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Gene

SNX14

sorting nexin 14

Summary

Cytogenetic location
6q14.3
Coordinates
Chromosome 6: 85,505,496–85,593,858 (GRCh38)
Exons
29 exons across 88.4 kb
Protein
946 amino acids
Inheritance
Autosomal recessive
Also known as
RGS-PX2
MANE Select transcript
ENST00000314673.8NM_153816.6
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

    • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

      • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

        One of 57 genes linked to it

        A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

        • ClinGen rates the link definitive
        • 5 GenCC submitters rate it definitive or strong
        What knowing changes

        Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

    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 SNX14 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 6, with a bracket where SNX14 sits. SNX14 and 3 genes near it on chromosome 6, from 85,049,677 to 86,049,676.Chromosome 66q14.3p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q2785.2 Mb85.4 Mb85.6 Mb85.8 Mb86 MbNT5E: 85,449,584–85,547,684, forward strandNT5E: 85,504,776–85,678,733, reverse strandSNX14: 85,505,496–85,593,858, reverse strandSNX14SYNCRIP: 85,607,390–85,644,063, reverse strandSYNCRIPDiagram of SNX14: 29 exons on the reverse strand of chromosome 6Exon 27: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 18: 3 known disease-causing sitesExon 14: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 2 known disease-causing sitesExon 29: 85,505,496–85,506,005, 510 basesExon 28: 85,507,233–85,507,289, 57 basesExon 27: 85,507,968–85,508,059, 92 basesExon 26: 85,513,800–85,513,895, 96 basesExon 25: 85,514,070–85,514,234, 165 basesExon 24: 85,514,506–85,514,629, 124 basesExon 23: 85,517,756–85,517,875, 120 basesExon 22: 85,518,008–85,518,048, 41 basesExon 21: 85,526,126–85,526,237, 112 basesExon 20: 85,528,262–85,528,362, 101 basesExon 19: 85,530,192–85,530,275, 84 basesExon 18: 85,533,599–85,533,800, 202 basesExon 17: 85,536,792–85,536,924, 133 basesExon 16: 85,538,838–85,538,864, 27 basesExon 15: 85,541,985–85,542,043, 59 basesExon 14: 85,543,182–85,543,306, 125 basesExon 13: 85,543,605–85,543,760, 156 basesExon 12: 85,547,112–85,547,226, 115 basesExon 11: 85,547,317–85,547,397, 81 basesExon 10: 85,547,506–85,547,550, 45 basesExon 9: 85,548,301–85,548,376, 76 basesExon 8: 85,549,723–85,549,879, 157 basesExon 7: 85,557,976–85,558,060, 85 basesExon 6: 85,565,332–85,565,419, 88 basesExon 5: 85,567,534–85,567,577, 44 basesExon 4: 85,572,137–85,572,215, 79 basesExon 3: 85,572,298–85,572,374, 77 basesExon 2: 85,574,258–85,574,378, 121 basesExon 1: 85,593,579–85,593,858, 280 bases2925201510515′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 3.5 kb of the gene's 88.4 kb; 2,841 of those bases code for the protein.

    How a genome test reads SNX14

    26

    positions in SNX14 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 88.4 kb of SNX14, introns included, not only the 3.5 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.). SNX14 gene: sorting nexin 14. Retrieved 17 October 2026, from https://dantelabs.com/genes/snx14

    Vancouver

    Dante Labs. SNX14 gene: sorting nexin 14 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/snx14

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