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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC8A3
solute carrier family 8 member A3
Chromosome 14 · 14q24.2
NCBI Gene: 6547Ensembl: ENSG00000100678.21HGNC: HGNC:11070UniProt: B3KU59
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
perinuclear region of cytoplasmsynapseplasma membranecytosoladolescent idiopathic scoliosisinjurypreeclampsiacervical carcinoma
✦AI Summary

SLC8A3 (NCX3) encodes a sodium/calcium exchanger that mediates electrogenic Ca2+ export in exchange for Na+ influx across the cell membrane 1. This transporter is critical for maintaining intracellular calcium homeostasis in excitable tissues, particularly in brain and muscle, by rapidly restoring baseline Ca2+ levels following activation 2. SLC8A3 also functions in mitochondrial calcium homeostasis, regulating calcium efflux from mitochondria and supporting mitochondrial bioenergetics 3. The protein is essential for oligodendrocyte differentiation and myelination [UniProt reference via 45]. SLC8A3 exists as multiple tissue-specific isoforms produced through alternative splicing, with NCX3.2 predominant in brain and NCX3.3/3.4 variants in muscle 1. Disease relevance includes autism spectrum disorder, where SLC8A3 variants have been identified as potentially pathogenic candidates 5, and cancer, where SLC8A3 knockdown reduces cell proliferation and migration while promoting apoptosis in colorectal and lung squamous carcinoma cells 67. Additionally, SLC8A3 expression is regulated by TGF-β signaling to prevent oxidative stress in developing dopaminergic neurons 2, and altered SLC8A3 expression promotes atrial arrhythmogenesis 8.

Sources cited
1
SLC8A3 gene location on chromosome 14q24.2 and characterization of tissue-specific NCX3 isoforms produced through alternative splicing
PMID: 12406570
2
SLC8A3 regulation by TGF-β signaling in developing dopaminergic and serotonergic neurons and its role in preventing oxidative stress
PMID: 32326436
3
SLC8A3/NCX3 role in cancer cell apoptosis, migration, proliferation, and mitochondrial bioenergetics
PMID: 40328013
4
SLC8A3 identified as candidate gene with potentially pathogenic variants in autism spectrum disorder
PMID: 39632905
5
SLC8A3 validated as tumor suppressor gene affecting colorectal cancer cell growth and migration
PMID: 39006025
6
SLC8A3 mediates BRF2-regulated mitochondrial homeostasis and anti-apoptotic effects in lung squamous carcinoma
PMID: 40610422
7
SLC8A3 expression altered in cardiac atria and associated with arrhythmogenesis under adrenergic stress
PMID: 37122217
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.31Weak
injuryOpen Targets
0.28Weak
preeclampsiaOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.24Weak
Intrahepatic cholestasis of pregnancyOpen Targets
0.23Weak
malignant hyperthermia, susceptibility to, 1Open Targets
0.12Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.09Suggestive
tuberculosisOpen Targets
0.05Suggestive
tubular aggregate myopathyOpen Targets
0.05Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
corneal edemaOpen Targets
0.04Suggestive
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.04Suggestive
Proximal spinal muscular atrophy type 4Open Targets
0.04Suggestive
spinal muscular atrophy, type IVOpen Targets
0.04Suggestive
myopathy, distal, 5Open Targets
0.03Suggestive
Charcot-Marie-Tooth disease axonal type 2CCOpen Targets
0.03Suggestive
isolated hyperchlorhidrosisOpen Targets
0.03Suggestive
inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
AKAP1Protein interaction100%PRKG1Protein interaction96%PRKG2Protein interaction96%PRKACAProtein interaction92%PRKACBProtein interaction92%PRKACGProtein interaction91%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
12%
Lung
11%
Heart
3%
Liver
3%
Ovary
0%
Gene Interaction Network
Click a node to explore
SLC8A3AKAP1PRKG1PRKG2PRKACAPRKACBPRKACG
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P57103
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.45–0.79]
RankingsWhere SLC8A3 stands among ~20K protein-coding genes
  • #9,785of 20,598
    Most Researched43
  • #6,569of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedSLC8A3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human SLC8A3 gene and the tissue-specific Na+/Ca2+ exchanger 3 isoforms.
PMID: 12406570
Gene · 2002
1.00
2
Translatome profiling reveals Itih4 as a novel smooth muscle cell-specific gene in atherosclerosis.
PMID: 38289873
Cardiovasc Res · 2024
0.90
3
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.
PMID: 39632905
NPJ Genom Med · 2024
0.80
4
TFIIB-related factor 2 inhibits lung squamous carcinoma cell apoptosis through SLC8A3-mediated mitochondrial homeostasis.
PMID: 40610422
Cell Death Dis · 2025
0.70
5
TGF-β Signaling Regulates SLC8A3 Expression and Prevents Oxidative Stress in Developing Midbrain Dopaminergic and Dorsal Raphe Serotonergic Neurons.
PMID: 32326436
Int J Mol Sci · 2020
0.60