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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SNX10
sorting nexin 10
Chromosome 7 Β· 7p15.2
NCBI Gene: 29887Ensembl: ENSG00000086300.17HGNC: HGNC:14974UniProt: B4DJM0
40PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
centrosomeprotein binding1-phosphatidylinositol bindingATPase bindingAutosomal recessive malignant osteopetrosishypertensionmetabolic syndromeresponse to xenobiotic stimulus
✦AI Summary

SNX10 is a phosphoinositide-binding protein that functions as a critical regulator of endosomal trafficking and cellular homeostasis. The protein localizes to early endocytic compartments in a PtdIns3P-dependent manner and modulates protein sorting between endosomes and other cellular compartments 1. SNX10 plays essential roles in multiple cellular processes, including regulation of mitochondrial bioenergetics by negatively modulating piecemeal mitophagy of OXPHOS machinery components 1. In cancer biology, SNX10 affects HER2 trafficking by regulating endosomal RAB11A, with deficiency leading to increased HER2 lysosomal degradation and reduced cell-surface expression 2. The protein also mediates macrophage metabolic reprogramming in atherosclerosis through the Lyn-dependent TFEB signaling pathway 3. Clinically, SNX10 mutations cause autosomal recessive osteopetrosis, a rare bone disease characterized by dense, fragile bones due to osteoclast dysfunction 45. SNX10 deficiency in zebrafish results in elevated ROS levels and ROS-mediated neuronal death, demonstrating its importance in maintaining cellular redox homeostasis 1. These diverse functions establish SNX10 as a multifunctional protein essential for normal cellular trafficking, metabolism, and bone homeostasis.

Sources cited
1
SNX10 localizes to endosomes in PtdIns3P-dependent manner and negatively regulates piecemeal mitophagy
PMID: 40052924
2
SNX10 regulates HER2 trafficking via endosomal RAB11A and affects anti-HER2 ADC sensitivity
PMID: 40228127
3
SNX10 mediates macrophage metabolic reprogramming through Lyn-dependent TFEB signaling in atherosclerosis
PMID: 32316875
4
SNX10 mutations cause infantile malignant osteopetrosis with anemia and hepatosplenomegaly
PMID: 33678645
5
SNX10 mutations are responsible for autosomal recessive osteopetrosis cases
PMID: 30898715
Disease Associationsβ“˜21
Autosomal recessive malignant osteopetrosisOpen Targets
0.79Strong
hypertensionOpen Targets
0.42Moderate
metabolic syndromeOpen Targets
0.41Moderate
response to xenobiotic stimulusOpen Targets
0.40Weak
smoking behaviorOpen Targets
0.34Weak
cardiovascular diseaseOpen Targets
0.31Weak
male reproductive organ cancerOpen Targets
0.29Weak
osteopetrosisOpen Targets
0.28Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
nephrotic syndromeOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
heart diseaseOpen Targets
0.12Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
colorectal carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
placenta praeviaOpen Targets
0.09Suggestive
disorder of earOpen Targets
0.08Suggestive
cervical carcinomaOpen Targets
0.08Suggestive
colitisOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
Osteopetrosis, autosomal recessive 8UniProt
Pathogenic Variants21
NM_013322.3(SNX10):c.152G>A (p.Arg51Gln)Pathogenic
Autosomal recessive osteopetrosis 8|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 51
NM_013322.3(SNX10):c.151C>T (p.Arg51Ter)Pathogenic
Autosomal recessive osteopetrosis 8|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 51
NM_013322.3(SNX10):c.162T>A (p.Tyr54Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 54
NM_013322.3(SNX10):c.338C>G (p.Ser113Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 113
NM_013322.3(SNX10):c.95A>C (p.Tyr32Ser)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 32
NM_013322.3(SNX10):c.193C>T (p.Gln65Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 65
NM_013322.3(SNX10):c.311+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_013322.3(SNX10):c.332T>A (p.Leu111Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 111
NM_013322.3(SNX10):c.46C>T (p.Arg16Ter)Pathogenic
Autosomal recessive osteopetrosis 8|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 16
NM_013322.3(SNX10):c.112-1G>CLikely pathogenic
Osteopetrosis
β˜…β˜†β˜†β˜†2024
NM_013322.3(SNX10):c.295G>T (p.Glu99Ter)Likely pathogenic
Autosomal recessive osteopetrosis 8
β˜…β˜†β˜†β˜†2024β†’ Residue 99
NM_013322.3(SNX10):c.249_250insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCAGGGAGGCTGCAGTGAGCCGAGATGGCAGCAGCACCGTCCAGCCTTGGCTCGGCATCAGAGGGAGACCCTAAAAACCTGTTTTTC (p.Asn84fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 84
NM_013322.3(SNX10):c.86dup (p.Tyr29Ter)Likely pathogenic
Autosomal recessive osteopetrosis 8
β˜…β˜†β˜†β˜†2024β†’ Residue 29
NM_013322.3(SNX10):c.111+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_013322.3(SNX10):c.213-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_013322.3(SNX10):c.24+1G>ALikely pathogenic
not provided|Gastric cancer
β˜…β˜†β˜†β˜†2022
NM_013322.3(SNX10):c.87C>A (p.Tyr29Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 29
NM_013322.3(SNX10):c.85_86insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTGGCATTCTT (p.Tyr29fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 29
NM_013322.3(SNX10):c.16C>T (p.Gln6Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 6
NM_013322.3(SNX10):c.230del (p.Pro77fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 77
View on ClinVar β†—
Related Genes
CLCN7Protein interaction78%PLEKHM1Protein interaction78%TCIRG1Protein interaction78%OSTM1Protein interaction78%FAM149B1Shared pathway29%ASAP1Shared pathway29%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
88%
Liver
54%
Lung
21%
Heart
3%
Ovary
1%
Gene Interaction Network
Click a node to explore
SNX10CLCN7PLEKHM1TCIRG1OSTM1FAM149B1ASAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6KOK Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.52LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.60–1.52]
RankingsWhere SNX10 stands among ~20K protein-coding genes
  • #10,243of 20,598
    Most Researched40
  • #2,164of 5,498
    Most Pathogenic Variants21
  • #15,264of 17,882
    Most Constrained (LOEUF)1.52
Genes detectedSNX10
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Inhibiting sorting nexin 10 promotes mucosal healing through SREBP2-mediated stemness restoration of intestinal stem cells.
PMID: 37647408
Sci Adv Β· 2023
1.00
2
SNX10 deficiency impairs sensitivity to anti-HER2 antibody-drug conjugates via altering HER2 trafficking in HER2-positive breast cancer.
PMID: 40228127
Proc Natl Acad Sci U S A Β· 2025
0.90
3
SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review.
PMID: 33678645
Zhong Nan Da Xue Xue Bao Yi Xue Ban Β· 2021
0.80
4
Sorting Nexin 10 Mediates Metabolic Reprogramming of Macrophages in Atherosclerosis Through the Lyn-Dependent TFEB Signaling Pathway.
PMID: 32316875
Circ Res Β· 2020
0.70
5
SNX10 functions as a modulator of piecemeal mitophagy and mitochondrial bioenergetics.
PMID: 40052924
J Cell Biol Β· 2025
0.60