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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RPAIN
RPA interacting protein
Chromosome 17 · 17p13.2
NCBI Gene: 84268Ensembl: ENSG00000129197.16HGNC: HGNC:28641UniProt: B3KTT3
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmprotein bindingprotein import into nucleusnucleusmenopausegestational diabetesneurodegenerative diseaseobesity
✦AI Summary

RPAIN (RPA interacting protein) serves multiple cellular functions, with its primary role being the mediation of RPA complex nuclear import, potentially through interactions with importin beta, and sumoylation-dependent localization of RPA complex to PML nuclear bodies for DNA metabolism functions. Recent research has identified significant disease associations for RPAIN. Genetic variants in RPAIN, particularly rs8070740, are associated with increased susceptibility to influenza A H1N1 infection, with the G allele conferring up to 3.3-fold increased risk 1. RPAIN variants have also been linked to HIV infection susceptibility, where upregulation may contribute to disease progression 2. In Alzheimer's disease, RPAIN is among five genes showing significant dysregulation in blood-based transcriptome analysis 3. Additionally, a long non-coding RNA variant of RPAIN (NR_027683.1) is significantly upregulated in early-onset preeclamptic placentas and functions as a pathogenic regulator by inhibiting trophoblast invasion and promoting apoptosis through downregulation of complement protein C1q 4. The gene has also emerged as a candidate disease gene through genotype-phenotype matching approaches 5. These findings suggest RPAIN plays critical roles in immune responses and cellular regulation, making it a potential therapeutic target for multiple conditions.

Sources cited
1
RPAIN rs8070740 G allele increases H1N1 influenza susceptibility up to 3.3-fold
PMID: 33766078
2
RPAIN genetic variants associated with HIV infection and upregulation may contribute to disease progression
PMID: 39086230
3
RPAIN identified as significantly dysregulated gene in Alzheimer's disease blood transcriptome analysis
PMID: 32755048
4
Long non-coding RNA RPAIN variant upregulated in preeclampsia and regulates trophoblast function via complement protein C1q
PMID: 28032589
5
RPAIN identified as candidate disease gene through genotype-phenotype matching
PMID: 38193396
Disease Associationsⓘ20
menopauseOpen Targets
0.29Weak
gestational diabetesOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.25Weak
obesityOpen Targets
0.17Weak
fetal akinesia deformation sequence 1Open Targets
0.12Weak
neoplasmOpen Targets
0.09Suggestive
preeclampsiaOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
deafnessOpen Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.03Suggestive
exudative vitreoretinopathyOpen Targets
0.03Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.03Suggestive
tricuspid valve diseaseOpen Targets
0.03Suggestive
joint diseaseOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
digestive system neoplasmOpen Targets
0.02Suggestive
occult macular dystrophyOpen Targets
0.02Suggestive
eye diseaseOpen Targets
0.02Suggestive
dementiaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPN1Shared pathway100%TNPO3Shared pathway100%RANBP6Shared pathway100%GPN3Shared pathway100%FAM53CShared pathway100%TMCO6Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
81%
Brain
55%
Liver
54%
Heart
51%
Lung
49%
Gene Interaction Network
Click a node to explore
RPAINGPN1TNPO3RANBP6GPN3FAM53CTMCO6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86UA6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.72–1.36]
RankingsWhere RPAIN stands among ~20K protein-coding genes
  • #12,869of 20,598
    Most Researched26
  • #14,199of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedRPAIN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
DISSyphilis and the Risk of HIV Infection: A Mendelian Randomization Study.
PMID: 39086230
AIDS Res Hum Retroviruses · 2025
1.00
2
Role of the Host Genetic Susceptibility to 2009 Pandemic Influenza A H1N1.
PMID: 33671828
Viruses · 2021
0.90
3
Cross-cultural adaptation and measurement properties of the Malay Shoulder Pain and Disability Index.
PMID: 35303002
PLoS One · 2022
0.80
4
Genome-wide transcriptome analysis identifies novel dysregulated genes implicated in Alzheimer's pathology.
PMID: 32755048
Alzheimers Dement · 2020
0.70
5
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
PMID: 38193396
Genet Med · 2024
0.60