From NCBI Gene: Microphthalmia, syndromic 12From UniProt: Microphthalmia, syndromic, 12 (MCOPS12): A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS12 patients manifest variable features, including diaphragmatic hernia, pulmonary hypoplasia, and cardiac abnormalities. [MIM:615524]

     From NCBI Gene: 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] From UniProt: 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. In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function.

The following transcription factors affect gene expression:

• NF-kappaB
• NF-kappaB1
• C/EBPbeta
• STAT1
• STAT1beta
• STAT1alpha

Molecular Function:

• Dna Binding
• Drug Binding
• Retinoic Acid Receptor Activity
• Rna Polymerase Ii Regulatory Region Sequence-Specific Dna Binding
• Steroid Hormone Receptor Activity
• Zinc Ion Binding

Biological Processes:

• Embryonic Digestive Tract Development
• Embryonic Eye Morphogenesis
• Embryonic Hindlimb Morphogenesis
• Glandular Epithelial Cell Development
• Growth Plate Cartilage Development
• Multicellular Organism Growth
• Negative Regulation Of Apoptotic Process
• Negative Regulation Of Cell Proliferation
• Negative Regulation Of Chondrocyte Differentiation
• Negative Regulation Of Transcription From Rna Polymerase Ii Promoter
• Outflow Tract Septum Morphogenesis
• Positive Regulation Of Apoptotic Process
• Positive Regulation Of Cell Proliferation
• Positive Regulation Of Neuron Differentiation
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
• Regulation Of Myelination
• Retinal Pigment Epithelium Development
• Signal Transduction
• Striatum Development
• Transcription Initiation From Rna Polymerase Ii Promoter
• Ureteric Bud Development
• Ventricular Cardiac Muscle Cell Differentiation

Drug Bank:

• Adapalene
• Alitretinoin
• Tamibarotene
• Tazarotene
• Acitretin