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Gene

SLC24A5

solute carrier family 24 member 5

Summary

Cytogenetic location
15q21.1
Coordinates
Chromosome 15: 48,120,990–48,142,672 (GRCh38)
Exons
9 exons across 21.7 kb
Protein
500 amino acids
Inheritance
Autosomal recessive
Also known as
JSX, OCA6, NCKX5
MANE Select transcript
ENST00000341459.8NM_205850.3
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 report relevant to this gene

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 SLC24A5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where SLC24A5 sits. SLC24A5 and 6 genes near it on chromosome 15, from 47,631,831 to 48,631,830.Chromosome 1515q21.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.347.8 Mb48 Mb48.2 Mb48.4 Mb48.6 MbSEMA6D: 47,184,079–47,774,228, forward strandSEMA6DSLC24A5: 48,120,990–48,142,672, forward strandSLC24A5MYEF2: 48,134,632–48,178,375, reverse strandMYEF2CTXN2: 48,177,875–48,203,758, forward strandCTXN2SLC12A1: 48,178,392–48,304,078, forward strandSLC12A1DUT: 48,331,011–48,343,373, forward strandDUTFBN1: 48,408,016–48,645,791, reverse strandFBN1Diagram of SLC24A5: 9 exons on the forward strand of chromosome 15Exon 3: 1 known disease-causing siteExon 5: 2 known disease-causing sitesExon 9: 1 known disease-causing siteExon 1: 48,120,990–48,121,165, 176 basesExon 2: 48,121,857–48,122,036, 180 basesExon 3: 48,134,258–48,134,341, 84 basesExon 4: 48,134,435–48,134,538, 104 basesExon 5: 48,134,884–48,134,984, 101 basesExon 6: 48,136,683–48,136,963, 281 basesExon 7: 48,138,969–48,139,175, 207 basesExon 8: 48,141,113–48,141,214, 102 basesExon 9: 48,142,029–48,142,672, 644 bases1246895′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 1.9 kb of the gene's 21.7 kb; 1,503 of those bases code for the protein.

How a genome test reads SLC24A5

6

positions in SLC24A5 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 21.7 kb of SLC24A5, introns included, not only the 1.9 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.). SLC24A5 gene: solute carrier family 24 member 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc24a5

Vancouver

Dante Labs. SLC24A5 gene: solute carrier family 24 member 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc24a5

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