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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SNX31
sorting nexin 31
Chromosome 8 · 8q22.3
NCBI Gene: 169166Ensembl: ENSG00000174226.10HGNC: HGNC:28605UniProt: Q8N9S9
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphatidylinositol bindingintracellular protein transportendocytic recyclinghypertensionIncreased blood pressuremale infertilitytype 1 diabetes mellitus
✦AI Summary

SNX31 is a sorting nexin family protein involved in endocytic protein trafficking and recycling. As a member of the SNX-FERM subfamily, SNX31 possesses a FERM domain that facilitates endocytic transport and lysosomal degradation pathways 1. The protein binds phosphatidylinositol and functions in early endosome dynamics and intracellular protein transport [GO annotations]. SNX31 has emerged as a disease-relevant gene across multiple pathologies. In melanoma, SNX31 was identified as a novel driver mutation gene through permutation-based analysis of exome sequencing data 2. Notably, SNX31 has been implicated in nigrostriatal iron accumulation, a hallmark of neurodegeneration; transcriptome-wide association studies identified SNX31 as a putatively causal gene linked to brain iron homeostasis, potentially through coordination with metal ion transport pathways 3. SNX31 was also prioritized as a hub gene in vascular dementia pathogenesis through integrated WGCNA and machine learning analysis, though its expression changes showed inconsistent significance in validation studies 4. Additionally, SNX31 has been associated with schizophrenia risk in 22q11.2 deletion carriers 5, cognitive function in Hispanic/Latino populations 6, and prenatal lead exposure-associated DNA methylation changes 7. These findings suggest SNX31 contributes to multiple disease mechanisms, though its specific pathogenic mechanisms require further mechanistic investigation.

Sources cited
1
SNX31 identified as a novel driver mutation gene in melanoma through permutation-based exome analysis
PMID: 22817889
2
SNX31 identified as a putatively causal gene associated with nigrostriatal iron accumulation in TWAS analysis
PMID: 41380477
3
SNX31 belongs to SNX-FERM subfamily and possesses FERM domain for endocytic transport and lysosomal degradation
PMID: 38874037
4
SNX31 prioritized as hub gene in vascular dementia through WGCNA and machine learning analysis
PMID: 40609204
5
SNX31 frameshift mutation identified in schizophrenia case with 22q11.2 deletion
PMID: 24482440
6
SNX31 in basal ganglia shows suggestive association with cognitive function in Hispanic/Latino populations
PMID: 32699239
7
SNX31 hypermethylation associated with prenatal lead exposure in maternal blood
PMID: 33794742
Disease Associationsⓘ20
hypertensionOpen Targets
0.43Moderate
Increased blood pressureOpen Targets
0.38Weak
male infertilityOpen Targets
0.34Weak
type 1 diabetes mellitusOpen Targets
0.31Weak
ovarian dysfunctionOpen Targets
0.28Weak
spinal cord injuryOpen Targets
0.06Suggestive
mathematical abilityOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.03Suggestive
Eczematoid dermatitisOpen Targets
0.03Suggestive
deficiency anemiaOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
Hodgkins lymphomaOpen Targets
0.03Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
allergic rhinitisOpen Targets
0.02Suggestive
deep vein thrombosisOpen Targets
0.02Suggestive
dysplasiaOpen Targets
0.02Suggestive
chronic interstitial cystitisOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ARL4CShared pathway100%VPS26CShared pathway100%VPS26AShared pathway50%RAB28Shared pathway50%SYNRGShared pathway50%SNX15Shared pathway50%
Tissue Expression6 tissues
Heart
100%
Brain
56%
Ovary
13%
Liver
6%
Lung
3%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
SNX31ARL4CVPS26CVPS26ARAB28SYNRGSNX15
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N9S9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.67–1.10]
RankingsWhere SNX31 stands among ~20K protein-coding genes
  • #15,394of 20,598
    Most Researched16
  • #11,189of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedSNX31
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A landscape of driver mutations in melanoma.
PMID: 22817889
Cell · 2012
1.00
2
Identification of genes underlying nigrostriatal iron accumulation: transcriptome-wide association study of iron-sensitive brain MRI.
PMID: 41380477
EBioMedicine · 2026
0.90
3
Emerging Role of Sorting Nexin 17 in Human Health and Disease.
PMID: 38874037
Curr Protein Pept Sci · 2024
0.80
4
MIA and CD163 as promising diagnostic biomarkers in vascular dementia: A multi-method study combining WGCNA, machine learning with validation in animal models and clinical samples.
PMID: 40609204
Int Immunopharmacol · 2025
0.70
5
22q11.2 deletion carriers and schizophrenia-associated novel variants.
PMID: 24482440
Br J Psychiatry · 2014
0.60