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Gene

GOSR2

golgi SNAP receptor complex member 2

Summary

Cytogenetic location
17q21.32
Coordinates
Chromosome 17: 46,923,160–46,942,020 (GRCh38)
Exons
6 exons across 18.9 kb
Protein
212 amino acids
Also known as
GS27, Bos1
MANE Select transcript
ENST00000640051.2NM_004287.5
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.

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

    How GOSR2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 17, with a bracket where GOSR2 sits. GOSR2 and 12 genes near it on chromosome 17, from 46,432,590 to 47,432,589.Chromosome 1717q21.32p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.346.6 Mb46.8 Mb47 Mb47.2 Mb47.4 MbARL17A: 46,431,431–46,579,725, reverse strandARL17ALRRC37A2: 46,511,508–46,556,910, forward strandLRRC37A2NSF: 46,590,661–46,757,679, forward strandNSFWNT3: 46,762,493–46,833,154, reverse strandWNT3WNT9B: 46,833,201–46,886,730, forward strandWNT9B: 46,923,133–47,049,932, forward strandGOSR2: 46,923,160–46,942,020, forward strandGOSR2RPRML: 46,978,156–46,979,253, reverse strandRPRMLCDC27: 47,117,703–47,189,422, reverse strandCDC27MYL4: 47,188,903–47,227,760, forward strandMYL4ITGB3: 47,253,649–47,323,218, forward strandITGB3: 47,253,897–47,344,292, forward strandEFCAB13: 47,323,290–47,441,312, forward strandEFCAB13Diagram of GOSR2: 6 exons on the forward strand of chromosome 17Exon 1: 3 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 1: 46,923,160–46,923,221, 62 basesExon 2: 46,929,520–46,929,584, 65 basesExon 3: 46,931,099–46,931,207, 109 basesExon 4: 46,932,067–46,932,199, 133 basesExon 5: 46,935,029–46,935,169, 141 basesExon 6: 46,938,599–46,942,020, 3,422 bases1234565′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 18.9 kb; 639 of those bases code for the protein.

    How a genome test reads GOSR2

    22

    positions in GOSR2 where ClinVar classes a change as pathogenic or likely pathogenic

    14 of them (64%) fall in regions short reads find hard.

    • Segmental duplications (14 sites)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 18.9 kb of GOSR2, 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.). GOSR2 gene: golgi SNAP receptor complex member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/gosr2

    Vancouver

    Dante Labs. GOSR2 gene: golgi SNAP receptor complex member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gosr2

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