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Gene

SLC45A2

solute carrier family 45 member 2

Summary

Cytogenetic location
5p13.2
Coordinates
Chromosome 5: 33,944,623–33,984,693 (GRCh38)
Exons
7 exons across 40.1 kb
Protein
530 amino acids
Inheritance
Autosomal recessive
Also known as
AIM-1, OCA4
Previous symbols
MATP
MANE Select transcript
ENST00000296589.9NM_016180.5
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 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 SLC45A2 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 SLC45A2 sits. SLC45A2 and 8 genes near it on chromosome 5, from 33,464,658 to 34,464,657.Chromosome 55p13.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.333.6 Mb33.8 Mb34 Mb34.2 Mb34.4 MbTARS1: 33,440,696–33,471,929, forward strandTARS1ADAMTS12: 33,523,535–33,892,113, reverse strandADAMTS12RXFP3: 33,936,386–33,938,918, forward strandRXFP3SLC45A2: 33,944,623–33,984,693, reverse strandSLC45A2AMACR: 33,986,165–34,010,219, reverse strandAMACRC1QTNF3-AMACR: 33,987,174–34,124,528, reverse strand: 33,997,007–34,008,084, reverse strandC1QTNF3: 34,017,858–34,043,238, reverse strandC1QTNF3: 34,190,156–34,193,653, forward strandDiagram of SLC45A2: 7 exons on the reverse strand of chromosome 5Exon 7: 6 known disease-causing sitesExon 6: 9 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 13 known disease-causing sitesExon 7: 33,944,623–33,944,872, 250 basesExon 6: 33,947,163–33,947,374, 212 basesExon 5: 33,951,554–33,951,677, 124 basesExon 4: 33,954,361–33,954,504, 144 basesExon 3: 33,963,691–33,964,016, 326 basesExon 2: 33,982,236–33,982,412, 177 basesExon 1: 33,984,199–33,984,693, 495 bases76543215′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 1.7 kb of the gene's 40.1 kb; 1,593 of those bases code for the protein.

How a genome test reads SLC45A2

58

positions in SLC45A2 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 40.1 kb of SLC45A2, introns included, not only the 1.7 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.). SLC45A2 gene: solute carrier family 45 member 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc45a2

Vancouver

Dante Labs. SLC45A2 gene: solute carrier family 45 member 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc45a2

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