Gene: RAI1

Alternate names for this Gene: SMCR|SMS

Gene Summary: This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients.

Gene is located in Chromosome: 17

Location in Chromosome : 17p11.2

Description of this Gene: retinoic acid induced 1

Type of Gene: protein-coding

rs34717629 in RAI1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs112546679 in RAI1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4925114 in RAI1 gene and Body mass index PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs11656775 in RAI1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28566273 2017 An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

rs1555565243 in RAI1 gene and Dysmorphic features PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

rs62064086 in RAI1 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7219213 in RAI1 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10687766 in RAI1 gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs4925114 in RAI1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs3818717 in RAI1 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1555565243 in RAI1 gene and Multiple congenital anomalies PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

rs1555565243 in RAI1 gene and Overgrowth PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

rs4925114 in RAI1 gene and Parkinson Disease PMID 21738487 2011 Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

rs4925114 in RAI1 gene and Schizophrenia PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

rs3818717 in RAI1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.