1. Gene
  2. ITPKC - inositol-trisphosphate 3-kinase C Gene

ITPKC - inositol-trisphosphate 3-kinase C Gene

Homo sapiens

Also known as IP3KC; IP3-3KC

Gene ID: 80271 | Gene type: protein coding

About ITPKC

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,717,112-40,740,860 (from NCBI)

This gene has 5 transcripts (splice variants), 240 orthologues and 6 paralogues. Ubiquitous expression in esophagus (RPKM 36.2), gall bladder (RPKM 17.5) and 24 other tissues.

Summary

This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]

ITPKC Products(2)

mRNA Protein Name
NM_001411098.1 NP_001398027.1 inositol-trisphosphate 3-kinase C isoform 2
NM_025194.3 NP_079470.1 inositol-trisphosphate 3-kinase C isoform 1

ITPKC Protein Structure

IPK

IPK: Inositol polyphosphate kinase (468 - 677)

  • 0
  • 200
  • 400
  • 600
  • 683 a.a.
Protein Preferred Names Protein Names

inositol-trisphosphate 3-kinase C

IP3 3-kinase C

Related Diseases

Diseases Alias
Kawasaki Disease

Mucocutaneous Lymph Node Syndrome

Acute Febrile Mucocutaneous Lymph Node Syndrome

Kawasaki Syndrome

Kd

Infantile Polyarteritis

Kawasaki Disease, Susceptibility To

Acute Febrile Mcls

Kawasaki'S Disease

Mlns

KWD

Bacterial Conjunctivitis

Purulent Conjunctivitis

Conjunctivitis, Bacterial

Heart Aneurysm

Cardiac Aneurysm

Coronary Aneurysm

Aneurysm Of Coronary Vessels

Aneurysmal Lesion Of Coronary Artery

Arteriovenous Aneurysm Of Coronary Vessels

Hydrops Of Gallbladder

Gallbladder Hydrops

Lymph Node Disease

Abnormality Of The Lymph Nodes

Disorder Of Lymph Node

Scarlet Fever

Scarlatina

Scarlatina Nos

Lymphadenitis

Acute Lymphadenitis

Chronic Lymphadenitis

Adenitis

Chronic Adenitis

Acute Adenitis

Inflammation Of Lymph Node

Adenitis Nos

Inflammation Of Gland

Lymphatic Gland Inflammation

Lymph Gland Inflammation

Polyadenitis

Chronic Adenitis Of Any Lymph Node Except Mesenteric

Chronic Lymphadenitis Except Mesenteric

Chronic Non-Specific Lymphadenitis

Cervical Adenitis

Cervical Lymphadenitis

Pyuria

Pus Cells In Urine

Reye Syndrome

Reye'S Syndrome

Rasmussen Encephalitis

Fatty Liver With Encephalopathy

Rasmussen'S Encephalitis

Re

Rs

Rasmussen Syndrome

Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome

Reye Encephalopathy

Lipoprotein Quantitative Trait Locus

Coronary Artery Disease

Coronary Artery Anomaly

Coronary Artery Disease, Susceptibility To

Myocardial Ischemia

Congenital Anomaly Of Coronary Artery

Coronary Arteriosclerosis

Coronary Disease

Coronary Heart Disease

Coronary Artery Disorder

LPAQTL

Lpa Deficiency, Congenital

Coronary Artery Abnormality

Coronary Artery Anomaly, Congenital

Chd

Coronary Syndrome

Congenital Malformations Of Coronary Vessels

Malformation Of Coronary Vessels

Congenital Coronary Artery Anomaly

Congenital Coronary Artery Deformity

Congenital Coronary Artery Disorder

Abnormal Coronary Artery

Congenital Coronary Artery Malposition

Congenital Coronary Disease

Congenital Anomaly Of Coronary Arteries

Autoimmune Vasculitis
Conjunctival Disease

Conjunctival Diseases

Conjunctival Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus ITPKC MGD MGI:2442554
Canis familiaris ITPKC VGNC VGNC:42156
Felis catus ITPKC VGNC VGNC:62986
Macaca mulatta ITPKC VGNC VGNC:73599
Rattus norvegicus ITPKC RGD RGD:631336
Bos taurus ITPKC VGNC VGNC:30345