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Gene

SLC25A3

solute carrier family 25 member 3

Summary

Cytogenetic location
12q23.1
Coordinates
Chromosome 12: 98,593,686–98,606,367 (GRCh38)
Exons
8 exons across 12.7 kb
Protein
361 amino acids
Inheritance
Autosomal dominant
Also known as
PiC, PTP
Previous symbols
PHC
MANE Select transcript
ENST00000552981.6NM_002635.4
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 report relevant to this gene

    • Hypertrophic Cardiomyopathy

      • Autosomal dominant

        One of 62 genes linked to it

        A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

        • 2 GenCC submitters rate it definitive or strong
        What knowing changes

        Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

    Inheritance

    Autosomal dominant
    One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

    How SLC25A3 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 12, with a bracket where SLC25A3 sits. SLC25A3 and 4 genes near it on chromosome 12, from 98,100,027 to 99,100,026.Chromosome 1212q23.1p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3398.2 Mb98.4 Mb98.6 Mb98.8 Mb99 MbTMPO: 98,515,483–98,550,351, forward strandTMPOSLC25A3: 98,593,686–98,606,367, forward strandSLC25A3IKBIP: 98,613,405–98,645,113, reverse strandIKBIPAPAF1: 98,645,149–98,735,433, forward strandAPAF1ANKS1B: 98,726,457–99,984,964, reverse strandANKS1BDiagram of SLC25A3: 8 exons on the forward strand of chromosome 12Exon 1: 98,593,686–98,593,740, 55 basesExon 2: 98,593,975–98,594,135, 161 basesExon 3: 98,595,727–98,595,848, 122 basesExon 4: 98,597,856–98,598,035, 180 basesExon 5: 98,598,522–98,598,703, 182 basesExon 6: 98,599,955–98,600,127, 173 basesExon 7: 98,601,171–98,601,281, 111 basesExon 8: 98,601,368–98,606,367, 5,000 bases123456785′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 6 kb of the gene's 12.7 kb; 1,086 of those bases code for the protein.

    How a genome test reads SLC25A3

    1

    position in SLC25A3 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 12.7 kb of SLC25A3, introns included, not only the 6 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.). SLC25A3 gene: solute carrier family 25 member 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc25a3

    Vancouver

    Dante Labs. SLC25A3 gene: solute carrier family 25 member 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc25a3

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