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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RIT2
Ras like without CAAX 2
Chromosome 18 · 18q12.3
NCBI Gene: 6014Ensembl: ENSG00000152214.15HGNC: HGNC:10017UniProt: Q99578
52PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellular signal transductionpositive regulation of neuron projection developmentmaintenance of protein location in cellregulation of endocytosisParkinson diseasetype 2 diabetes mellitusAbnormality of the gastrointestinal tractrisk-taking behaviour
✦AI Summary

RIT2 (Ras like without CAAX 2) is a neuronal GTPase belonging to the Ras superfamily that functions as a critical regulator of dopaminergic signaling and cellular processes. RIT2 binds and exchanges GTP and GDP, and directly interacts with the dopamine transporter (DAT) to modulate dopamine reuptake through protein kinase C-stimulated endocytic trafficking 1. Additionally, RIT2 modulates activation of POU4F1 as a gene expression regulator and participates in intracellular signal transduction pathways, including regulation of Cdc42 protein signaling and positive regulation of the MAPK cascade. RIT2 is a well-established susceptibility gene for Parkinson's disease (PD), with the rs12456492 G allele conferring increased PD risk across multiple populations 2. Transcriptomic profiling identified RIT2-enriched neurons in the substantia nigra as a vulnerable cell type in PD, with reduced RIT2 expression implicated in disease pathogenesis 3. Beyond PD, RIT2 variants are associated with schizophrenia and autism 4. RIT2 also represents a proteomic therapeutic target in smoking behavior, with genetic liability for smoking-associated RIT2 inversely linked to longevity 5. Conditional dopaminergic RIT2 knockdown studies reveal sex-specific roles in cocaine sensitivity and striatal circuit function, demonstrating RIT2's importance for dopamine-dependent behaviors 6. These findings establish RIT2 as a multifunctional regulator of dopaminergic neurotransmission with significant relevance to neuropsychiatric disease pathogenesis.

Sources cited
1
RIT2 is a susceptibility gene for multiple neurological disorders including Parkinson's disease, schizophrenia, and autism
PMID: 29860660
2
RIT2-enriched neurons in the substantia nigra show vulnerability in Parkinson's disease, with reduced RIT2 expression implicated in disease pathogenesis
PMID: 38198537
3
RIT2 rs12456492 polymorphism may increase Parkinson's disease risk, particularly in Asian populations
PMID: 31818509
4
RIT2 is a brain protein associated with smoking behavior and a proteomic therapeutic target with favorable safety profile
PMID: 38888899
5
RIT2 rs12456492 G allele, GG and GA genotypes are significantly associated with increased Parkinson's disease risk
PMID: 26188085
6
RIT2 GTPase binds dopamine transporter and is required for PKC-stimulated dopamine transporter endocytosis in dopaminergic neurons
PMID: 32132171
7
RIT2 contains exceptionally long GA short tandem repeats with potential functional significance in gene expression
PMID: 34984576
8
Dopaminergic RIT2 knockdown produces sex-specific effects on cocaine sensitivity, dopamine transporter levels, and striatal circuit function
PMID: 31277075
Disease Associationsⓘ20
Parkinson diseaseOpen Targets
0.52Moderate
type 2 diabetes mellitusOpen Targets
0.40Moderate
Abnormality of the gastrointestinal tractOpen Targets
0.31Weak
risk-taking behaviourOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.26Weak
ovarian neoplasmOpen Targets
0.26Weak
atrial heart septal defectOpen Targets
0.26Weak
obesityOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.26Weak
substance abuseOpen Targets
0.26Weak
smoking initiationOpen Targets
0.26Weak
Lung AbscessOpen Targets
0.24Weak
contact dermatitisOpen Targets
0.23Weak
cutaneous lupus erythematosusOpen Targets
0.23Weak
bronchopneumoniaOpen Targets
0.23Weak
cardiomyopathyOpen Targets
0.23Weak
glomerulonephritisOpen Targets
0.23Weak
benign soft tissue neoplasmOpen Targets
0.21Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RIT1Protein interaction89%POU4F1Protein interaction83%LZTR1Protein interaction80%BRAFProtein interaction80%SLC6A3Protein interaction71%POU4F2Protein interaction70%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
1%
Liver
0%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
RIT2RIT1POU4F1LZTR1BRAFSLC6A3POU4F2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q99578
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.68LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.13 [0.76–1.68]
RankingsWhere RIT2 stands among ~20K protein-coding genes
  • #8,605of 20,598
    Most Researched52
  • #16,038of 17,882
    Most Constrained (LOEUF)1.68
Genes detectedRIT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RIT2: responsible and susceptible gene for neurological and psychiatric disorders.
PMID: 29860660
Mol Genet Genomics · 2018
1.00
2
Molecular profiling of human substantia nigra identifies diverse neuron types associated with vulnerability in Parkinson's disease.
PMID: 38198537
Sci Adv · 2024
0.90
3
Association of RIT2 and RAB7L1 with Parkinson's disease: a case-control study in a Taiwanese cohort and a meta-analysis in Asian populations.
PMID: 31818509
Neurobiol Aging · 2020
0.80
4
Major Psychiatric Disorders, Substance Use Behaviors, and Longevity.
PMID: 38888899
JAMA Psychiatry · 2024
0.70
5
RIT2 rs12456492 polymorphism and the risk of Parkinson's disease: A meta-analysis.
PMID: 26188085
Neurosci Lett · 2015
0.60