HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RAI1
retinoic acid induced 1
Chromosome 17 Β· 17p11.2
NCBI Gene: 10743Ensembl: ENSG00000108557.21HGNC: HGNC:9834UniProt: Q7Z5J4
100PubMed Papers
21Diseases
0Drugs
160Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptionprotein bindingnucleoplasmcircadian regulation of gene expressionSmith-Magenis syndromegenetic disorderrai1-related disorderIntellectual disability
✦AI Summary

RAI1 is a dosage-sensitive transcriptional regulator critical for circadian rhythm control and neurodevelopmental function 1. It positively regulates core circadian clock components including CLOCK, BMAL1, PER1/3, and CRY1/2, thereby controlling circadian gene expression patterns 2. RAI1 functions as a transcription factor that modulates gene expression through chr17 remodeling and interaction with basal transcriptional machinery, affecting multiple biological pathways including circadian rhythm, lipid metabolism, and neurotransmitter function 3. RLoss of RAI1 function causes Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by intellectual disability, sleep disturbance, and behavioral problems, predominantly through haploinsufficiency when a 17p11.2 microdeletion encompasses RAI1 14. Conversely, RAI1 overexpression causes Potocki-Lupski syndrome with distinct sleep phenotypes including sleep initiation difficulties and circadian dysregulation 2. The severity of SMS features correlates with RAI1 dosage, with deletions causing more severe intellectual disability than isolated RAI1 point mutations 5. These findings establish RAI1 as a critical gene dosage-sensitive regulator whose proper expression levels are essential for normal neurodevelopment and circadian homeostasis.

Sources cited
1
RAI1 is a dosage-sensitive transcriptional regulator; haploinsufficiency causes Smith-Magenis syndrome with developmental delay, cognitive impairment, sleep disturbance, and behavioral problems
PMID: 35205380
2
RAI1 regulates circadian rhythm through CLOCK and other core circadian components; haploinsufficiency disrupts sleep while overexpression also causes sleep deficiencies with tissue-specific circadian uncoupling
PMID: 28794907
3
RAI1 is a transcription factor acting in circadian rhythm, lipid metabolism, and neurotransmitter function pathways; RAI1 gene dosage is crucial for normal regulation of these pathways
PMID: 21545756
4
Smith-Magenis syndrome is caused by haploinsufficiency of RAI1 on chromosome 17p11.2; RAI1 is likely involved in transcription
PMID: 18231123
5
17p11.2 deletions encompassing RAI1 are associated with lower intellectual functioning and more severe intellectual disability compared to isolated RAI1 pathogenic variants
PMID: 37628566
Disease Associationsβ“˜21
Smith-Magenis syndromeOpen Targets
0.79Strong
genetic disorderOpen Targets
0.54Moderate
rai1-related disorderOpen Targets
0.52Moderate
Intellectual disabilityOpen Targets
0.51Moderate
coffee consumptionOpen Targets
0.41Moderate
combined immunodeficiency due to ORAI1 deficiencyOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.35Weak
developmental disorder of mental healthOpen Targets
0.34Weak
skin neoplasmOpen Targets
0.30Weak
prostate carcinomaOpen Targets
0.28Weak
Eczematoid dermatitisOpen Targets
0.28Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
syndromic intellectual disabilityOpen Targets
0.27Weak
benign neoplasm of adrenal glandOpen Targets
0.26Weak
Rare genetic intellectual disabilityOpen Targets
0.26Weak
diabetes mellitusOpen Targets
0.24Weak
coronary atherosclerosisOpen Targets
0.23Weak
myocardial infarctionOpen Targets
0.23Weak
allergic rhinitisOpen Targets
0.23Weak
ileostomyOpen Targets
0.22Weak
Smith-Magenis syndromeUniProt
Pathogenic Variants160
NM_030665.4(RAI1):c.238C>T (p.Arg80Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 80
NM_030665.4(RAI1):c.4810C>T (p.Arg1604Ter)Pathogenic
Developmental disorder|not provided|Smith-Magenis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1604
NM_030665.4(RAI1):c.4678C>T (p.Arg1560Ter)Pathogenic
not provided|Smith-Magenis syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1560
NM_030665.4(RAI1):c.631C>T (p.Gln211Ter)Pathogenic
Smith-Magenis syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 211
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)Pathogenic
Inborn genetic diseases|Smith-Magenis syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 923
NM_030665.4(RAI1):c.2396dup (p.Gly800fs)Pathogenic
not provided|Smith-Magenis syndrome|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 800
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs)Pathogenic
Smith-Magenis syndrome|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 989
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter)Pathogenic
Smith-Magenis syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 5
NM_030665.4(RAI1):c.3265C>T (p.Arg1089Ter)Pathogenic
not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2024β†’ Residue 1089
NM_030665.4(RAI1):c.4681C>T (p.Arg1561Ter)Pathogenic
Smith-Magenis syndrome|RAI1-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 1561
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)Likely pathogenic
Intellectual disability|Smith-Magenis syndrome
β˜…β˜…β˜†β˜†2021β†’ Residue 653
NM_030665.4(RAI1):c.4122_4134del (p.Ser1374fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 1374
NM_030665.4(RAI1):c.2452dup (p.Val818fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 818
NM_030665.4(RAI1):c.1006C>T (p.Gln336Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 336
NM_030665.4(RAI1):c.4555C>T (p.Gln1519Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1519
NM_030665.4(RAI1):c.3041del (p.Pro1014fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1014
NM_030665.4(RAI1):c.1360_1375dup (p.Val459fs)Pathogenic
Smith-Magenis syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 459
NM_030665.4(RAI1):c.3097_3098delinsA (p.Pro1033fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1033
NM_030665.4(RAI1):c.43C>T (p.Gln15Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 15
NM_030665.4(RAI1):c.722C>G (p.Ala241Gly)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 241
View on ClinVar β†—
Related Genes
CAVIN3Shared pathway100%CLOCKProtein interaction81%WDR41Protein interaction71%CIARTShared pathway50%ZFHX3Shared pathway33%PASD1Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Lung
66%
Heart
60%
Brain
53%
Bone Marrow
45%
Liver
36%
Gene Interaction Network
Click a node to explore
RAI1CAVIN3CLOCKWDR41CIARTZFHX3PASD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z5J4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.13Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.07 [0.04–0.13]
RankingsWhere RAI1 stands among ~20K protein-coding genes
  • #4,803of 20,598
    Most Researched100 Β· top quartile
  • #465of 5,498
    Most Pathogenic Variants160 Β· top 10%
  • #137of 17,882
    Most Constrained (LOEUF)0.13 Β· top 1%
Genes detectedRAI1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Fumarate induces vesicular release of mtDNA to drive innate immunity.
PMID: 36890229
Nature Β· 2023
1.00
2
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
PMID: 35205380
Genes (Basel) Β· 2022
0.90
3
PMID: 20301487
0.80
4
Smith-Magenis syndrome.
PMID: 18231123
Eur J Hum Genet Β· 2008
0.70
5
The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses.
PMID: 15208624
Nat Immunol Β· 2004
0.60