ANK3 Chromosome 10
Ankyrin 3
Upload your DNA to see your personal genotypes for variants in ANK3.
What This Gene Does
Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"Ankyrin repeat domain containing|ZU5 domain containing "
Locus Type
gene with protein product
Location
10q21.2
Ensembl
ENSG00000151150
Associated Conditions (12)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
ANK3-related disorder
Inborn genetic diseases
Gastric cancer
Lung cancer
Cervical cancer
Familial cancer of breast
Intellectual disability
See cases
Abnormal brain morphology
Abnormality of the nervous system
Classic medulloblastoma
Key Variants
RS1064796340
Conflicting classifications of pathogenicity
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Health Risk
RS116757606
Conflicting classifications of pathogenicity
ANK3-related disorder, ANK3-related disorder
Health Risk
RS117475706
Conflicting classifications of pathogenicity
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Health Risk
RS12260663
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
Health Risk
RS138073935
Conflicting classifications of pathogenicity
Health Risk
RS138631688
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139022925
Conflicting classifications of pathogenicity
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
Health Risk
RS139379111
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139982397
Conflicting classifications of pathogenicity
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases, ANK3-related disorder
Health Risk
RS140183285
Conflicting classifications of pathogenicity
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases, ANK3-related disorder
Health Risk
RS140346169
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140741466
Conflicting classifications of pathogenicity
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder, Inborn genetic diseases
Health Risk
All Variants (96)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376931030 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377041799 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS41274676 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS41283530 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Familial cancer of breast, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS532643979 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS544357242 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS544709673 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS730882195 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS747014545 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS747475542 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748148709 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752017482 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752839113 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753530916 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753694698 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758576419 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759652500 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759805962 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS759998919 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS761212770 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761565516 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS764632652 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS767414907 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769577208 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770107349 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS773013509 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779062292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS78194762 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS993289778 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1060499742 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS1234025820 | Health Risk | Likely pathogenic | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS1589763169 | Health Risk | Likely pathogenic | — |
| RS2079078019 | Health Risk | Likely pathogenic | — |
| RS2132085924 | Health Risk | Likely pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2132649260 | Health Risk | Likely pathogenic | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS2493359669 | Health Risk | Likely pathogenic | — |
| RS142673853 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1590691724 | Health Risk | Pathogenic | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS2082124375 | Health Risk | Pathogenic | — |
| RS2082373823 | Health Risk | Pathogenic | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS2131982810 | Health Risk | Pathogenic | ANK3-related disorder, ANK3-related disorder |
| RS2492555276 | Health Risk | Pathogenic | Classic medulloblastoma, Classic medulloblastoma |
| RS2493571476 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS759973241 | Health Risk | Pathogenic | — |
| RS879255535 | Health Risk | Pathogenic | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |
| RS2084966849 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome |