CILK1 Chromosome 6
Ciliogenesis associated kinase 1
Upload your DNA to see your personal genotypes for variants in CILK1.
What This Gene Does
Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
CILK1, MAK, MOK protein kinase family
Locus Type
gene with protein product
Location
6p12.1
Ensembl
ENSG00000112144
Associated Conditions (8)
CILK1-related disorder
Epilepsy
juvenile myoclonic
susceptibility to
10
Short rib-polydactyly syndrome
Endocrine-cerebro-osteodysplasia syndrome
Papillary renal cell carcinoma type 1
Key Variants
RS137933227
Conflicting classifications of pathogenicity
Health Risk
RS145842629
Conflicting classifications of pathogenicity
CILK1-related disorder, CILK1-related disorder
Health Risk
RS149734466
Conflicting classifications of pathogenicity
Health Risk
RS368157719
Conflicting classifications of pathogenicity
Health Risk
RS56164633
Conflicting classifications of pathogenicity
Health Risk
RS563467548
Conflicting classifications of pathogenicity
Epilepsy, juvenile myoclonic, susceptibility to
Health Risk
RS766465153
Conflicting classifications of pathogenicity
Health Risk
RS868057037
Conflicting classifications of pathogenicity
Health Risk
RS772883200
Likely pathogenic
Epilepsy, juvenile myoclonic, susceptibility to
Health Risk
RS868310475
Likely pathogenic
Short rib-polydactyly syndrome, Short rib-polydactyly syndrome
Health Risk
RS1157785470
Pathogenic
Endocrine-cerebro-osteodysplasia syndrome, Papillary renal cell carcinoma type 1, Endocrine-cerebro-osteodysplasia syndrome
Health Risk
RS118203918
Pathogenic
Endocrine-cerebro-osteodysplasia syndrome, Endocrine-cerebro-osteodysplasia syndrome
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137933227 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145842629 | Health Risk | Conflicting classifications of pathogenicity | CILK1-related disorder, CILK1-related disorder |
| RS149734466 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368157719 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS56164633 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS563467548 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, juvenile myoclonic, susceptibility to |
| RS766465153 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS868057037 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772883200 | Health Risk | Likely pathogenic | Epilepsy, juvenile myoclonic, susceptibility to |
| RS868310475 | Health Risk | Likely pathogenic | Short rib-polydactyly syndrome, Short rib-polydactyly syndrome |
| RS1157785470 | Health Risk | Pathogenic | Endocrine-cerebro-osteodysplasia syndrome, Papillary renal cell carcinoma type 1, Endocrine-cerebro-osteodysplasia syndrome |
| RS118203918 | Health Risk | Pathogenic | Endocrine-cerebro-osteodysplasia syndrome, Endocrine-cerebro-osteodysplasia syndrome |
| RS1554169267 | Health Risk | risk factor | Epilepsy, juvenile myoclonic, susceptibility to |