AlphaFold predicted structure
RARB · P10826
Mean pLDDT
79.7/ 100
Confident
455 residues
Confidence breakdown
- Very high(≥ 90)66%
- Confident(70–90)4%
- Low(50–70)6%
- Very low(< 50)24%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RARB
Chr 3p24.2retinoic acid receptor beta
- Aliases:
- HAP, NR1B2, RRB2, RARbeta, RAR-beta
- MANE:
- ENST00000330688.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOcular coloboma
BOTH monoallelic and biallelic, autosomal or pseudoautosomalStructural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalClefting
BIALLELIC, autosomal or pseudoautosomalMonogenic hearing loss
Disease associations (Open Targets)
microphthalmia, syndromic 12
0.78Matthew-Wood syndrome
0.63acne
0.61acute promyelocytic leukemia
0.59psoriasis
0.59psoriasis vulgaris
0.57hyperpigmentation of the skin
0.54freckles
0.52neoplasm
0.49microphthalmia
0.47
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Retinoic acid receptor beta
Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors (PubMed:12554770). The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element (PubMed:29021580). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity)
Diseases associated with RARB
Curated MONDO disease pages that list RARB among their top associated genes.