CUL3 Chromosome 2
Cullin 3
Upload your DNA to see your personal genotypes for variants in CUL3.
What This Gene Does
This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
Cullins
Locus Type
gene with protein product
Location
2q36.2
Ensembl
ENSG00000036257
Associated Conditions (18)
Inborn genetic diseases
Neurodevelopmental delay
Neurodevelopmental disorder with or without autism or seizures
Pseudohypoaldosteronism type 2E
Autism spectrum disorder
NK-cell enteropathy
Neurodevelopmental abnormality
Intellectual disability
CUL3-related disorder
Neurodevelopmental disorder
Pseudohypoaldosteronism type 2A
Neurodevelopmental disorder without autism with seizures
NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES
Complex neurodevelopmental disorder
NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES
Autosomal dominant pseudohypoaldosteronism type 1
Abnormal cardiovascular system morphology
Key Variants
RS1366380820
Conflicting classifications of pathogenicity
Health Risk
RS1553602498
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental delay, Inborn genetic diseases
Health Risk
RS190453078
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without autism or seizures, Pseudohypoaldosteronism type 2E, Neurodevelopmental disorder with or without autism or seizures
Health Risk
RS2106202524
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
Health Risk
RS2106202854
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2106223773
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures
Health Risk
RS368109133
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS532967850
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
Health Risk
RS555995940
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
Health Risk
RS556914502
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
Health Risk
RS747752633
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758182990
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
Health Risk
All Variants (89)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199469653 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2E |
| RS199469654 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2E |
| RS199469655 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469656 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2E |
| RS199469657 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469658 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469659 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS201496024 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2E, Neurodevelopmental disorder with or without autism or seizures, Pseudohypoaldosteronism type 2E |
| RS2106152180 | Health Risk | Pathogenic | — |
| RS2106196612 | Health Risk | Pathogenic | CUL3-related disorder, CUL3-related disorder |
| RS2106220457 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2106220741 | Health Risk | Pathogenic | — |
| RS2106220962 | Health Risk | Pathogenic | Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS2106223392 | Health Risk | Pathogenic | — |
| RS2106223664 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2106223668 | Health Risk | Pathogenic | CUL3-related disorder, Inborn genetic diseases, CUL3-related disorder |
| RS2106264622 | Health Risk | Pathogenic | — |
| RS2106304000 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2106304068 | Health Risk | Pathogenic | — |
| RS2469185166 | Health Risk | Pathogenic | — |
| RS2469908116 | Health Risk | Pathogenic | — |
| RS2469919171 | Health Risk | Pathogenic | — |
| RS2469957229 | Health Risk | Pathogenic | — |
| RS2469971419 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469973914 | Health Risk | Pathogenic | — |
| RS2469974019 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469974393 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E |
| RS2469982052 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2469984456 | Health Risk | Pathogenic | — |
| RS2470001056 | Health Risk | Pathogenic | CUL3-related disorder, CUL3-related disorder |
| RS2470001180 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without autism or seizures, Neurodevelopmental disorder with or without autism or seizures |
| RS2470003952 | Health Risk | Pathogenic | — |
| RS981700726 | Health Risk | Pathogenic | NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES, NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES |
| RS1553521389 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553523940 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Pseudohypoaldosteronism type 2E, Neurodevelopmental disorder with or without autism or seizures |
| RS1553535841 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant pseudohypoaldosteronism type 1, NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES, Autosomal dominant pseudohypoaldosteronism type 1 |
| RS1692335353 | Health Risk | Pathogenic/Likely pathogenic | Abnormal cardiovascular system morphology, Neurodevelopmental disorder with or without autism or seizures, Abnormal cardiovascular system morphology |
| RS1692588792 | Health Risk | Pathogenic/Likely pathogenic | CUL3-related disorder, CUL3-related disorder |
| RS199469660 | Health Risk | Pathogenic/Likely pathogenic | Pseudohypoaldosteronism type 2A, CUL3-related disorder, Pseudohypoaldosteronism type 2A |