SLC26A2 — solute carrier family 26 member 2

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

84PubMed Papers

#5,659 · top 29% of 19K genes

24Diseases

top 1%

0Drugs

241Pathogenic Variants

top 5%

OMIM Disease GeneTransporterVariant-RichExperimental GO EvidenceSwiss-Prot Reviewed

plasma membranesulfate transmembrane transporter activityoxalate transmembrane transporter activityextracellular exosomemultiple epiphyseal dysplasia type 4atelosteogenesis type IIAchondrogenesis type 1Bachondrogenesis type IB

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

solute carrier family 26 member 2

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations24

multiple epiphyseal dysplasia type 4Open Targets

0.83Strong

atelosteogenesis type IIOpen Targets

0.81Strong

Achondrogenesis type 1BOpen Targets

0.81Strong

achondrogenesis type IBOpen Targets

0.79Strong

diastrophic dysplasiaOpen Targets

0.79Strong

Diastrophic dwarfismOpen Targets

0.67Moderate

osteochondrodysplasiaOpen Targets

0.65Moderate

multiple epiphyseal dysplasiaOpen Targets

0.56Moderate

sulfate transporter-related osteochondrodysplasiaOpen Targets

0.54Moderate

SLC26A2-related skeletal dysplasiaOpen Targets

0.52Moderate

Joubert syndrome and related disordersOpen Targets

0.51Moderate

connective tissue diseaseOpen Targets

0.49Moderate

3MC syndrome 2Open Targets

0.48Moderate

genetic disorderOpen Targets

0.42Moderate

achondrogenesisOpen Targets

0.41Moderate

SLC6A3-related dopamine transporter deficiency syndromeOpen Targets

0.37Weak

neurodegenerative diseaseOpen Targets

0.29Weak

open-angle glaucomaOpen Targets

0.27Weak

portal hypertensionOpen Targets

0.27Weak

atelosteogenesisOpen Targets

0.18Weak

Achondrogenesis 1BUniProt

Atelosteogenesis 2UniProt

Diastrophic dysplasiaUniProt

Multiple epiphyseal dysplasia 4UniProt

Pathogenic Variants241

NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)Pathogenic

★★☆☆2026→ Residue 279

NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)Pathogenic

★★☆☆2026→ Residue 178

NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)Pathogenic

Atelosteogenesis type II|Diastrophic dysplasia|Achondrogenesis, type IB|Sulfate transporter-related osteochondrodysplasia|Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4|Multiple epiphyseal dysplasia type 4|Connective tissue disorder

★★☆☆2026→ Residue 575

NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)Pathogenic

★★☆☆2026→ Residue 653

NM_000112.4(SLC26A2):c.916_929dup (p.Cys311fs)Pathogenic

Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4;Achondrogenesis, type IB;Atelosteogenesis type II|Achondrogenesis, type IB

★★☆☆2026→ Residue 311

NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)Pathogenic

★★☆☆2026→ Residue 341

NM_000112.4(SLC26A2):c.819del (p.Leu275fs)Pathogenic

Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia;Atelosteogenesis type II|Achondrogenesis, type IB

★★☆☆2026→ Residue 275

NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)Pathogenic

Achondrogenesis, type IB;Atelosteogenesis type II;Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia|Achondrogenesis, type IB|Atelosteogenesis type II

★★☆☆2026→ Residue 147

NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)Pathogenic

★★☆☆2026→ Residue 162

NM_000112.4(SLC26A2):c.-26+2T>CPathogenic

★★☆☆2025

NM_000112.4(SLC26A2):c.700-1G>CPathogenic

Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB;Atelosteogenesis type II;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|Osteochondrodysplasia

★★☆☆2025

NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter)Pathogenic

Achondrogenesis, type IB;Atelosteogenesis type II;Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia|Achondrogenesis, type IB

★★☆☆2025→ Residue 547

NM_000112.4(SLC26A2):c.870del (p.Thr289_Trp290insTer)Pathogenic

Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|Osteochondrodysplasia

★★☆☆2025→ Residue 289

NM_000112.4(SLC26A2):c.121C>T (p.Gln41Ter)Likely pathogenic

Achondrogenesis, type IB;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II|Achondrogenesis, type IB

★★☆☆2025→ Residue 41

NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)Pathogenic

Diastrophic dysplasia|Achondrogenesis, type IB|Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4

★★☆☆2025→ Residue 425

NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)Pathogenic

★★☆☆2025→ Residue 551

NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)Pathogenic

Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4;Achondrogenesis, type IB|Achondrogenesis, type IB|Osteochondrodysplasia

★★☆☆2025→ Residue 606

NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs)Pathogenic

not provided|Sulfate transporter-related osteochondrodysplasia|Achondrogenesis, type IB;Atelosteogenesis type II;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB

★★☆☆2025→ Residue 709

NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro)Pathogenic

Multiple epiphyseal dysplasia type 4|Diastrophic dysplasia;Achondrogenesis, type IB;Atelosteogenesis type II;Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB

★★☆☆2025→ Residue 665

NM_000112.4(SLC26A2):c.15_19del (p.Ser5fs)Pathogenic

Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II;Diastrophic dysplasia|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4

★★☆☆2025→ Residue 5

Tissue Expression6 tissues

Brain

100%

Lung

62%

Bone Marrow

41%

Heart

33%

Ovary

29%

Liver

10%

Gene Interaction Network6 neighbors

Click a node to explore

Structure4 PDB hits

Preparing viewer…

PDB8TNX · 3.03 Å · EM

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

1.09LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.83 [0.64–1.09]

Rankings3 dim

Where SLC26A2 stands among ~20K protein-coding genes

#5,698of 20,598
Most Researched84
#265of 5,509
Most Pathogenic Variants241 · top 5%
#11,112of 17,882
Most Constrained (LOEUF)1.09