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Gene

SLC26A2

solute carrier family 26 member 2

Summary

Cytogenetic location
5q32
Coordinates
Chromosome 5: 149,960,758–149,987,400 (GRCh38)
Exons
3 exons across 26.6 kb
Protein
739 amino acids
Inheritance
Autosomal recessive
Also known as
DTDST
Previous symbols
DTD
MANE Select transcript
ENST00000286298.5NM_000112.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Achondrogenesis panel

    • Achondrogenesis

      Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

      • 1 GenCC submitter rates it definitive or strong

  • Epiphyseal and Spondyloepiphyseal Dysplasias

    • SLC26A2-related skeletal dysplasiaAutosomal recessive

      A spectrum of skeletal dysplasias caused by SLC26A2 variants, from recessive multiple epiphyseal dysplasia to diastrophic dysplasia and lethal forms.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Multiple epiphyseal dysplasia

      A group of conditions affecting the ends of the long bones, causing joint pain and stiffness and early osteoarthritis, caused by genes including COMP, MATN3, COL9A1, COL9A2, COL9A3 and SLC26A2.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How SLC26A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where SLC26A2 sits. SLC26A2 and 15 genes near it on chromosome 5, from 149,474,079 to 150,474,078.Chromosome 55q32p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3149.6 Mb149.8 Mb150 Mb150.2 Mb150.4 MbCSNK1A1: 149,492,982–149,551,577, reverse strandCSNK1A1ARHGEF37: 149,551,947–149,637,962, forward strandARHGEF37PPARGC1B: 149,729,994–149,855,022, forward strandPPARGC1BPDE6A: 149,857,953–149,945,287, reverse strandPDE6ASLC26A2: 149,960,758–149,987,400, forward strandSLC26A2TIGD6: 149,992,252–150,001,160, reverse strandTIGD6HMGXB3: 150,000,046–150,053,148, forward strandHMGXB3CSF1R: 150,053,291–150,113,372, reverse strandCSF1RPDGFRB: 150,113,839–150,186,363, reverse strandPDGFRBCDX1: 150,166,772–150,186,162, forward strandCDX1SLC6A7: 150,190,041–150,222,788, forward strandSLC6A7CAMK2A: 150,219,491–150,290,324, reverse strandCAMK2AARSI: 150,296,343–150,339,307, reverse strandARSITCOF1: 150,357,629–150,400,510, forward strandTCOF1CD74: 150,401,637–150,412,969, reverse strandCD74RPS14: 150,429,756–150,449,952, reverse strandRPS14Diagram of SLC26A2: 3 exons on the forward strand of chromosome 5Exon 2: 65 known disease-causing sitesExon 3: 134 known disease-causing sitesExon 1: 149,960,758–149,960,979, 222 basesExon 2: 149,977,628–149,978,351, 724 basesExon 3: 149,980,293–149,987,400, 7,108 bases1235′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8.1 kb of the gene's 26.6 kb; 2,220 of those bases code for the protein.

How a genome test reads SLC26A2

202

positions in SLC26A2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 26.6 kb of SLC26A2, introns included, not only the 8.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SLC26A2 gene: solute carrier family 26 member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc26a2

Vancouver

Dante Labs. SLC26A2 gene: solute carrier family 26 member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc26a2

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