ILK Chromosome 11
Integrin linked kinase
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What This Gene Does
This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Gene Info
Gene Group
"Ankyrin repeat domain containing|Mixed lineage kinase family"
Locus Type
gene with protein product
Location
11p15.4
Ensembl
ENSG00000166333
Associated Conditions (3)
Primary familial hypertrophic cardiomyopathy
ILK-related disorder
Cardiovascular phenotype
Key Variants
RS1253622274
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
RS140322345
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, ILK-related disorder, Primary familial hypertrophic cardiomyopathy
Health Risk
RS145571020
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
RS147368550
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
RS199790448
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
RS200288502
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
RS200336608
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
RS548542841
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
RS747974626
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
Health Risk
RS867451051
Conflicting classifications of pathogenicity
Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1253622274 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS140322345 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, ILK-related disorder, Primary familial hypertrophic cardiomyopathy |
| RS145571020 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS147368550 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS199790448 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS200288502 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS200336608 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS548542841 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |
| RS747974626 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype |
| RS867451051 | Health Risk | Conflicting classifications of pathogenicity | Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy |