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0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC16A2
solute carrier family 16 member 2
Chromosome X · Xq13.2
NCBI Gene: 6567Ensembl: ENSG00000147100.12HGNC: HGNC:10923UniProt: P36021
99PubMed Papers
21Diseases
0Drugs
113Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
amino acid import across plasma membraneprotein bindingplasma membraneapical plasma membraneAllan-Herndon-Dudley syndromeSpastic paraplegiagenetic disorderneurodegenerative disease
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

solute carrier family 16 member 2

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
Allan-Herndon-Dudley syndromeOpen Targets
0.85Strong
Spastic paraplegiaOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
Intellectual disabilityOpen Targets
0.35Weak
HypotoniaOpen Targets
0.34Weak
hereditary spastic paraplegiaOpen Targets
0.32Weak
Decreased activity of the pyruvate dehydrogenase complexOpen Targets
0.27Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.09Suggestive
hyperthyroxinemiaOpen Targets
0.08Suggestive
thyroid hormone metabolism, abnormal, 3Open Targets
0.07Suggestive
short stature due to partial GHR deficiencyOpen Targets
0.06Suggestive
thyroid hormone metabolism, abnormal 1Open Targets
0.06Suggestive
fetal growth restrictionOpen Targets
0.06Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.05Suggestive
selective pituitary resistance to thyroid hormoneOpen Targets
0.05Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.05Suggestive
hypothyroidism, congenital, nongoitrous, 9Open Targets
0.05Suggestive
Monocarboxylate transporter 8 deficiencyUniProt
Pathogenic Variants113
NM_006517.5(SLC16A2):c.359_360del (p.Ser120fs)Pathogenic
Inborn genetic diseases|Spastic paraplegia
★★☆☆2026→ Residue 120
NM_006517.5(SLC16A2):c.25G>T (p.Glu9Ter)Pathogenic
Spastic paraplegia|Allan-Herndon-Dudley syndrome
★★☆☆2025→ Residue 9
NM_006517.5(SLC16A2):c.1399+1G>APathogenic
not provided|Spastic paraplegia
★★☆☆2025
NM_006517.5(SLC16A2):c.653_660del (p.Val218fs)Pathogenic
Allan-Herndon-Dudley syndrome
★★☆☆2025→ Residue 218
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn)Likely pathogenic
not provided|Spastic paraplegia|Allan-Herndon-Dudley syndrome
★★☆☆2024→ Residue 424
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)Pathogenic
Allan-Herndon-Dudley syndrome|Spastic paraplegia|not provided
★★☆☆2024→ Residue 136
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)Pathogenic
Allan-Herndon-Dudley syndrome|Decreased activity of the pyruvate dehydrogenase complex|Spastic paraplegia|not provided
★★☆☆2024→ Residue 327
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)Pathogenic
Allan-Herndon-Dudley syndrome|not provided|Spastic paraplegia
★★☆☆2024→ Residue 314
NM_006517.5(SLC16A2):c.511C>T (p.Arg171Ter)Pathogenic
Allan-Herndon-Dudley syndrome|Spastic paraplegia
★★☆☆2023→ Residue 171
NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter)Pathogenic
not provided|Allan-Herndon-Dudley syndrome|Spastic paraplegia
★★☆☆2023→ Residue 52
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)Pathogenic
Allan-Herndon-Dudley syndrome|not provided|Inborn genetic diseases|Spastic paraplegia|Hereditary spastic paraplegia
★★☆☆2023→ Residue 371
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs)Pathogenic
Spastic paraplegia|Allan-Herndon-Dudley syndrome
★★☆☆2023→ Residue 33
NM_006517.5(SLC16A2):c.46C>T (p.Gln16Ter)Pathogenic
not provided|Spastic paraplegia
★★☆☆2021→ Residue 16
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)Pathogenic
Allan-Herndon-Dudley syndrome|not provided
★★☆☆2021→ Residue 150
NM_006517.5(SLC16A2):c.576-1G>APathogenic
not provided|Spastic paraplegia
★★☆☆2020
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)Pathogenic
Allan-Herndon-Dudley syndrome|not provided
★★☆☆2019→ Residue 156
NM_006517.5(SLC16A2):c.99_100del (p.Glu34fs)Pathogenic
Spastic paraplegia
★☆☆☆2026→ Residue 34
NM_006517.5(SLC16A2):c.1170+2T>ALikely pathogenic
Allan-Herndon-Dudley syndrome
★☆☆☆2025
NM_006517.5(SLC16A2):c.364G>C (p.Gly122Arg)Likely pathogenic
Inborn genetic diseases
★☆☆☆2025→ Residue 122
NM_006517.5(SLC16A2):c.166del (p.Gln56fs)Pathogenic
not provided
★☆☆☆2025→ Residue 56
View on ClinVar ↗
Related Genes
SLC16A10Protein interaction91%DIO2Protein interaction79%DIO3Protein interaction79%TRHProtein interaction79%SLCO4A1Protein interaction75%SLCO1A2Protein interaction73%
Tissue Expression6 tissues
Liver
100%
Ovary
36%
Heart
28%
Lung
11%
Brain
9%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SLC16A2SLC16A10DIO2DIO3TRHSLCO4A1SLCO1A2
PROTEIN STRUCTURE
Preparing viewer…
PDB9FOT · 3.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.28Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.11 [0.05–0.28]
RankingsWhere SLC16A2 stands among ~20K protein-coding genes
  • #4,856of 20,598
    Most Researched99 · top quartile
  • #691of 5,498
    Most Pathogenic Variants113 · top quartile
  • #1,017of 17,882
    Most Constrained (LOEUF)0.28 · top 10%
Genes detectedSLC16A2
Sources retrieved0 papers
Response time—