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9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC44A3
solute carrier family 44 member 3
Chromosome 1 · 1p21.3
NCBI Gene: 126969Ensembl: ENSG00000143036.17HGNC: HGNC:28689UniProt: B4DTF4
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtransmembrane transporter activitytransmembrane transportmembraneautoimmune thyroid diseasehemorrhoidvein disorderenteritis
✦AI Summary

SLC44A3 encodes a transmembrane choline transporter protein involved in phosphatidylcholine biosynthesis and bile acid transport 1. While its canonical function relates to choline metabolism, SLC44A3 has emerged as a disease-associated gene across multiple pathologies. In cardiovascular disease, a genome-wide association study of ~831,000 subjects identified SLC44A3 as specifically associated with myocardial infarction risk in the context of coronary artery disease, independent of atherosclerosis severity 1. The MI-risk allele correlates with increased aortic SLC44A3 expression, upregulation in ischemic coronary arteries, and enhanced smooth muscle cell migration following inflammatory stimulation 1. In oncology, SLC44A3 appears in multiple cancer-associated signatures: as a component of a 7-autoantibody panel for hepatocellular carcinoma early detection 2, within a 10-gene methylation-driven prognostic signature for uveal melanoma 3, in a three-gene glycosphingolipid biosynthetic risk score predicting uveal melanoma outcomes and immune dysregulation 4, and within an eight-gene lipid metabolism signature for cervical cancer progression 5. Additionally, a variant in SLC44A3 (p.C477R, rs115958260) was significantly associated with exertional rhabdomyolysis in sickle cell trait carriers 6. These associations suggest SLC44A3 functions beyond canonical choline transport in vascular inflammation, tumor microenvironment dynamics, and exercise-induced muscle pathology.

Sources cited
1
SLC44A3 associated with myocardial infarction risk in CAD context; increased expression in ischemic coronary arteries and promotes smooth muscle cell migration
PMID: 33532862
2
SLC44A3 identified in 7-autoantibody panel for hepatocellular carcinoma early detection with improved sensitivity over AFP
PMID: 32616055
3
SLC44A3 included in 10-methylation-driven gene signature as independent prognostic factor for uveal melanoma survival
PMID: 33367533
4
SLC44A3 component of three-gene glycosphingolipid biosynthetic risk score predicting uveal melanoma outcomes and CD8+ T cell/M2 macrophage infiltration
PMID: 41591675
5
SLC44A3 included in eight-gene lipid metabolism signature predicting cervical cancer progression-free survival
PMID: 37749448
6
SLC44A3 p.C477R variant significantly associated with exertional rhabdomyolysis in sickle cell trait carriers
PMID: 38674343
Disease Associationsⓘ20
autoimmune thyroid diseaseOpen Targets
0.34Weak
hemorrhoidOpen Targets
0.28Weak
vein disorderOpen Targets
0.26Weak
enteritisOpen Targets
0.26Weak
duodenitisOpen Targets
0.17Weak
ProptosisOpen Targets
0.16Weak
retinitis pigmentosaOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
early-onset non-syndromic cataractOpen Targets
0.05Suggestive
X-linked retinal dysplasiaOpen Targets
0.05Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Coats diseaseOpen Targets
0.04Suggestive
cataract 50 with or without glaucomaOpen Targets
0.04Suggestive
retinitis pigmentosa 84Open Targets
0.04Suggestive
Rare isolated myopiaOpen Targets
0.04Suggestive
Posterior polar cataractOpen Targets
0.04Suggestive
retinitis pigmentosa 86Open Targets
0.04Suggestive
birdshot chorioretinopathyOpen Targets
0.04Suggestive
Norrie diseaseOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC44A5Shared pathway100%SLC44A4Shared pathway75%SLC44A2Shared pathway75%SLC44A1Shared pathway75%SLC5A7Shared pathway33%SLC10A2Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Liver
72%
Lung
55%
Brain
47%
Ovary
28%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
SLC44A3SLC44A5SLC44A4SLC44A2SLC44A1SLC5A7SLC10A2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N4M1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.18LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.79–1.18]
RankingsWhere SLC44A3 stands among ~20K protein-coding genes
  • #15,388of 20,598
    Most Researched16
  • #12,320of 17,882
    Most Constrained (LOEUF)1.18
Genes detectedSLC44A3
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.
PMID: 33532862
Eur Heart J · 2021
1.00
2
Autoantibody signature in hepatocellular carcinoma using seromics.
PMID: 32616055
J Hematol Oncol · 2020
0.89
3
Role of SLC44A3-AS1 Enhancer RNA in Esophageal Cancer Prognosis.
PMID: 37691355
J Coll Physicians Surg Pak · 2023
0.78
4
Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans.
PMID: 38674343
Genes (Basel) · 2024
0.67
5
Machine learning-based integrative analysis of methylome and transcriptome identifies novel prognostic DNA methylation signature in uveal melanoma.
PMID: 33367533
Brief Bioinform · 2021
0.56