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Aliases for PIP4K2C Gene
Aliases for PIP4K2C Gene
External Ids for PIP4K2C Gene
- HGNC: 23786
- NCBI Entrez Gene: 79837
- Ensembl: ENSG00000166908
- OMIM®: 617104
- UniProtKB/Swiss-Prot: Q8TBX8
Previous HGNC Symbols for PIP4K2C Gene
- PIP5K2C
Previous GeneCards Identifiers for PIP4K2C Gene
- GC12P056272
- GC12P057985
- GC12P055022
Summaries for PIP4K2C Gene
GeneCards Summary for PIP4K2C Gene
PIP4K2C (Phosphatidylinositol-5-Phosphate 4-Kinase Type 2 Gamma) is a Protein Coding gene. Diseases associated with PIP4K2C include Parkinson Disease 20, Early-Onset and Macrocephaly/Autism Syndrome. Among its related pathways are RET signaling and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and 1-phosphatidylinositol-5-phosphate 4-kinase activity. An important paralog of this gene is PIP4K2B.
UniProtKB/Swiss-Prot Summary for PIP4K2C Gene
-
Phosphatidylinositol 5-phosphate 4-kinase with low enzymatic activity. May be a GTP sensor, has higher GTP-dependent kinase activity than ATP-dependent kinase activity. PIP4Ks negatively regulate insulin signaling through a catalytic-independent mechanism. They interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439).
Additional gene information for PIP4K2C Gene
- HGNC (23786)
- NCBI Entrez Gene (79837)
- Ensembl (ENSG00000166908)
- OMIM® (617104)
- UniProtKB/Swiss-Prot (Q8TBX8)
- Open Targets Platform(ENSG00000166908)
- Alliance of Genome Resources
- Search for PIP4K2C at DataMed
- Search for PIP4K2C at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIP4K2C Gene
Genomics for PIP4K2C Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PIP4K2C Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PIP4K2C on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIP4K2C
- Top Transcription factor binding sites by QIAGEN in the PIP4K2C gene promoter:
-
- AML1a
- ARP-1
- ATF6
- Egr-3
- IRF-1
- MyoD
- RORalpha1
- Sox5
- Spz1
- ZID
Genomic Locations for PIP4K2C Gene
Latest Assembly
- chr12:57,591,174-57,603,418
- (GRCh38/hg38)
- Size:
- 12,245 bases
- Orientation:
- Plus strand
Previous Assembly
- chr12:57,984,975-57,997,201
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 12,227 bases
- Orientation:
- Plus strand
Genomic View for PIP4K2C Gene
Genes around PIP4K2C on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q13.3 by HGNC
- 12q13.3 by Entrez Gene
- 12q13.3 by Ensembl
PIP4K2C Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PIP4K2C Gene
Proteins for PIP4K2C Gene
-
Protein details for PIP4K2C Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TBX8-PI42C_HUMAN
- Recommended name:
- Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma
- Protein Accession:
- Q8TBX8
- B2RDL3
- B4DM11
- B4DY44
- Q9H6N2
Protein attributes for PIP4K2C Gene
- Size:
- 421 amino acids
- Molecular mass:
- 47300 Da
- Quaternary structure:
-
- Interacts with PIP5K1A; the interaction inhibits PIP5K1A kinase activity.
- SequenceCaution:
-
- Sequence=BAB15223.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for PIP4K2C Gene
Selected DME Specific Peptides for PIP4K2C Gene
- Q8TBX8:
-
- KTKKKHFV
- KELPTLKDMDFLNK
- REASDKEK
- LKIMDYSLLLGIHD
- IMDYSLL
- KRFLDFI
- APQKEVYFMGLIDILT
- PLGPGEF
- VMRNMFSHRL
- TLLPQFLGMYR
- QQKVKVFRA
- VKHGAGAEISTV
- VGSYGTSPEGI
- RENLPSHFKFK
- RKYDLKGS
- FKFKEYCP
- PVMLLPDDFKA
- MDFLNKNQKVYIGE
- FLEKLKRDVEFL
- DYSLLLG
- VHRKYDLKGS
Post-translational modifications for PIP4K2C Gene
- Phosphorylated, phosphorylation is induced by EGF.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for PIP4K2C Gene
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for PIP4K2C
- Novus Biologicals Antibodies for PIP4K2C
-
Abcam antibodies for PIP4K2C
- Invitrogen Antibodies for PIP4K2C (AFLGC-PIP4K2C)
-
Custom Antibody ServicesProSci Antibodies for PIP4K2C
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for PIP4K2C
- Origene Custom Protein Services for PIP4K2C
-
Abcam proteins for PIP4K2C
Assay products for research
Domains & Families for PIP4K2C Gene
Gene Families for PIP4K2C Gene
- IUPHAR :
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for PIP4K2C Gene
- InterPro:
- Blocks:
-
- Phosphatidylinositol-4-phosphate 5-kinase
Suggested Antigen Peptide Sequences for PIP4K2C Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA PSEC0253 fis, clone NT2RP3003368, highly similar to Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type II, gamma (PIP5K2C), mRNA (B3KQV3_HUMAN)
- cDNA FLJ60683, highly similar to Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type II, gamma (PIP5K2C), mRNA (B4DM11_HUMAN)
- cDNA FLJ52923, highly similar to Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type II, gamma (PIP5K2C), mRNA (B4DY44_HUMAN)
- Phosphatidylinositol-5-phosphate 4-kinase type II gamma (PI42C_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PIP4K2C Gene
Function for PIP4K2C Gene
Molecular function for PIP4K2C Gene
- UniProtKB/Swiss-Prot Function:
- Phosphatidylinositol 5-phosphate 4-kinase with low enzymatic activity. May be a GTP sensor, has higher GTP-dependent kinase activity than ATP-dependent kinase activity. PIP4Ks negatively regulate insulin signaling through a catalytic-independent mechanism. They interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:12280, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57795, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=2.7.1.149; Evidence={ECO:0000305|PubMed:26774281};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + ATP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:55992, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:26774281};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + GTP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + GDP + H(+); Xref=Rhea:RHEA:55964, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:58189, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968; Evidence={ECO:0000269|PubMed:26774281};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=31 uM for ATP {ECO:0000269|PubMed:26774281}; KM=389 uM for GTP {ECO:0000269|PubMed:26774281};
Enzyme Numbers (IUBMB) for PIP4K2C Gene
Phenotypes From GWAS Catalog for PIP4K2C Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 31091439 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016301 | kinase activity | IEA | -- |
| GO:0016307 | phosphatidylinositol phosphate kinase activity | IEA | -- |
Phenotypes for PIP4K2C Gene
- MGI mutant phenotypes for PIP4K2C:
-
inferred from 1 alleles
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- behavior/neurological phenotype
- immune system phenotype
- respiratory system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- GenomeRNAi human phenotypes for PIP4K2C:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased shRNA abundance
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased shRNA abundance (Z-score < -2)
- No cells
- Increased shRNA abundance (Z-score > 2)
- Increased viability
- Increased G2M DNA content
- Increased cell size
- Decreased viability
- Increased simian virus 40 (SV40) infection
Animal Models for PIP4K2C Gene
- MGI Knock Outs for PIP4K2C:
-
- Pip4k2c Pip4k2c<tm1b(KOMP)Wtsi>
Animal Models for research
-
Taconic Biosciences Mouse Models for PIP4K2C
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PIP4K2C - Starting at $85 >
- * PIP4K2C CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PIP4K2C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIP4K2C
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIP4K2C
miRNA for PIP4K2C Gene
- miRTarBase miRNAs that target PIP4K2C
-
- mmu-miR-758-3p (MIRT007541)
- mmu-miR-324-3p (MIRT010843)
- mmu-miR-124-3p (MIRT015879)
- hsa-miR-193b-3p (MIRT016341)
- hsa-miR-877-3p (MIRT036860)
- hsa-miR-125b-5p (MIRT045985)
- hsa-miR-101-5p (MIRT066165)
- hsa-miR-142-5p (MIRT066166)
- hsa-miR-374a-3p (MIRT066167)
- hsa-miR-340-5p (MIRT066168)
- hsa-miR-545-3p (MIRT066169)
- hsa-miR-921 (MIRT066171)
- hsa-miR-3174 (MIRT066175)
- hsa-miR-3617-3p (MIRT066177)
- hsa-miR-548at-5p (MIRT066180)
- hsa-miR-5590-5p (MIRT066181)
- hsa-miR-5590-3p (MIRT066182)
- hsa-miR-17-5p (MIRT135705)
- hsa-miR-20a-5p (MIRT135706)
- hsa-miR-93-5p (MIRT135707)
- hsa-miR-106b-5p (MIRT135718)
- hsa-miR-20b-5p (MIRT135724)
- hsa-miR-519d-3p (MIRT135733)
- hsa-miR-6828-5p (MIRT135785)
- hsa-miR-6790-5p (MIRT449851)
- hsa-miR-4658 (MIRT449852)
- hsa-miR-4758-5p (MIRT449853)
- hsa-miR-1238-5p (MIRT449854)
- hsa-miR-526b-5p (MIRT449855)
- hsa-miR-3659 (MIRT449856)
- hsa-miR-574-5p (MIRT449857)
- hsa-miR-20b-3p (MIRT449858)
- hsa-miR-3137 (MIRT449859)
- hsa-miR-361-5p (MIRT555601)
- hsa-miR-561-3p (MIRT555602)
- hsa-miR-1185-5p (MIRT735913)
- hsa-miR-3190-3p (MIRT740962)
- hsa-miR-3679-5p (MIRT742184)
- hsa-miR-451b (MIRT745807)
- hsa-miR-4525 (MIRT745919)
- hsa-miR-4534 (MIRT746056)
- hsa-miR-4668-5p (MIRT746829)
- hsa-miR-4716-3p (MIRT747496)
- hsa-miR-4796-3p (MIRT748972)
- hsa-miR-4802-5p (MIRT749016)
- hsa-miR-5010-5p (MIRT749501)
- hsa-miR-548az-5p (MIRT750651)
- hsa-miR-548t-5p (MIRT750800)
- hsa-miR-6079 (MIRT751742)
- hsa-miR-671-5p (MIRT753709)
- hsa-miR-6794-5p (MIRT756096)
- hsa-miR-6894-5p (MIRT758784)
- hsa-miR-7109-3p (MIRT758933)
- hsa-miR-7154-3p (MIRT759234)
- hsa-miR-765 (MIRT759580)
- hsa-miR-766-5p (MIRT759651)
- hsa-miR-8082 (MIRT760174)
- hsa-miR-1324 (MIRT762548)
- hsa-miR-188-3p (MIRT763219)
- hsa-miR-3120-3p (MIRT764779)
- hsa-miR-5000-5p (MIRT772900)
- hsa-miR-6729-3p (MIRT777943)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIP4K2C
- Browse OriGene Inhibitory RNA Products For PIP4K2C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP4K2C
Clone products for research
- Applied Biological Materials (abm): Clones for PIP4K2C - Starting at $45 >
- * PIP4K2C as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206691
- MR206691
- MR206691L3
- MR206691L4
- RC205976
- RC205976L1
- RC205976L2
- RC205976L3
- RC205976L4
- RC228300
- RC228300L3
- RC228300L4
- RC228323
- RC228323L3
- RC228323L4
- RC228337
- RC228337L3
- RC228337L4
- RG205976
- RG228300
- RG228323
- RG228337
- RR210888
- RR210888L3
- RR210888L4
- MR206691L3V
- MR206691L4V
- RC205976L1V
- RC205976L2V
- RC205976L3V
- RC205976L4V
- RC228300L3V
- RC228300L4V
- RC228323L3V
- RC228323L4V
- RC228337L3V
- RC228337L4V
- RR210888L3V
- RR210888L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PIP4K2C
- Addgene plasmids for PIP4K2C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIP4K2C
Cell Lines for research
-
Horizon Cell Lines for PIP4K2C
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIP4K2C Gene
Localization for PIP4K2C Gene
Subcellular locations from UniProtKB/Swiss-Prot for PIP4K2C Gene
- Endoplasmic reticulum. Cytoplasm.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| cytosol | 4 |
| endoplasmic reticulum | 3 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| mitochondrion | 0 |
| peroxisome | 0 |
- Cytosol (3)
- Plasma membrane (2)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005776 | autophagosome | IMP | 25578879 |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for PIP4K2C Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
|
| 2 | PI3K/AKT activation |
.89
|
|
| 3 | superpathway of inositol phosphate compounds | ||
| 4 | Metabolism |
.40
|
|
| 5 | Regulation of TP53 Activity through Acetylation | ||
Pathways by source for PIP4K2C Gene
4 BioSystems pathways for PIP4K2C Gene
33 Reactome pathways for PIP4K2C Gene
4 KEGG pathways for PIP4K2C Gene
7 Qiagen pathways for PIP4K2C Gene
- Actin-Based Motility by Rho Family GTPases
- Aldosterone Signaling in Epithelial Cells
- Fc-GammaR-Mediated Phagocytosis in Macrophages
- Integrin Pathway
- Rac1 Pathway
Interacting Proteins for PIP4K2C Gene
Selected Interacting proteins:
Q8TBX8-PI42C_HUMAN
ENSP00000347032
for PIP4K2C Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PIP4K2C
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006661 | phosphatidylinositol biosynthetic process | TAS | -- |
| GO:0010506 | regulation of autophagy | IMP | 25578879 |
| GO:0014066 | regulation of phosphatidylinositol 3-kinase signaling | TAS | -- |
| GO:0016310 | phosphorylation | IEA | -- |
| GO:0046488 | phosphatidylinositol metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for PIP4K2C Gene
Drugs & Compounds for PIP4K2C Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
58-64-0 |
|
Transcripts for PIP4K2C Gene
mRNA/cDNA for PIP4K2C Gene
- 4 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000354947 3176 nts (view in UCSC)
- ENST00000422156 1558 nts (view in UCSC)
- ENST00000540759 2876 nts (view in UCSC)
- ENST00000548264 403 nts (view in UCSC)
- ENST00000550095 941 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PIP4K2C - Starting at $85 >
- * PIP4K2C CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PIP4K2C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIP4K2C
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIP4K2C
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PIP4K2C
- Browse OriGene Inhibitory RNA Products For PIP4K2C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP4K2C
Clone products for research
- Applied Biological Materials (abm): Clones for PIP4K2C - Starting at $45 >
- * PIP4K2C as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206691
- MR206691
- MR206691L3
- MR206691L4
- RC205976
- RC205976L1
- RC205976L2
- RC205976L3
- RC205976L4
- RC228300
- RC228300L3
- RC228300L4
- RC228323
- RC228323L3
- RC228323L4
- RC228337
- RC228337L3
- RC228337L4
- RG205976
- RG228300
- RG228323
- RG228337
- RR210888
- RR210888L3
- RR210888L4
- MR206691L3V
- MR206691L4V
- RC205976L1V
- RC205976L2V
- RC205976L3V
- RC205976L4V
- RC228300L3V
- RC228300L4V
- RC228323L3V
- RC228323L4V
- RC228337L3V
- RC228337L4V
- RR210888L3V
- RR210888L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for PIP4K2C
- Addgene plasmids for PIP4K2C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIP4K2C
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||
| SP6: | - | - |
Relevant External Links for PIP4K2C Gene
- GeneLoc Exon Structure for
- PIP4K2C
Expression for PIP4K2C Gene
This gene is overexpressed in Cervix (10.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIP4K2C Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIP4K2C
SOURCE GeneReport for Unigene cluster for PIP4K2C Gene:
Hs.745011Evidence on tissue expression from TISSUES for PIP4K2C Gene
- Nervous system(3.3)
Primer products for research
-
OriGene qPCR primer pairs for PIP4K2C
-
OriGene qPCR primer pairs and template standards for PIP4K2C
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIP4K2C Gene
Orthologs for PIP4K2C Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PIP4K2C 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PIP4K2C 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PIP4K2C 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PIP4K2C 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pip4k2c 29 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pip4k2c 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PIP4K2C 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PIP4K2C 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pip4k2c 29 |
|
||
| Str.3445 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | pip5k2 29 30 |
|
OneToMany | |
| LOC100535634 29 |
|
||||
| PIP4K2C (2 of 2) 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG17471 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | ppk-2 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7002 30 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10982 29 |
|
- Species where no ortholog for PIP4K2C was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for PIP4K2C Gene
- ENSEMBL:
- Gene Tree for PIP4K2C (if available)
- TreeFam:
- Gene Tree for PIP4K2C (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PIP4K2C: view image
- Alliance of Genome Resources:
- Additional Orthologs for PIP4K2C
Paralogs for PIP4K2C Gene
(7) SIMAP similar genes for PIP4K2C Gene using alignment to 5 proteins:
- PI42C_HUMAN
- F8VNT5_HUMAN
- F8VU68_HUMAN
- F8VVB2_HUMAN
- H0YIJ6_HUMAN
Variants for PIP4K2C Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIP4K2C Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs17550713 | -- |
p.Val84Ala |
|||
| rs17852569 | -- |
p.Lys241Arg |
|||
| rs2277319 | -- |
p.Ala300Gly |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.76;
57.90% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PIP4K2C Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIP4K2C Gene
Disorders for PIP4K2C Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| parkinson disease 20, early-onset |
|
|
| macrocephaly/autism syndrome |
|
|
| joubert syndrome 1 |
|
|
Search PIP4K2C in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PIP4K2C
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PIP4K2C Gene
Publications for PIP4K2C Gene
- PIP4Ks Suppress Insulin Signaling through a Catalytic-Independent Mechanism. (PMID: 31091439) Wang DG … Cantley LC (Cell reports 2019) 3 4
- The Lipid Kinase PI5P4Kβ Is an Intracellular GTP Sensor for Metabolism and Tumorigenesis. (PMID: 26774281) Sumita K … Sasaki AT (Molecular cell 2016) 3 4
- Genetic variants in the prediction of rheumatoid arthritis. (PMID: 20439292) van der Helm-van Mil AH … Huizinga TW (Annals of the rheumatic diseases 2010) 3 40
- Association of a single-nucleotide polymorphism in CD40 with the rate of joint destruction in rheumatoid arthritis. (PMID: 19644859) van der Linden MP … van der Helm-Van Mil AH (Arthritis and rheumatism 2009) 3 40
- Common variants at CD40 and other loci confer risk of rheumatoid arthritis. (PMID: 18794853) Raychaudhuri S … Plenge RM (Nature genetics 2008) 3 40
ExternalLinks
Products for PIP4K2C Gene
- Custom Antibody ServicesOriGene Antibodies for PIP4K2C
- Browse OriGene ELISA Kits
- Custom Assay Services
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- OriGene qPCR primer pairs for PIP4K2C
- OriGene qPCR primer pairs and template standards for PIP4K2C
- OriGene CRISPR knockouts for PIP4K2C
- MG206691
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- RR210888
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- RC205976L1V
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- RC228300L3V
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- RC228323L3V
- RC228323L4V
- RC228337L3V
- RC228337L4V
- RR210888L3V
- RR210888L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For PIP4K2C
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for PIP4K2C
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- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for PIP4K2C
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for PIP4K2C (AFLGC-PIP4K2C)
- VectorBuilder Custom and pre-made DNA vectors for PIP4K2C (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PIP4K2C (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PIP4K2C (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PIP4K2C CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PIP4K2C
- Addgene plasmids for PIP4K2C
- antibodies-online: Show 11 available PIP4K2C Antibodies ranked by validation data
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- antibodies-online: Show 10 available PIP4K2C Elisa Kits ranked by validation data
- Compare Top PIP4K2C Elisa Kits
- Quality Products:
- antibodies-online: Show 12 available PIP4K2C Proteins ranked by validation data
- Compare Top PIP4K2C Proteins
- Custom Antibody ServicesProSci Antibodies for PIP4K2C
- Search for PIP4K2C Proteins at ProSci
- Horizon Cell Lines for PIP4K2C
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PIP4K2C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PIP4K2C
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PIP4K2C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIP4K2C
Sources for PIP4K2C Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources