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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RIN3
Ras and Rab interactor 3
Chromosome 14 · 14q32.12
NCBI Gene: 79890Ensembl: ENSG00000100599.17HGNC: HGNC:18751UniProt: Q6NSK7
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmnegative regulation of receptor internalizationregulation of vesicle sizeguanyl-nucleotide exchange factor activityAbnormality of the skeletal systemasthmarespiratory system diseaseallergic rhinitis
✦AI Summary

RIN3 (Ras and Rab interactor 3) is a guanine nucleotide exchange factor (GEF) that activates RAB5B and RAB31 small GTPases to regulate endosomal trafficking and vesicle dynamics 1. The protein functions primarily in early endosome biology, controlling endocytic pathway progression and axonal transport of amyloid precursor protein (APP) 1. RIN3 has emerged as a significant Alzheimer's disease (AD) risk gene identified through genome-wide association studies in both late-onset and early-onset AD 23. RIN3 upregulation promotes endosomal enlargement and dysfunction by hyperactivating RAB5 through its GEF activity 14. This endosomal pathology facilitates amyloid-β accumulation and increases APP cleavage to generate neurotoxic carboxyl-terminal fragments 15. RIN3 interacts with other AD risk factors BIN1 and CD2AP at early endosomes, affecting endosomal homeostasis and neuronal trafficking 14. Clinically, cognitively healthy centenarians show enrichment of protective RIN3 alleles associated with >5-fold lower Alzheimer's disease polygenic risk scores compared to AD cases 6. Dysregulated 5-hydroxymethylcytosine modifications within the RIN3 locus associate with AD neuropathology 7. These findings position RIN3 as a key therapeutic target for endolysosomal dysfunction in AD pathogenesis.

Sources cited
1
RIN3 identified as AD risk gene through genome-wide association studies
PMID: 24951455
2
RIN3 upregulation causes endosomal enlargement, increased APP CTF generation, and phosphorylated Tau accumulation through RAB5 hyperactivation
PMID: 32552912
3
RIN3 shows rare-variant burden suggestive signal as AD risk factor in exome sequencing studies
PMID: 36411364
4
RIN3 GEF activity promotes endosomal dysfunction, beta-amyloid accumulation, and affects PICALM pathway and PTK2B immune function
PMID: 37995081
5
Cognitively healthy centenarians enriched with protective RIN3 alleles, showing >5-fold lower AD polygenic risk scores
PMID: 38634500
6
Differentially hydroxymethylated regions within RIN3 locus associate with AD neuropathology
PMID: 40121201
7
BIN1 regulates RIN3-driven RAB5 hyperactivation and endosomal enlargement in AD pathology
PMID: 41604486
8
RIN3 variants enriched in AD-associated loci implicating endocytic and immune dysfunction in LOAD
PMID: 34708251
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.48Moderate
asthmaOpen Targets
0.47Moderate
respiratory system diseaseOpen Targets
0.40Weak
allergic rhinitisOpen Targets
0.39Weak
primary biliary cirrhosisOpen Targets
0.39Weak
chronic rhinosinusitisOpen Targets
0.35Weak
Alzheimer diseaseOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.35Weak
Abnormal thrombosisOpen Targets
0.32Weak
allergic diseaseOpen Targets
0.32Weak
BlindnessOpen Targets
0.31Weak
Chronic Obstructive AsthmaOpen Targets
0.31Weak
infectious meningitisOpen Targets
0.31Weak
breast carcinomaOpen Targets
0.29Weak
endometriosisOpen Targets
0.28Weak
luminal A breast carcinomaOpen Targets
0.26Weak
schizophreniaOpen Targets
0.26Weak
male reproductive organ cancerOpen Targets
0.25Weak
rheumatoid arthritisOpen Targets
0.24Weak
Ovarian EndometriosisOpen Targets
0.22Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BIN1Protein interaction100%CD2APProtein interaction97%RAB5BProtein interaction93%RAB5AProtein interaction92%RAB31Protein interaction83%SLC24A4Protein interaction80%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
87%
Liver
51%
Heart
28%
Ovary
24%
Brain
9%
Gene Interaction Network
Click a node to explore
RIN3BIN1CD2APRAB5BRAB5ARAB31SLC24A4
PROTEIN STRUCTURE
Preparing viewer…
PDB3U23 · 1.11 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.67 [0.53–0.86]
RankingsWhere RIN3 stands among ~20K protein-coding genes
  • #11,224of 20,598
    Most Researched34
  • #7,572of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedRIN3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Alzheimer's disease risk genes and mechanisms of disease pathogenesis.
PMID: 24951455
Biol Psychiatry · 2015
1.00
2
Cognitively healthy centenarians are genetically protected against Alzheimer's disease.
PMID: 38634500
Alzheimers Dement · 2024
0.90
3
The Role of RIN3 Gene in Alzheimer's Disease Pathogenesis: a Comprehensive Review.
PMID: 37995081
Mol Neurobiol · 2024
0.80
4
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
PMID: 36411364
Nat Genet · 2022
0.70
5
Brain 5-hydroxymethylcytosine alterations are associated with Alzheimer's disease neuropathology.
PMID: 40121201
Nat Commun · 2025
0.60