RBPJ Chromosome 4
Recombination signal binding protein for immunoglobulin kappa J region
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What This Gene Does
The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]
Gene Info
Gene Group
"PTF1 complex|IPT domain containing"
Locus Type
gene with protein product
Location
4p15.2
Ensembl
ENSG00000168214
Associated Conditions (3)
Inborn genetic diseases
Adams-Oliver syndrome 3
Type 2 diabetes mellitus
Key Variants
RS149497496
Conflicting classifications of pathogenicity
Health Risk
RS151051045
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201526714
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS770028859
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553878198
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553878211
Likely pathogenic
Adams-Oliver syndrome 3, Type 2 diabetes mellitus, Adams-Oliver syndrome 3
Health Risk
RS1553880029
Likely pathogenic
Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
Health Risk
RS1553882550
Likely pathogenic
Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
Health Risk
RS2475204247
Likely pathogenic
Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
Health Risk
RS387907270
Pathogenic
Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
Health Risk
RS387907271
Pathogenic
Adams-Oliver syndrome 3, Adams-Oliver syndrome 3
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149497496 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151051045 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201526714 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770028859 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1553878198 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553878211 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 3, Type 2 diabetes mellitus, Adams-Oliver syndrome 3 |
| RS1553880029 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 3, Adams-Oliver syndrome 3 |
| RS1553882550 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 3, Adams-Oliver syndrome 3 |
| RS2475204247 | Health Risk | Likely pathogenic | Adams-Oliver syndrome 3, Adams-Oliver syndrome 3 |
| RS387907270 | Health Risk | Pathogenic | Adams-Oliver syndrome 3, Adams-Oliver syndrome 3 |
| RS387907271 | Health Risk | Pathogenic | Adams-Oliver syndrome 3, Adams-Oliver syndrome 3 |