ANKRD17 Chromosome 4
Ankyrin repeat domain 17
Upload your DNA to see your personal genotypes for variants in ANKRD17.
What This Gene Does
The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
4q13.3
Ensembl
ENSG00000132466
Associated Conditions (8)
Lip and oral cavity carcinoma
Malignant lymphoma
large B-cell
diffuse
ANKRD17-related disorder
Chopra-Amiel-Gordon syndrome
Intellectual disability
Neurodevelopmental delay
Key Variants
RS2306058
association
Lip and oral cavity carcinoma, Malignant lymphoma, large B-cell
Health Risk
RS2530967533
Conflicting classifications of pathogenicity
ANKRD17-related disorder, Chopra-Amiel-Gordon syndrome, ANKRD17-related disorder
Health Risk
RS963581326
Conflicting classifications of pathogenicity
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
RS143161842
Likely pathogenic
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
RS1473793687
Likely pathogenic
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
RS1578168407
Likely pathogenic
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
RS1722731535
Likely pathogenic
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
RS1722830922
Likely pathogenic
Intellectual disability, Chopra-Amiel-Gordon syndrome, Intellectual disability
Health Risk
RS1723542820
Likely pathogenic
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
RS2110165980
Likely pathogenic
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
RS2148684587
Likely pathogenic
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
RS2148684659
Likely pathogenic
Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2306058 | Health Risk | association | Lip and oral cavity carcinoma, Malignant lymphoma, large B-cell |
| RS2530967533 | Health Risk | Conflicting classifications of pathogenicity | ANKRD17-related disorder, Chopra-Amiel-Gordon syndrome, ANKRD17-related disorder |
| RS963581326 | Health Risk | Conflicting classifications of pathogenicity | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS143161842 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS1473793687 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS1578168407 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS1722731535 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS1722830922 | Health Risk | Likely pathogenic | Intellectual disability, Chopra-Amiel-Gordon syndrome, Intellectual disability |
| RS1723542820 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2110165980 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148684587 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148684659 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148701869 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148719433 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2148719956 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148821952 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148823766 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148832538 | Health Risk | Likely pathogenic | — |
| RS2148854716 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2530023546 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2530971773 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2531070828 | Health Risk | Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS1726649573 | Health Risk | Pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS1953365097 | Health Risk | Pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2110167415 | Health Risk | Pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148611909 | Health Risk | Pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148661856 | Health Risk | Pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2148823868 | Health Risk | Pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2530312249 | Health Risk | Pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |
| RS2531070418 | Health Risk | Pathogenic | — |
| RS2531262327 | Health Risk | Pathogenic | — |
| RS2148721126 | Health Risk | Pathogenic/Likely pathogenic | Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome |