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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SLC9A9
solute carrier family 9 member A9
Chromosome 3 Β· 3q24
NCBI Gene: 285195Ensembl: ENSG00000181804.16HGNC: HGNC:20653UniProt: Q8IVB4
44PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingrecycling endosomeearly endosomeregulation of intracellular pHautismcolorectal cancerbladder neck obstructionovarian neoplasm
✦AI Summary

SLC9A9 encodes a sodium/potassium-proton antiporter localized to recycling endosomes that regulates organellar pH by mediating electroneutral exchange of endosomal luminal H+ for cytosolic Na+ or K+ 1. By facilitating proton efflux, SLC9A9 counteracts V-ATPase-mediated acidification, thereby regulating endosome maturation and endocytic trafficking of plasma membrane receptors and neurotransmitters 2. The protein promotes transferrin receptor recycling to facilitate iron uptake and regulates synaptic transmission through axonal endosome pH control 1. SLC9A9 dysregulation associates with multiple neuropsychiatric disorders. Mutations in SLC9A9 affect calcineurin interaction and show age-dependent abnormal expression in ADHD rat models, suggesting a mechanistic link to ADHD pathophysiology 1. Genetic variants including rs9828519 dysregulate SLC9A9 expression in specific brain regions and associate with multiple sclerosis nonresponsiveness to interferon-beta treatment 3. Co-expression network analysis reveals SLC9A9 involvement in immune function, metabolism, apoptosis, and endocytosis relevant to autism spectrum disorder pathophysiology 2. Beyond neurology, SLC9A9 demonstrates oncogenic roles in colorectal, esophageal, and gastric cancers, correlating with EGFR signaling activation and worse prognosis 45. Genome-wide association studies identify SLC9A9 variants affecting plasma N-glycosylation, potentially through endosomal pH-dependent sialylation processes 6. These findings establish SLC9A9 as a multifunctional protein with therapeutic implications across neuropsychiatric and malignant diseases 7.

Sources cited
1
SLC9A9 regulates recycling endosome luminal pH and is implicated in ADHD with mutations affecting calcineurin interaction
PMID: 21858920
2
SLC9A9 genetic variants regulate expression in specific brain regions and associate with MS treatment nonresponsiveness
PMID: 27766536
3
SLC9A9 co-expression networks implicate roles in immune function, metabolism, apoptosis, and autism spectrum disorder
PMID: 27439572
4
SLC9A9 overexpression promotes colorectal cancer proliferation and metastasis via EGFR signaling
PMID: 28476790
5
SLC9A9 functions as oncogenic factor in gastric cancer via EGFR/PI3K/AKT pathway activation
PMID: 38824966
6
SLC9A9 variants associate with plasma N-glycosylation variation, potentially through endosomal pH effects on sialylation
PMID: 21908519
7
SLC9A9 is multifunctional protein with strong associations to neuropsychiatric diseases and cancers through endosome regulation and protein interactions
PMID: 32400953
Disease Associationsβ“˜21
autismOpen Targets
0.53Moderate
colorectal cancerOpen Targets
0.34Weak
bladder neck obstructionOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.29Weak
malunion fractureOpen Targets
0.29Weak
Varicose veinsOpen Targets
0.27Weak
cutaneous lupus erythematosusOpen Targets
0.27Weak
hyperpituitarismOpen Targets
0.27Weak
chondrocalcinosisOpen Targets
0.27Weak
iron metabolism diseaseOpen Targets
0.27Weak
scleritisOpen Targets
0.26Weak
knee injuryOpen Targets
0.25Weak
alcohol drinkingOpen Targets
0.24Weak
leukoplakia of penisOpen Targets
0.24Weak
kidney transplantOpen Targets
0.23Weak
skin diseaseOpen Targets
0.23Weak
skin infectionOpen Targets
0.23Weak
musculoskeletal system diseaseOpen Targets
0.23Weak
corneal ulcerOpen Targets
0.21Weak
neoplasmOpen Targets
0.10Suggestive
Autism 16UniProt
Pathogenic Variants2
NM_173653.4(SLC9A9):c.1774C>T (p.Gln592Ter)Likely pathogenic
Autism, susceptibility to, 16
β˜…β˜†β˜†β˜†2025β†’ Residue 592
NM_173653.4(SLC9A9):c.587del (p.Asn196fs)Pathogenic
Colorectal cancer
β˜†β˜†β˜†β˜†β†’ Residue 196
View on ClinVar β†—
Related Genes
DOCK3Protein interaction89%RACK1Protein interaction85%SLC9A2Shared pathway75%SLC9A7Shared pathway75%SLC9A4Shared pathway75%DIPK2AProtein interaction74%
Tissue Expression6 tissues
Ovary
100%
Brain
95%
Lung
81%
Heart
58%
Bone Marrow
56%
Liver
28%
Gene Interaction Network
Click a node to explore
SLC9A9DOCK3RACK1SLC9A2SLC9A7SLC9A4DIPK2A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8IVB4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.01LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.65–1.01]
RankingsWhere SLC9A9 stands among ~20K protein-coding genes
  • #9,653of 20,598
    Most Researched44
  • #4,457of 5,498
    Most Pathogenic Variants2
  • #9,844of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedSLC9A9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions.
PMID: 27766536
Mol Neurobiol Β· 2017
1.00
2
Sodium hydrogen exchanger 9 NHE9 (SLC9A9) and its emerging roles in neuropsychiatric comorbidity.
PMID: 32400953
Am J Med Genet B Neuropsychiatr Genet Β· 2020
0.90
3
SLC9A9 mutations, gene expression, and protein-protein interactions in rat models of attention-deficit/hyperactivity disorder.
PMID: 21858920
Am J Med Genet B Neuropsychiatr Genet Β· 2011
0.80
4
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
PMID: 34797406
Hum Genet Β· 2022
0.70
5
Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults.
PMID: 21908519
Hum Mol Genet Β· 2011
0.60