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Gene

SNF8

SNF8 subunit of ESCRT-II

Summary

Cytogenetic location
17q21.32
Coordinates
Chromosome 17: 48,929,316–48,944,842 (GRCh38)
Exons
8 exons across 15.5 kb
Protein
258 amino acids
Also known as
EAP30, VPS22, Dot3
MANE Select transcript
ENST00000502492.6NM_007241.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

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.

        • 1 GenCC submitter rates it definitive or strong

    How SNF8 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Stretches short reads find hard
    Chromosome 17, with a bracket where SNF8 sits. SNF8 and 24 genes near it on chromosome 17, from 48,437,079 to 49,437,078.Chromosome 1717q21.32p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.348.6 Mb48.8 Mb49 Mb49.2 Mb49.4 MbHOXB1: 48,528,526–48,531,011, reverse strandHOXB1HOXB2: 48,540,894–48,545,115, reverse strandHOXB2HOXB3: 48,548,870–48,604,912, reverse strandHOXB4: 48,575,507–48,578,429, reverse strandHOXB5: 48,591,257–48,594,179, reverse strandHOXB6: 48,595,525–48,605,011, reverse strandHOXB6HOXB7: 48,607,222–48,633,572, reverse strandHOXB7HOXB8: 48,611,377–48,618,003, reverse strandHOXB8HOXB9: 48,621,156–48,626,576, reverse strandHOXB9PRAC2: 48,720,813–48,724,767, forward strandPRAC2PRAC1: 48,721,719–48,723,082, reverse strandPRAC1HOXB13: 48,724,750–48,729,076, reverse strandHOXB13TTLL6: 48,762,234–48,817,229, reverse strandTTLL6CALCOCO2: 48,830,971–48,872,910, forward strandCALCOCO2ATP5MC1: 48,892,765–48,895,875, forward strandATP5MC1UBE2Z: 48,908,368–48,929,062, forward strandUBE2ZSNF8: 48,929,316–48,944,842, reverse strandSNF8GIP: 48,958,554–48,968,596, reverse strandGIPIGF2BP1: 48,997,225–49,056,148, forward strandIGF2BP1B4GALNT2: 49,132,460–49,178,647, forward strandB4GALNT2GNGT2: 49,202,791–49,210,610, reverse strandGNGT2ABI3: 49,210,388–49,224,184, forward strandABI3PHOSPHO1: 49,223,346–49,230,831, reverse strandPHOSPHO1ZNF652: 49,289,206–49,362,473, reverse strandZNF652PHB1: 49,404,009–49,436,245, reverse strandPHB1Diagram of SNF8: 8 exons on the reverse strand of chromosome 17Exon 8: 48,929,316–48,930,612, 1,297 basesExon 7: 48,931,643–48,931,717, 75 basesExon 6: 48,933,205–48,933,346, 142 basesExon 5: 48,936,170–48,936,242, 73 basesExon 4: 48,937,020–48,937,124, 105 basesExon 3: 48,940,924–48,941,062, 139 basesExon 2: 48,943,925–48,943,975, 51 basesExon 1: 48,944,681–48,944,842, 162 bases876543215′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 2 kb of the gene's 15.5 kb; 777 of those bases code for the protein.

    Genes linked to the same conditions

    Traits linked to SNF8

    The Human Phenotype Ontology lists these as features of the rare conditions SNF8 can cause. Each trait's page lists the other genes linked to it.

    External links

    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 2026-10-17: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.17-8666dff2.

    Cite this page

    APA

    Dante Labs. (n.d.). SNF8 gene: SNF8 subunit of ESCRT-II. Retrieved 17 October 2026, from https://dantelabs.com/genes/snf8

    Vancouver

    Dante Labs. SNF8 gene: SNF8 subunit of ESCRT-II [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/snf8

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