CUL4B Chromosome X
Cullin 4B
Upload your DNA to see your personal genotypes for variants in CUL4B.
What This Gene Does
This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Cullins
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000158290
Associated Conditions (10)
X-linked intellectual disability Cabezas type
Pettigrew syndrome
CUL4B-related disorder
Inborn genetic diseases
Global developmental delay
Abnormal facial shape
Intellectual disability
Seizure
Short stature
CUL4B-related X-linked intellectual disability
Key Variants
RS1199433297
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
Health Risk
RS1556173896
Conflicting classifications of pathogenicity
Pettigrew syndrome, Pettigrew syndrome
Health Risk
RS1556200641
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
Health Risk
RS1569390976
Conflicting classifications of pathogenicity
Health Risk
RS375607970
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type
Health Risk
RS754330779
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type
Health Risk
RS757649304
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, Inborn genetic diseases, X-linked intellectual disability Cabezas type
Health Risk
RS757896094
Conflicting classifications of pathogenicity
CUL4B-related disorder, Inborn genetic diseases, CUL4B-related disorder
Health Risk
RS760294805
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, Inborn genetic diseases, CUL4B-related disorder
Health Risk
RS769730471
Conflicting classifications of pathogenicity
Health Risk
RS869320682
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type
Health Risk
RS886043694
Conflicting classifications of pathogenicity
X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
Health Risk
All Variants (55)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1199433297 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1556173896 | Health Risk | Conflicting classifications of pathogenicity | Pettigrew syndrome, Pettigrew syndrome |
| RS1556200641 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1569390976 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375607970 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type |
| RS754330779 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type |
| RS757649304 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability Cabezas type, Inborn genetic diseases, X-linked intellectual disability Cabezas type |
| RS757896094 | Health Risk | Conflicting classifications of pathogenicity | CUL4B-related disorder, Inborn genetic diseases, CUL4B-related disorder |
| RS760294805 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability Cabezas type, Inborn genetic diseases, CUL4B-related disorder |
| RS769730471 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS869320682 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability Cabezas type, CUL4B-related disorder, X-linked intellectual disability Cabezas type |
| RS886043694 | Health Risk | Conflicting classifications of pathogenicity | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS992197854 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, X-linked intellectual disability Cabezas type, Inborn genetic diseases |
| RS1057518039 | Health Risk | Likely pathogenic | — |
| RS1057518598 | Health Risk | Likely pathogenic | — |
| RS1064794800 | Health Risk | Likely pathogenic | — |
| RS1260356990 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556200443 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569385075 | Health Risk | Likely pathogenic | — |
| RS1569389364 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1924000101 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1924346959 | Health Risk | Likely pathogenic | — |
| RS2147321510 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521046077 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521100200 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521106352 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521124270 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521136612 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521200386 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS905353542 | Health Risk | Likely pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1057519396 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1085307760 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS121434615 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS121434616 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, Global developmental delay, Abnormal facial shape |
| RS1379343211 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1556206910 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1556213001 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556216330 | Health Risk | Pathogenic | — |
| RS1556220623 | Health Risk | Pathogenic | Inborn genetic diseases, X-linked intellectual disability Cabezas type, Inborn genetic diseases |
| RS1569390220 | Health Risk | Pathogenic | — |
| RS1602567594 | Health Risk | Pathogenic | CUL4B-related disorder, CUL4B-related disorder |
| RS1602573558 | Health Risk | Pathogenic | — |
| RS1602577238 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS1923640463 | Health Risk | Pathogenic | — |
| RS2147321505 | Health Risk | Pathogenic | — |
| RS2521066233 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521066981 | Health Risk | Pathogenic | — |
| RS2521197429 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS2521198629 | Health Risk | Pathogenic | X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type |
| RS766506778 | Health Risk | Pathogenic | — |