RAI1 Chromosome 17
Retinoic acid induced 1
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PHD finger proteins
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000108557
Associated Conditions (13)
Inborn genetic diseases
RAI1-related disorder
Smith-Magenis syndrome
See cases
Developmental disorder
Intellectual disability
Vascular disorder
Syndromic intellectual disability
Neurodevelopmental disorder
Rare genetic intellectual disability
Thyroid cancer
nonmedullary
1
Key Variants
RS1008033481
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1026418716
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1030615093
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1054337797
Conflicting classifications of pathogenicity
Inborn genetic diseases, RAI1-related disorder, Inborn genetic diseases
Health Risk
RS113210810
Conflicting classifications of pathogenicity
Health Risk
RS1167192442
Conflicting classifications of pathogenicity
Health Risk
RS1169402682
Conflicting classifications of pathogenicity
Inborn genetic diseases, RAI1-related disorder, Inborn genetic diseases
Health Risk
RS1170875285
Conflicting classifications of pathogenicity
Smith-Magenis syndrome, Inborn genetic diseases, Smith-Magenis syndrome
Health Risk
RS1198795075
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1198803613
Conflicting classifications of pathogenicity
Health Risk
RS1214719967
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1220302158
Conflicting classifications of pathogenicity
Smith-Magenis syndrome, Inborn genetic diseases, Smith-Magenis syndrome
Health Risk
All Variants (308)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS886039715 | Health Risk | Pathogenic | — |
| RS886041916 | Health Risk | Pathogenic | — |
| RS886044681 | Health Risk | Pathogenic | — |
| RS961308480 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2032191929 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Smith-Magenis syndrome, Inborn genetic diseases |
| RS2143001434 | Health Risk | Pathogenic/Likely pathogenic | Smith-Magenis syndrome, Smith-Magenis syndrome |
| RS2508583396 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Smith-Magenis syndrome, Inborn genetic diseases |
| RS750728463 | Health Risk | Pathogenic/Likely pathogenic | Smith-Magenis syndrome, RAI1-related disorder, Smith-Magenis syndrome |