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Aliases for PIP4K2C Gene
Aliases for PIP4K2C Gene
External Ids for PIP4K2C Gene
- HGNC: 23786
- Entrez Gene: 79837
- Ensembl: ENSG00000166908
- OMIM: 617104
- UniProtKB: 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 Epileptic Encephalopathy, Early Infantile, 53. Among its related pathways are Regulation of TP53 Activity through Acetylation and RET signaling. 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
-
May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum.
Additional gene information for PIP4K2C Gene
- HGNC(23786)
- Entrez Gene(79837)
- Ensembl(ENSG00000166908)
- OMIM(617104)
- UniProtKB(Q8TBX8)
- Open Targets Platform(ENSG00000166908)
- 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
Genomic Locations for PIP4K2C Gene
- chr12:57,591,174-57,603,418
- (GRCh38/hg38)
- Size:
- 12,245 bases
- Orientation:
- Plus strand
- chr12:57,984,942-57,997,211
- (GRCh37/hg19)
- Size:
- 12,270 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:
- No Data Available
- 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
Other Protein References for PIP4K2C Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for PIP4K2C
- Novus Biologicals Antibodies for PIP4K2C
-
Abcam antibodies for PIP4K2C
- Invitrogen Antibodies for PIP4K2C (AFLGC-PIP4K2C)
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for PIP4K2C
- Origene Custom Protein Services for PIP4K2C
-
Signalway Proteins for PIP4K2C
-
Abcam proteins for PIP4K2C
Assay Products
-
Signalway ELISA kits for PIP4K2C
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
- ProtoNet:
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:
- May play an important role in the production of Phosphatidylinositol bisphosphate (PIP2), in the endoplasmic reticulum.
- 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;.
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:0005524 | ATP binding | IEA | -- |
| GO:0016301 | kinase activity | IEA | -- |
| GO:0016307 | phosphatidylinositol phosphate kinase activity | IEA | -- |
| GO:0016309 | 1-phosphatidylinositol-5-phosphate 4-kinase activity | IEA | -- |
Phenotypes for PIP4K2C Gene
- MGI mutant phenotypes for PIP4K2C:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PIP4K2C:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased cell size
- Decreased shRNA abundance
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Increased G2M DNA content
- No cells
- Increased simian virus 40 (SV40) infection
- Increased viability
Animal Models for PIP4K2C Gene
- MGI Knock Outs for PIP4K2C:
-
- Pip4k2c Pip4k2c<tm1b(KOMP)Wtsi>
Animal Model Products
-
Taconic Biosciences Mouse Models for PIP4K2C
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PIP4K2C - Select products 50% OFF >
- * PIP4K2C CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
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
Inhibitory RNA Products
- 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
- Applied Biological Materials (abm): Clones for PIP4K2C - Select products 50% OFF >
- * PIP4K2C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- 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 Line Products
-
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
- Cytoplasm. Membrane. Note=Mostly found in the cytosol and surrounding plasma membrane. However, its presence in the endoplasmic reticulum seems to be a prerequisite for PIP2 synthesis (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| cytosol | 4 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| mitochondrion | 0 |
| peroxisome | 0 |
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005776 | autophagosome | IMP | 25578879 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0070062 | extracellular exosome | HDA | 18570454 |
Pathways & Interactions for PIP4K2C Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
|
| 2 | GAB1 signalosome |
.89
|
|
| 3 | Inositol phosphate metabolism (KEGG) | ||
| 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 | |
|---|---|---|---|---|---|---|
| 1-Phosphatidyl-D-myo-inositol |
|
|
||||
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 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
- Applied Biological Materials (abm): CRISPR Clones for PIP4K2C - Select products 50% OFF >
- * PIP4K2C CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
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
Inhibitory RNA Products
- 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
- Applied Biological Materials (abm): Clones for PIP4K2C - Select products 50% OFF >
- * PIP4K2C as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- 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(3.4)
Primer Products
-
OriGene qPCR primer pairs for PIP4K2C
-
OriGene qPCR primer pairs and template standards for PIP4K2C
Gene Expression Assay Products
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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PIP4K2C 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PIP4K2C 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PIP4K2C 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Pip4k2c 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Pip4k2c 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PIP4K2C 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PIP4K2C 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pip4k2c 30 |
|
||
| Str.3445 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | pip5k2 30 31 |
|
OneToMany | |
| LOC100535634 30 |
|
||||
| PIP4K2C (2 of 2) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG17471 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | ppk-2 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7002 31 |
|
OneToMany | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10982 30 |
|
- 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
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 |
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
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PIP4K2C
SNP Genotyping and Copy Number Assay Products
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 |
|
|
| epileptic encephalopathy, early infantile, 53 |
|
|
| macrocephaly/autism syndrome |
|
|
| joubert syndrome 1 |
|
|
Search PIP4K2C in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PIP4K2C
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for PIP4K2C Gene
Publications for PIP4K2C Gene
- 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 41
- 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 41
- Common variants at CD40 and other loci confer risk of rheumatoid arthritis. (PMID: 18794853) Raychaudhuri S … Plenge RM (Nature genetics 2008) 3 41
- A new pathway for synthesis of phosphatidylinositol-4,5-bisphosphate. (PMID: 9367159) Rameh LE … Cantley LC (Nature 1997) 2 3
- PIP4K2A and PIP4K2C transcript levels are associated with cytogenetic risk and survival outcomes in acute myeloid leukemia. (PMID: 31109595) Lima K … Machado-Neto JA (Cancer genetics 2019) 3
ExternalLinks
Products for PIP4K2C Gene
- Custom Antibody ServicesOriGene Antibodies for PIP4K2C
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- MG206691
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- RC228323L3V
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- RC228337L3V
- RC228337L4V
- RR210888L3V
- RR210888L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- High-throughput Antibody Production Service
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- 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)
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- 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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- Quality Products:
- antibodies-online: Show 12 available PIP4K2C Proteins ranked by validation data
- Compare Top PIP4K2C Proteins
- 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
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
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- (89) antibodies-online
- (90) CYP
- (91) NONCODE
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- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
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- (104) diseasecard
- (105) NIH Rare Diseases
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- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
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- (115) NCBI Bookshelf
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- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
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- (159) GeneImprint
- (160) Synthego
- (161) ENA
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- (163) LncBase
- (164) LncBook
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- (170) snOPY
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- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB