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Gene

SLC25A12

solute carrier family 25 member 12

Summary

Cytogenetic location
2q31.1
Coordinates
Chromosome 2: 171,783,405–171,894,244 (GRCh38)
Exons
18 exons across 110.8 kb
Protein
678 amino acids
Also known as
Aralar, aralar1, AGC1
MANE Select transcript
ENST00000422440.7NM_003705.5
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

    • Epilepsy (Full Panel)

      • Epilepsy

        One of 171 genes linked to it

        A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

        • 2 GenCC submitters rate it definitive or strong

    How SLC25A12 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 2, with a bracket where SLC25A12 sits. SLC25A12 and 9 genes near it on chromosome 2, from 171,338,825 to 172,338,824.Chromosome 22q31.1p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3171.4 Mb171.6 Mb171.8 Mb172 Mb172.2 MbMETTL8: 171,315,746–171,434,802, reverse strandMETTL8DCAF17: 171,434,217–171,491,318, forward strandDCAF17CYBRD1: 171,522,247–171,558,133, forward strandCYBRD1DYNC1I2: 171,687,409–171,750,179, forward strandDYNC1I2SLC25A12: 171,783,405–171,894,244, reverse strandSLC25A12HAT1: 171,922,404–171,986,773, forward strandHAT1METAP1D: 171,999,935–172,083,989, forward strandMETAP1DDLX1: 172,084,469–172,089,677, forward strandDLX1DLX2: 172,099,438–172,102,909, reverse strandDLX2ITGA6: 172,234,216–172,506,565, forward strandITGA6Diagram of SLC25A12: 18 exons on the reverse strand of chromosome 2Exon 17: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 11: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 18: 171,783,405–171,785,475, 2,071 basesExon 17: 171,787,571–171,787,661, 91 basesExon 16: 171,787,789–171,787,947, 159 basesExon 15: 171,791,451–171,791,589, 139 basesExon 14: 171,793,627–171,793,767, 141 basesExon 13: 171,809,606–171,809,686, 81 basesExon 12: 171,810,224–171,810,276, 53 basesExon 11: 171,813,339–171,813,497, 159 basesExon 10: 171,815,121–171,815,202, 82 basesExon 9: 171,826,798–171,826,882, 85 basesExon 8: 171,833,963–171,834,056, 94 basesExon 7: 171,834,727–171,834,865, 139 basesExon 6: 171,837,121–171,837,267, 147 basesExon 5: 171,844,369–171,844,508, 140 basesExon 4: 171,855,834–171,855,949, 116 basesExon 3: 171,868,681–171,868,823, 143 basesExon 2: 171,893,205–171,893,258, 54 basesExon 1: 171,894,203–171,894,244, 42 bases181510515′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 3.9 kb of the gene's 110.8 kb; 2,037 of those bases code for the protein.

    How a genome test reads SLC25A12

    8

    positions in SLC25A12 where ClinVar classes a change as pathogenic or likely pathogenic

    1 of them (13%) falls in a region short reads find hard.

    • Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

    A whole genome covers all 110.8 kb of SLC25A12, introns included, not only the 3.9 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.). SLC25A12 gene: solute carrier family 25 member 12. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc25a12

    Vancouver

    Dante Labs. SLC25A12 gene: solute carrier family 25 member 12 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc25a12

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