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Gene

PACS2

phosphofurin acidic cluster sorting protein 2

Summary

Cytogenetic location
14q32.33
Coordinates
Chromosome 14: 105,314,748–105,398,147 (GRCh38)
Exons
25 exons across 83.4 kb
Protein
904 amino acids
Also known as
KIAA0602
Previous symbols
PACS1L
MANE Select transcript
ENST00000447393.6NM_001100913.3
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

    • 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.

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

    How PACS2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 14, with a bracket where PACS2 sits. PACS2 and 18 genes near it on chromosome 14, from 104,856,448 to 105,856,447.Chromosome 1414q32.33p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.33105 Mb105.2 Mb105.4 Mb105.6 Mb105.8 MbCEP170B: 104,864,498–104,896,770, forward strandCEP170BPLD4: 104,924,713–104,937,784, forward strandPLD4AHNAK2: 104,937,244–104,978,374, reverse strandAHNAK2CLBA1: 104,985,758–105,010,482, forward strandCLBA1CDCA4: 105,008,532–105,033,828, reverse strandCDCA4GPR132: 105,048,658–105,065,940, reverse strandGPR132JAG2: 105,140,982–105,168,919, reverse strandJAG2NUDT14: 105,172,937–105,181,323, reverse strandNUDT14BRF1: 105,209,277–105,315,589, reverse strandBRF1BTBD6: 105,248,533–105,251,125, forward strandBTBD6PACS2: 105,314,748–105,398,147, forward strandPACS2TEX22: 105,398,525–105,450,106, forward strandTEX22MTA1: 105,419,808–105,470,737, forward strandMTA1CRIP2: 105,472,940–105,480,170, forward strandCRIP2CRIP1: 105,480,346–105,488,947, forward strandCRIP1: 105,487,199–105,492,267, forward strandTEDC1: 105,489,855–105,501,129, forward strandTEDC1TMEM121: 105,525,996–105,530,205, forward strandIGHM: 105,851,705–105,856,218, reverse strandIGHMDiagram of PACS2: 25 exons on the forward strand of chromosome 14Exon 6: 3 known disease-causing sitesExon 1: 105,314,748–105,315,037, 290 basesExon 2: 105,348,493–105,348,580, 88 basesExon 3: 105,352,378–105,352,467, 90 basesExon 4: 105,355,052–105,355,177, 126 basesExon 5: 105,367,213–105,367,375, 163 basesExon 6: 105,368,074–105,368,147, 74 basesExon 7: 105,368,459–105,368,539, 81 basesExon 8: 105,369,841–105,369,900, 60 basesExon 9: 105,376,768–105,376,925, 158 basesExon 10: 105,379,739–105,379,829, 91 basesExon 11: 105,380,080–105,380,154, 75 basesExon 12: 105,380,957–105,381,099, 143 basesExon 13: 105,381,914–105,382,058, 145 basesExon 14: 105,382,477–105,382,581, 105 basesExon 15: 105,382,807–105,382,913, 107 basesExon 16: 105,383,359–105,383,513, 155 basesExon 17: 105,384,353–105,384,463, 111 basesExon 18: 105,384,879–105,384,987, 109 basesExon 19: 105,385,685–105,385,717, 33 basesExon 20: 105,389,961–105,390,003, 43 basesExon 21: 105,391,207–105,391,249, 43 basesExon 22: 105,391,631–105,391,766, 136 basesExon 23: 105,392,619–105,392,845, 227 basesExon 24: 105,393,222–105,393,335, 114 basesExon 25: 105,394,554–105,398,147, 3,594 bases15101520255′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 6.4 kb of the gene's 83.4 kb; 2,715 of those bases code for the protein.

    How a genome test reads PACS2

    3

    positions in PACS2 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 83.4 kb of PACS2, introns included, not only the 6.4 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.). PACS2 gene: phosphofurin acidic cluster sorting protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/pacs2

    Vancouver

    Dante Labs. PACS2 gene: phosphofurin acidic cluster sorting protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pacs2

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