RARB Chromosome 3
Retinoic acid receptor beta
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What This Gene Does
This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
Retinoic acid receptors
Locus Type
gene with protein product
Location
3p24.2
Ensembl
ENSG00000077092
Associated Conditions (6)
Microphthalmia
syndromic 12
Inborn genetic diseases
Congenital ocular coloboma
Intellectual disability
autosomal dominant 48
Key Variants
RS1701697098
Conflicting classifications of pathogenicity
Microphthalmia, syndromic 12, Microphthalmia
Health Risk
RS201295268
Conflicting classifications of pathogenicity
Microphthalmia, syndromic 12, Microphthalmia
Health Risk
RS551369280
Conflicting classifications of pathogenicity
Microphthalmia, syndromic 12, Inborn genetic diseases
Health Risk
RS1553637470
Likely pathogenic
Microphthalmia, syndromic 12, Microphthalmia
Health Risk
RS1575553528
Likely pathogenic
Microphthalmia, syndromic 12, Microphthalmia
Health Risk
RS1701696937
Likely pathogenic
Microphthalmia, syndromic 12, Microphthalmia
Health Risk
RS1701834292
Likely pathogenic
Microphthalmia, syndromic 12, Microphthalmia
Health Risk
RS2125325458
Likely pathogenic
Microphthalmia, syndromic 12, Microphthalmia
Health Risk
RS2529457082
Likely pathogenic
Microphthalmia, Microphthalmia
Health Risk
RS2529761078
Likely pathogenic
Microphthalmia, Microphthalmia
Health Risk
RS2529761773
Likely pathogenic
Health Risk
RS2529826336
Likely pathogenic
Microphthalmia, Microphthalmia
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1701697098 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, syndromic 12, Microphthalmia |
| RS201295268 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, syndromic 12, Microphthalmia |
| RS551369280 | Health Risk | Conflicting classifications of pathogenicity | Microphthalmia, syndromic 12, Inborn genetic diseases |
| RS1553637470 | Health Risk | Likely pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS1575553528 | Health Risk | Likely pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS1701696937 | Health Risk | Likely pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS1701834292 | Health Risk | Likely pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS2125325458 | Health Risk | Likely pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS2529457082 | Health Risk | Likely pathogenic | Microphthalmia, Microphthalmia |
| RS2529761078 | Health Risk | Likely pathogenic | Microphthalmia, Microphthalmia |
| RS2529761773 | Health Risk | Likely pathogenic | — |
| RS2529826336 | Health Risk | Likely pathogenic | Microphthalmia, Microphthalmia |
| RS2529826385 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS869025221 | Health Risk | Likely pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS1131691740 | Health Risk | Pathogenic | — |
| RS2529761251 | Health Risk | Pathogenic | Microphthalmia, Microphthalmia |
| RS2529826095 | Health Risk | Pathogenic | Congenital ocular coloboma, Congenital ocular coloboma |
| RS397518481 | Health Risk | Pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS397518482 | Health Risk | Pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS397518483 | Health Risk | Pathogenic | Microphthalmia, syndromic 12, Inborn genetic diseases |
| RS1553637463 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1575553547 | Health Risk | Pathogenic/Likely pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS1701836507 | Health Risk | Pathogenic/Likely pathogenic | Microphthalmia, syndromic 12, Microphthalmia |
| RS869025222 | Health Risk | Pathogenic/Likely pathogenic | Microphthalmia, syndromic 12, Intellectual disability |