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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC22A10
solute carrier family 22 member 10 (gene/pseudogene)
Chromosome 11 · 11q12.3
NCBI Gene: 387775Ensembl: ENSG00000184999.14HGNC: HGNC:18057UniProt: Q63ZE4
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transmembrane transporter activityorganic anion transportplasma membranetransmembrane transportscoliosisgastroparesisAbnormality of the skeletal systemMalignant Pancreatic Neoplasm
✦AI Summary

SLC22A10 encodes a member of the solute carrier family 22, classified as an organic anion transporter based on sequence homology 1. However, human SLC22A10 is functionally a unitary pseudogene, inactivated by a fixed missense mutation (P220) that prevents plasma membrane localization 23. In contrast, SLC22A10 orthologs in great apes retain transport function and transport estradiol-17β-glucuronide and conjugated sex hormones with high efficiency (>4-fold accumulation, p<0.001) 23. This functional loss occurred during hominin evolution after divergence from the pan lineage, as Neanderthal and Denisovan genomes retain the ancestral proline 220 sequence 4. Site-directed mutagenesis restoring the leucine at position 220 (P220L) rescues plasma membrane localization and uptake function in human SLC22A10 2. Despite being non-functional in humans, rare variants in SLC22A10 associate with Alzheimer's disease biomarkers reflecting neuronal injury and inflammation 5, and with opioid dependence susceptibility 6. Gene expression is regulated by hepatocyte nuclear factor-1α (HNF-1α) 7, suggesting residual regulatory relevance in humans.

Sources cited
1
Human SLC22A10 is a pseudogene with P220 mutation preventing plasma membrane localization; great ape orthologs transport estradiol-17β-glucuronide
PMID: 37609337
2
Confirms human SLC22A10 pseudogene status and great ape transporter function for sex steroid conjugates
PMID: 38782905
3
SLC22A10 inactivation during hominin evolution; Neanderthal/Denisovan genomes show ancestral sequence
PMID: 37790518
4
Rare SLC22A10 variants associate with Alzheimer's disease CSF biomarkers of neuronal injury and inflammation
PMID: 35173266
5
SLC22A10 identified as top gene in burden testing for opioid dependence rare variants
PMID: 41052974
6
SLC22A10 classified in OATS4 subgroup with conjugated sex hormone substrate specificity
PMID: 32150922
7
SLC22A10 (OAT5) promoter regulated by hepatocyte nuclear factor-1α
PMID: 20829431
Disease Associationsⓘ20
gastroparesisOpen Targets
0.28Weak
scoliosisOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.09Suggestive
Malignant Pancreatic NeoplasmOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
glycoprotein storage diseaseOpen Targets
0.05Suggestive
ovarian dysfunctionOpen Targets
0.05Suggestive
neuronal ceroid lipofuscinosis 1Open Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
combined immunodeficiency due to OX40 deficiencyOpen Targets
0.04Suggestive
familial isolated congenital aspleniaOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
Felty's syndromeOpen Targets
0.04Suggestive
crush injuryOpen Targets
0.04Suggestive
Dental malocclusionOpen Targets
0.04Suggestive
erythroleukemia, familial, susceptibility toOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC22A25Shared pathway100%SLC25A1Shared pathway50%SLC22A9Shared pathway50%SLC22A24Shared pathway50%SLC25A32Shared pathway33%SLC16A6Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Brain
1%
Lung
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
SLC22A10SLC22A25SLC25A1SLC22A9SLC22A24SLC25A32SLC16A6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q63ZE4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.83–1.34]
RankingsWhere SLC22A10 stands among ~20K protein-coding genes
  • #17,441of 20,598
    Most Researched9
  • #14,002of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedSLC22A10
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Illuminating the Function of the Orphan Transporter, SLC22A10 in Humans and Other Primates.
PMID: 37609337
bioRxiv · 2023
1.00
2
Illuminating the function of the orphan transporter, SLC22A10, in humans and other primates.
PMID: 38782905
Nat Commun · 2024
0.90
3
Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer's disease CSF profile of neuronal injury and inflammation.
PMID: 35173266
Mol Psychiatry · 2022
0.80
4
Whole-exome sequencing study of opioid dependence offers novel insights into the contributions of exome variants.
PMID: 41052974
Transl Psychiatry · 2025
0.70
5
Illuminating the Function of the Orphan Transporter, SLC22A10 in Humans and Other Primates.
PMID: 37790518
Res Sq · 2023
0.60