AURKC Chromosome 19
Aurora kinase C
Upload your DNA to see your personal genotypes for variants in AURKC.
What This Gene Does
This gene encodes a member of the Aurora subfamily of serine/threonine protein kinases. The encoded protein is a chromosomal passenger protein that forms complexes with Aurora-B and inner centromere proteins and may play a role in organizing microtubules in relation to centrosome/spindle function during mitosis. This gene is overexpressed in several cancer cell lines, suggesting an involvement in oncogenic signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aurora kinase family
Locus Type
gene with protein product
Location
19q13.43
Ensembl
ENSG00000105146
Associated Conditions (2)
Infertility associated with multi-tailed spermatozoa and excessive DNA
Male infertility with spermatogenesis disorder
Key Variants
RS749123022
Conflicting classifications of pathogenicity
Health Risk
RS1568483365
Likely pathogenic
Health Risk
RS121908654
Pathogenic
Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA
Health Risk
RS397515484
Pathogenic
Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA
Health Risk
RS55658999
Pathogenic
Infertility associated with multi-tailed spermatozoa and excessive DNA, Male infertility with spermatogenesis disorder, Infertility associated with multi-tailed spermatozoa and excessive DNA
Health Risk
RS397515619
Pathogenic/Likely pathogenic
Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS749123022 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1568483365 | Health Risk | Likely pathogenic | — |
| RS121908654 | Health Risk | Pathogenic | Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA |
| RS397515484 | Health Risk | Pathogenic | Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA |
| RS55658999 | Health Risk | Pathogenic | Infertility associated with multi-tailed spermatozoa and excessive DNA, Male infertility with spermatogenesis disorder, Infertility associated with multi-tailed spermatozoa and excessive DNA |
| RS397515619 | Health Risk | Pathogenic/Likely pathogenic | Infertility associated with multi-tailed spermatozoa and excessive DNA, Infertility associated with multi-tailed spermatozoa and excessive DNA |