,601,879 (+)Ensembl
RefSeq Acc Id: ENST00000551772   ⟹   ENSP00000450197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
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
Sequence:
RefSeq Acc Id: XM_005269152   ⟹   XP_005269209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,188 - 57,603,418 (+)NCBI
GRCh371257,984,942 - 57,997,211 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538747   ⟹   XP_011537049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,188 - 57,599,817 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019973   ⟹   XP_016875462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381257,591,215 - 57,603,418 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_079055   ⟸   NM_024779
- Peptide Label: isoform a
- UniProtKB: Q8TBX8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139730   ⟸   NM_001146258
- Peptide Label: isoform a
- UniProtKB: Q8TBX8 (UniProtKB/Swiss-Prot),   B3KQV3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139731   ⟸   NM_001146259
- Peptide Label: isoform b
- UniProtKB: Q8TBX8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001139732   ⟸   NM_001146260
- Peptide Label: isoform c
- UniProtKB: Q8TBX8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005269209   ⟸   XM_005269152
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537049   ⟸   XM_011538747
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016875462   ⟸   XM_017019973
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000449538   ⟸   ENST00000548264
RefSeq Acc Id: ENSP00000449335   ⟸   ENST00000550360
RefSeq Acc Id: ENSP00000448042   ⟸   ENST00000550095
RefSeq Acc Id: ENSP00000447390   ⟸   ENST00000550465
RefSeq Acc Id: ENSP00000347032   ⟸   ENST00000354947
RefSeq Acc Id: ENSP00000450197   ⟸   ENST00000551772
RefSeq Acc Id: ENSP00000412035   ⟸   ENST00000422156
RefSeq Acc Id: ENSP00000439878   ⟸   ENST00000540759
Protein Domains
PIPK

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

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

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 Protein ENSP00000347032 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000412035 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439878 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000447390 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000448042 UniProtKB/TrEMBL
  ENSP00000449335 UniProtKB/TrEMBL
  ENSP00000449538 UniProtKB/TrEMBL
  ENSP00000450197 UniProtKB/TrEMBL
Ensembl Transcript ENST00000354947 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000422156 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000540759 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000548264 UniProtKB/TrEMBL
  ENST00000550095 UniProtKB/TrEMBL
  ENST00000550360 UniProtKB/TrEMBL
  ENST00000550465 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000551772 UniProtKB/TrEMBL
Gene3D-CATH 3.30.800.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.810.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166908 GTEx
HGNC ID HGNC:23786 ENTREZGENE
Human Proteome Map PIP4K2C Human Proteome Map
InterPro PInositol-4-P-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:79837 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79837 ENTREZGENE
OMIM 617104 OMIM
PANTHER 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
UniProt B3KQV3 ENTREZGENE, UniProtKB/TrEMBL
  F8VNT5_HUMAN UniProtKB/TrEMBL
  F8VU68_HUMAN UniProtKB/TrEMBL
  F8VVB2_HUMAN UniProtKB/TrEMBL
  H0YIJ6_HUMAN UniProtKB/TrEMBL
  PI42C_HUMAN UniProtKB/Swiss-Prot, 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