| Symbol
| RARB
| contributors: mct/npt/pgu - updated : 25-11-2013
|
| HGNC name
| retinoic acid receptor, beta
|
| HGNC id
| 9865
|
| corresponding disease(s)
|
PAMD2
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --low
|
|
by hypermethylation in patients with familial partial lipodystrophy and LMNA gene mutations (R482L and R471G)  | | tumoral
|
|
| --low
|
| |
by promoter region methylation is an early event in endometrial carcinogenesis | | tumoral
|
| deletion
|
|
| |
or weakly expressed in esophageal cancer by hypermethylation of the promoter | | tumoral
|
|
| --low
|
| |
by hypermethylation in non-small cell lung cancer (NSCLC) more frequent in females compared to males | |
| Susceptibility
|
to meningomyelocele (MM) |
| Variant & Polymorphism
SNP
| rs6799734, rs12630816, rs17016462 conferred a protective effect for MM susceptibility |
| 
|
| Candidate gene
| detection of methylation of the gene in blood might have utility in monitoring and detecting tumor recurrence in early-stage non-small cell lung cancer after curative surgical resection |
Marker
| Therapy target
| AM580 (a RAR-specific agonist might be considered as a potential treatment for endometrial carcinoma | |
potential pharmacological target to the regulation of stem cell function (chondrogenesis can be induced using a synthetic inhibitor of the retinoic acid receptor) | |
| |