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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SPNS3
SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)
Chromosome 17 · 17p13.2
NCBI Gene: 201305Ensembl: ENSG00000182557.9HGNC: HGNC:28433UniProt: Q6ZMD2
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtransmembrane transporter activitymembranetransmembrane transportEpiretinal membraneankylosing spondylitisBenign Thyroid Gland Neoplasmneurodegenerative disease
✦AI Summary

SPNS3 is a sphingolipid transporter belonging to the Spinster (SPNS) family of major facilitator superfamily (MFS) transporters 1. As a vertebrate ortholog of Drosophila spinster, SPNS3 participates in sphingolipid transportation across cell membranes 2, with particular involvement in sphingosine-1-phosphate signaling pathways 3. The protein contains 12 transmembrane segments characteristic of MFS transporters 1. In acute myeloid leukemia (AML), elevated SPNS3 expression promotes apoptosis resistance and is associated with poor prognosis, particularly in FLT3-ITD mutant AML 43. SPNS3 expression is regulated by the AC127521.1/MIR-139/SPNS3 competing endogenous RNA axis and FLT3-ITD mutations 3. High SPNS3 expression may maintain the AML microenvironment through sphingosine-1-phosphate signaling 3. Beyond AML, SPNS3 expression is significantly reduced in APOE ε4 carriers with Alzheimer's disease risk, suggesting involvement in neurological disease pathogenesis 5. SPNS3 is downregulated in colorectal cancer cells treated with cephalosporin-based chemotherapy combinations, correlating with enhanced apoptosis 6. Genomic regions containing SPNS3 are conserved across farmed mammals and associated with behavioral traits linked to human neuropsychiatric disorders 7.

Sources cited
1
SPNS3 is a vertebrate ortholog of Drosophila spinster proteins involved in lysosomal function and sphingolipid transport
PMID: 30939968
2
SPNS3 is an atypical MFS transporter with 12 transmembrane segments
PMID: 28878041
3
SPNS3 promotes apoptosis resistance in AML, is regulated by FLT3-ITD and ceRNA axis, and participates in sphingosine-1-phosphate signaling
PMID: 34608834
4
SPNS3 expression is associated with overall survival and poor prognosis in FLT3-ITD AML patients
PMID: 35249471
5
SPNS3 expression is significantly lower in APOE ε4 carriers, linking it to Alzheimer's disease risk
PMID: 33939248
6
SPNS3 is downregulated in colorectal cancer cells treated with cephalosporin-based chemotherapy combinations
PMID: 41272089
7
SPNS3 is located in conserved genomic regions associated with behavioral traits in farmed mammals and linked to human neuropsychiatric disorders
PMID: 33800722
8
SPNS3 is identified as a member of the SLC22 family of solute carriers with structural similarity to drug transporters
PMID: 17714910
Disease Associationsⓘ20
Epiretinal membraneOpen Targets
0.43Moderate
ankylosing spondylitisOpen Targets
0.29Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.17Weak
acute myeloid leukemiaOpen Targets
0.08Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.04Suggestive
renal hypodysplasia/aplasia 3Open Targets
0.04Suggestive
Mayer-Rokitansky-Kuster-Hauser syndromeOpen Targets
0.04Suggestive
Mayer-Rokitansky-Küster-Hauser syndromeOpen Targets
0.04Suggestive
Mayer-Rokitansky-Kuster-Hauser syndrome type 1Open Targets
0.04Suggestive
polycystic kidney disease 5Open Targets
0.03Suggestive
overhydrated hereditary stomatocytosisOpen Targets
0.03Suggestive
familial juvenile hyperuricemic nephropathy type 2Open Targets
0.03Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.03Suggestive
congenital neutropenia-myelofibrosis-nephromegaly syndromeOpen Targets
0.03Suggestive
Recurrent infections-myelofibrosis-nephromegaly syndromeOpen Targets
0.03Suggestive
46,XX ovotesticular disorder of sex developmentOpen Targets
0.03Suggestive
Testicular regression syndromeOpen Targets
0.03Suggestive
thrombocytopenia with congenital dyserythropoietic anemiaOpen Targets
0.03Suggestive
renal dysplasiaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC22A1Protein interaction89%SVOPLCo-mentioned in literature25%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
2%
Heart
1%
Lung
1%
Brain
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
SPNS3SLC22A1SVOPL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6ZMD2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.78–1.24]
RankingsWhere SPNS3 stands among ~20K protein-coding genes
  • #16,580of 20,598
    Most Researched12
  • #13,128of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedSPNS3
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Stories of
PMID: 30939968
J Neurogenet · 2019
1.00
2
Bioenergetic and inflammatory systemic phenotypes in Alzheimer's disease APOE ε4-carriers.
PMID: 33939248
Aging Cell · 2021
0.88
3
Upregulation of
PMID: 35249471
Leuk Lymphoma · 2022
0.75
4
A Systematic Review of Genomic Regions and Candidate Genes Underlying Behavioral Traits in Farmed Mammals and Their Link with Human Disorders.
PMID: 33800722
Animals (Basel) · 2021
0.63
5
Bioinformatics-based identification of SPNS3 (Spinster homolog 3) as a prognostic biomarker of apoptosis resistance in acute myeloid leukemia.
PMID: 34608834
Bioengineered · 2021
0.50