Identity
HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
IP3-3KC,IP3KC
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80271
MIM: 606476
HGNC: 14897
Ensembl: ENSG00000086544
Variants:
dbSNP: 80271
ClinVar: 80271
TCGA: ENSG00000086544
COSMIC: ITPKC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000086544 | ENST00000263370 | Q96DU7 |
| ENSG00000086544 | ENST00000263370 | A0A024R0N8 |
| ENSG00000086544 | ENST00000597003 | M0R2L7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164712817 | Immunoglobulins | Chemical | VariantAnnotation | associated | PD | 21987091 | |
| PA444977 | Mucocutaneous Lymph Node Syndrome | Disease | VariantAnnotation | associated | PD | 21987091 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35353363 | 2023 | Inositol-Triphosphate 3-Kinase C and DNA Methylation Involvement in NLRP3 Inflammasome Activation in Kawasaki Disease. | 3 |
| 37404818 | 2023 | ITPKC polymorphism (rs7251246 T > C), coronary artery aneurysms, and thrombosis in patients with Kawasaki disease in a Southern Han Chinese population. | 1 |
| 35353363 | 2023 | Inositol-Triphosphate 3-Kinase C and DNA Methylation Involvement in NLRP3 Inflammasome Activation in Kawasaki Disease. | 3 |
| 37404818 | 2023 | ITPKC polymorphism (rs7251246 T > C), coronary artery aneurysms, and thrombosis in patients with Kawasaki disease in a Southern Han Chinese population. | 1 |
| 34952936 | 2022 | Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease. | 2 |
| 34952936 | 2022 | Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease. | 2 |
| 33470690 | 2021 | Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer. | 2 |
| 33470690 | 2021 | Immune-related genes STIM1, ITPKC and PELI1 polymorphisms are associated with risk of colorectal cancer. | 2 |
| 29214786 | 2018 | ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease. | 6 |
| 30355649 | 2018 | Integrative genomic analysis for the functional roles of ITPKC in bone mineral density. | 0 |
| 29214786 | 2018 | ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease. | 6 |
| 30355649 | 2018 | Integrative genomic analysis for the functional roles of ITPKC in bone mineral density. | 0 |
| 28664405 | 2017 | Potential association between ITPKC genetic variations and Hirschsprung disease. | 2 |
| 28664405 | 2017 | Potential association between ITPKC genetic variations and Hirschsprung disease. | 2 |
| 27694492 | 2016 | Inositol-Triphosphate 3-Kinase C Mediates Inflammasome Activation and Treatment Response in Kawasaki Disease. | 57 |
Citation
Dessen P
ITPKC (inositol-trisphosphate 3-kinase C)
Atlas Genet Cytogenet Oncol Haematol. 2013-02-01
Online version: http://atlasgeneticsoncology.org/gene/53178/itpkc
