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Gene

SLC16A2

solute carrier family 16 member 2

Summary

Cytogenetic location
Xq13.2
Coordinates
Chromosome X: 74,421,493–74,533,916 (GRCh38)
Exons
6 exons across 112.4 kb
Protein
539 amino acids
Inheritance
X-linked recessive
Also known as
XPCT, MCT8, MCT7, DXS128E
Previous symbols
DXS128, AHDS, MRX22
MANE Select transcript
ENST00000587091.6NM_006517.5
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

  • Thyroid Hormone Resistance, Transport & Metabolism Defects

    • Allan-Herndon-Dudley syndrome (MCT8 deficiency)X-linked recessive

      A disorder of thyroid hormone transport into the brain, causing severe developmental disability in boys with high T3 levels.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Tiratricol is approved in some regions to treat the effects of high thyroid hormone in the body.

Broader groupings

  • Intellectual Disability

    • One of 233 genes linked to it

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How SLC16A2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where SLC16A2 sits. SLC16A2 and 3 genes near it on chromosome X, from 73,977,705 to 74,977,704.Chromosome XXq13.2p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2874 Mb74.2 Mb74.4 Mb74.6 Mb74.8 MbZCCHC13: 74,304,180–74,305,034, forward strandZCCHC13SLC16A2: 74,421,493–74,533,916, forward strandSLC16A2RLIM: 74,582,976–74,614,646, reverse strandRLIMNEXMIF: 74,732,856–74,925,484, reverse strandNEXMIFDiagram of SLC16A2: 6 exons on the forward strand of chromosome XExon 1: 12 known disease-causing sitesExon 2: 6 known disease-causing sitesExon 3: 17 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 11 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 1: 74,421,493–74,422,067, 575 basesExon 2: 74,520,990–74,521,134, 145 basesExon 3: 74,524,359–74,524,809, 451 basesExon 4: 74,525,750–74,525,893, 144 basesExon 5: 74,529,213–74,529,441, 229 basesExon 6: 74,531,333–74,533,916, 2,584 bases12465′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 4.1 kb of the gene's 112.4 kb; 1,620 of those bases code for the protein.

How a genome test reads SLC16A2

58

positions in SLC16A2 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 112.4 kb of SLC16A2, introns included, not only the 4.1 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.). SLC16A2 gene: solute carrier family 16 member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc16a2

Vancouver

Dante Labs. SLC16A2 gene: solute carrier family 16 member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc16a2

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