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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC29A4
solute carrier family 29 member 4
Chromosome 7 · 7p22.1
NCBI Gene: 222962Ensembl: ENSG00000164638.12HGNC: HGNC:23097UniProt: Q7RTT9
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
neurotransmitter transmembrane transporter activitydopamine uptakeexport across plasma membranebasolateral plasma membraneneurodegenerative diseaseRectal abscessabscessAbnormality of the skeletal system
✦AI Summary

SLC29A4 encodes the plasma membrane monoamine transporter (PMAT), an electrogenic voltage-dependent transporter that mediates cellular uptake of bioactive amines and organic cations 123. PMAT utilizes the inside-negative membrane potential to facilitate organic cation transport in a Na+- and Cl−-independent, bidirectional manner 123. Transport is pH-dependent and enhanced under acidic conditions 453. PMAT transports monoamine neurotransmitters including serotonin, dopamine, norepinephrine, and histamine, supporting aminergic neurotransmission regulation 167. The transporter localizes to the apical membrane of choroid plexus epithelium, clearing cationic neurotoxins and xenobiotics from cerebrospinal fluid 8. PMAT dysfunction associates with autism spectrum disorder through impaired serotonin transport 9, type 2 diabetes and metformin intolerance via reduced metformin clearance 1011, and inflammatory bowel disease and postpartum depression risk 1213. PMAT also transports adenosine bidirectionally in cardiac tissue during ischemia 45. Sex-dependent behavioral responses to antidepressants suggest PMAT functions as a secondary monoamine transporter when primary transporters are saturated or blocked 14.

Sources cited
1
The transporter localizes to the apical membrane of choroid plexus epithelium, clearing cationic neurotoxins and xenobiotics from cerebrospinal fluid .
PMID: 23255610
2
PMAT dysfunction associates with autism spectrum disorder through impaired serotonin transport , type 2 diabetes and metformin intolerance via reduced metformin clearance , , and inflammatory bowel disease and postpartum depression risk , .
PMID: 25802735
3
Sex-dependent behavioral responses to antidepressants suggest PMAT functions as a secondary monoamine transporter when primary transporters are saturated or blocked .
PMID: 35741002
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
abscessOpen Targets
0.11Weak
Rectal abscessOpen Targets
0.11Weak
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
Crohn's diseaseOpen Targets
0.09Suggestive
angina pectorisOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.08Suggestive
inflammatory bowel diseaseOpen Targets
0.07Suggestive
congenital radioulnar synostosisOpen Targets
0.07Suggestive
Hashimoto's thyroiditisOpen Targets
0.06Suggestive
upper limb mesomelic dysplasiaOpen Targets
0.06Suggestive
Leri-Weill dyschondrosteosisOpen Targets
0.06Suggestive
AcheiropodiaOpen Targets
0.06Suggestive
ring chromosome 4Open Targets
0.05Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
metaphyseal anadysplasiaOpen Targets
0.05Suggestive
joint diseaseOpen Targets
0.05Suggestive
Léri-Weill dyschondrosteosisOpen Targets
0.05Suggestive
pacman dysplasiaOpen Targets
0.05Suggestive
fibular aplasia-ectrodactyly syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC47A1Protein interaction73%SLC47A2Protein interaction72%SLC28A3Protein interaction70%SLC18A2Protein interaction68%SLC22A3Protein interaction64%SLC22A1Protein interaction60%
Tissue Expression6 tissues
Brain
100%
Liver
37%
Ovary
15%
Heart
10%
Bone Marrow
6%
Lung
5%
Gene Interaction Network
Click a node to explore
SLC29A4SLC47A1SLC47A2SLC28A3SLC18A2SLC22A3SLC22A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q7RTT9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.70–1.19]
RankingsWhere SLC29A4 stands among ~20K protein-coding genes
  • #11,068of 20,598
    Most Researched35
  • #12,444of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedSLC29A4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Antidepressants and risk of inflammatory bowel disease: A drug-target Mendelian randomization study.
PMID: 40669713
J Affect Disord · 2025
1.00
2
Clinically significant findings of high-risk mutations in human SLC29A4 gene associated with diabetes mellitus type 2 in Pakistani population.
PMID: 34551672
J Biomol Struct Dyn · 2022
0.90
3
Autism spectrum disorder associated with low serotonin in CSF and mutations in the SLC29A4 plasma membrane monoamine transporter (PMAT) gene.
PMID: 25802735
Mol Autism · 2014
0.80
4
Impaired monoamine and organic cation uptake in choroid plexus in mice with targeted disruption of the plasma membrane monoamine transporter (Slc29a4) gene.
PMID: 23255610
J Biol Chem · 2013
0.70
5
Variation in the Plasma Membrane Monoamine Transporter (PMAT) (Encoded by
PMID: 30885951
Diabetes Care · 2019
0.60