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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CSRNP3
cysteine and serine rich nuclear protein 3
Chromosome 2 · 2q24.3
NCBI Gene: 80034Ensembl: ENSG00000178662.16HGNC: HGNC:30729UniProt: J3KQ49
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
DNA-binding transcription factor activity, RNA polymerase II-specificnucleuschromatinDNA-binding transcription factor activityneurodegenerative diseaseInsulin resistanceAbnormal urine sodium concentrationalcohol drinking
✦AI Summary

CSRNP3 is a nuclear transcription factor that binds the consensus DNA sequence 5'-AGAGTG-3' and functions as a transcriptional activator [UniProt annotation]. The protein localizes to the nucleus where it exhibits DNA-binding transcription factor activity specific to RNA polymerase II, enabling positive regulation of transcription and apoptotic processes [GO annotations]. Clinically, CSRNP3 has emerged as a candidate gene linked to multiple disease processes. In Alzheimer's disease, CSRNP3 was identified as a significant transcription factor whose alterations correlate with protein changes in the hippocampus, suggesting involvement in AD pathogenesis and potential therapeutic targeting 1. Additionally, CSRNP3 was identified as a susceptibility locus for metabolic syndrome in Japanese populations, implicating it in metabolic disease etiology 2. At the agricultural genomics level, CSRNP3 was among genes reshaped through human-mediated artificial selection in pig breeding, where it may contribute to phenotypic traits including body size and feed conversion efficiency 3. Finally, CSRNP3 showed altered expression in rat cardiovascular control centers in response to high-salt diet challenge, suggesting potential involvement in salt-sensitive hypertension pathogenesis 4. These findings position CSRNP3 as a multifunctional transcriptional regulator with relevance to neurodegeneration, metabolic disorders, and cardiovascular physiology.

Sources cited
1
CSRNP3 identified as significant transcription factor in Alzheimer's disease hippocampal protein alterations
PMID: 38554950
2
CSRNP3 gene introgressed and reshaped by artificial selection, contributing to pig body size and feed conversion efficiency
PMID: 34220966
3
CSRNP3 downregulated in nucleus tractus solitarii of hypertensive rats on high-salt diet
PMID: 32175184
4
CSRNP3 identified as candidate susceptibility locus for metabolic syndrome in Japanese populations
PMID: 28445147
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
Insulin resistanceOpen Targets
0.40Moderate
Abnormal urine sodium concentrationOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.35Weak
thyroid cancerOpen Targets
0.31Weak
ovarian neoplasmOpen Targets
0.30Weak
hypertensionOpen Targets
0.30Weak
obesityOpen Targets
0.28Weak
jaw diseaseOpen Targets
0.24Weak
diabetes mellitusOpen Targets
0.22Weak
type 2 diabetes mellitusOpen Targets
0.19Weak
ulcerative colitisOpen Targets
0.18Weak
external ear diseaseOpen Targets
0.17Weak
smoking initiationOpen Targets
0.11Weak
smoking cessationOpen Targets
0.10Weak
sign or symptomOpen Targets
0.08Suggestive
Abnormality of refractionOpen Targets
0.08Suggestive
substance abuseOpen Targets
0.08Suggestive
mathematical abilityOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PNMA2Shared pathway100%PHLDA1Shared pathway100%PNMA3Shared pathway100%BLIDShared pathway100%C3orf38Shared pathway100%PNMA5Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
42%
Ovary
30%
Liver
7%
Bone Marrow
5%
Lung
1%
Gene Interaction Network
Click a node to explore
CSRNP3PNMA2PHLDA1PNMA3BLIDC3orf38PNMA5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WYN3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.39Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.15–0.39]
RankingsWhere CSRNP3 stands among ~20K protein-coding genes
  • #16,432of 20,598
    Most Researched12
  • #1,886of 17,882
    Most Constrained (LOEUF)0.39 · top quartile
Genes detectedCSRNP3
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Molecular mechanisms implicated in protein changes in the Alzheimer's disease human hippocampus.
PMID: 38554950
Mech Ageing Dev · 2024
1.00
2
Genomic Analysis Reveals Human-Mediated Introgression From European Commercial Pigs to Henan Indigenous Pigs.
PMID: 34220966
Front Genet · 2021
0.75
3
A preliminary study of the effect of a high-salt diet on transcriptome dynamics in rat hypothalamic forebrain and brainstem cardiovascular control centers.
PMID: 32175184
PeerJ · 2020
0.50
4
Identification of rs7350481 at chromosome 11q23.3 as a novel susceptibility locus for metabolic syndrome in Japanese individuals by an exome-wide association study.
PMID: 28445147
Oncotarget · 2017
0.25