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0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC26A2
solute carrier family 26 member 2
Chromosome 5 · 5q32
NCBI Gene: 1836Ensembl: ENSG00000155850.10HGNC: HGNC:10994UniProt: P50443
84PubMed Papers
24Diseases
0Drugs
234Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-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 Associationsⓘ24
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 Variants234
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)Pathogenic
Atelosteogenesis type II|Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|not provided|SLC26A2-related disorder|Inborn genetic diseases|Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4|Sulfate transporter-related osteochondrodysplasia|Achondrogenesis, type IB|3MC syndrome 2|Connective tissue disorder
★★☆☆2026→ Residue 279
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)Pathogenic
Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|not provided|Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Sulfate transporter-related osteochondrodysplasia|SLC26A2-related disorder|3MC syndrome 2
★★☆☆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
Multiple epiphyseal dysplasia type 4|Diastrophic dysplasia|Achondrogenesis, type IB|not provided|Atelosteogenesis type II|Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4|3MC syndrome 2|Sulfate transporter-related osteochondrodysplasia|SLC26A2-related disorder|Connective tissue disorder
★★☆☆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
Achondrogenesis, type IB|Diastrophic dysplasia|not provided|Sulfate transporter-related osteochondrodysplasia|Atelosteogenesis type II|Achondrogenesis, type IB;Atelosteogenesis type II;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB;Atelosteogenesis type II;Diastrophic dysplasia
★★☆☆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
Multiple epiphyseal dysplasia type 4|Atelosteogenesis type II|Diastrophic dysplasia|Achondrogenesis, type IB|Sulfate transporter-related osteochondrodysplasia|Diastrophic dysplasia;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4;Atelosteogenesis type II|not provided
★★☆☆2026→ Residue 162
NM_000112.4(SLC26A2):c.-26+2T>CPathogenic
Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4|not provided|SLC26A2-related disorder|3MC syndrome 2|Achondrogenesis, type IB|Sulfate transporter-related osteochondrodysplasia|Atelosteogenesis type II
★★☆☆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.870del (p.Thr289_Trp290insTer)Pathogenic
Multiple epiphyseal dysplasia type 4|Achondrogenesis, type IB|Osteochondrodysplasia
★★☆☆2025→ Residue 289
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.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
Diastrophic dysplasia|Multiple epiphyseal dysplasia type 4|SLC26A2-related disorder|Achondrogenesis, type IB;Atelosteogenesis type II;Diastrophic dysplasia;Multiple epiphyseal dysplasia type 4|not provided|Achondrogenesis, type IB|Osteochondrodysplasia
★★☆☆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.1535C>A (p.Thr512Lys)Pathogenic
De la Chapelle dysplasia|Diastrophic dysplasia|Osteochondrodysplasia|Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB;Multiple epiphyseal dysplasia type 4
★★☆☆2025→ Residue 512
NM_000112.4(SLC26A2):c.136_137insTT (p.Asp46fs)Pathogenic
Multiple epiphyseal dysplasia type 4;Diastrophic dysplasia;Atelosteogenesis type II;Achondrogenesis, type IB
★★☆☆2025→ Residue 46
View on ClinVar ↗
Related Genes
PAPSS2Protein interaction95%PAPSS1Protein interaction93%SLC13A1Protein interaction91%MATN3Protein interaction91%SLC13A4Protein interaction89%COL9A2Protein interaction87%
Tissue Expression6 tissues
Brain
100%
Lung
62%
Bone Marrow
41%
Heart
33%
Ovary
29%
Liver
10%
Gene Interaction Network
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SLC26A2PAPSS2PAPSS1SLC13A1MATN3SLC13A4COL9A2
PROTEIN STRUCTURE
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PDB8TNX · 3.03 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.64–1.09]
RankingsWhere SLC26A2 stands among ~20K protein-coding genes
  • #5,698of 20,598
    Most Researched84
  • #273of 5,498
    Most Pathogenic Variants234 · top 5%
  • #11,112of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedSLC26A2
Sources retrieved0 papers
Response time—