SLC16A2 — solute carrier family 16 member 2

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

99PubMed Papers

#4,836 · top 25% of 19K genes

21Diseases

top 14%

0Drugs

113Pathogenic Variants

top 13%

OMIM Disease GeneHighly ConstrainedTransporterVariant-RichExperimental GO EvidenceSwiss-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 Associations21

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.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.1270G>A (p.Asp424Asn)Likely pathogenic

not provided|Spastic paraplegia|Allan-Herndon-Dudley syndrome

★★☆☆2022→ Residue 424

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

Tissue Expression6 tissues

Liver

100%

Ovary

36%

Heart

28%

Lung

11%

Brain

Bone Marrow

Gene Interaction Network6 neighbors

Click a node to explore

Structure6 PDB hits

Preparing viewer…

PDB9FOT · 3.00 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.28Highly Constrained

pLIⓘ

1.00Intolerant

Observed/Expected LoF0.11 [0.05–0.28]

Rankings3 dim

Where SLC16A2 stands among ~20K protein-coding genes

#4,856of 20,598
Most Researched99 · top quartile
#696of 5,509
Most Pathogenic Variants113 · top quartile
#1,017of 17,882
Most Constrained (LOEUF)0.28 · top 10%