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Gene

SETBP1

SET binding protein 1

Summary

Cytogenetic location
18q12.3
Coordinates
Chromosome 18: 44,680,888–45,068,510 (GRCh38)
Exons
6 exons across 387.6 kb
Protein
1,596 amino acids
Also known as
SEB, KIAA0437
MANE Select transcript
ENST00000649279.2NM_015559.3
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

    • Intellectual Disability

      • One of 233 genes linked to it

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

    How SETBP1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 18, with a bracket where SETBP1 sits. SETBP1 and 1 gene near it on chromosome 18, from 44,293,265 to 45,456,133.Chromosome 1818q12.3p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2344.4 Mb44.6 Mb44.8 Mb45 Mb45.2 Mb45.4 MbSETBP1: 44,680,888–45,068,510, forward strandSETBP1SLC14A2: 45,212,995–45,683,688, forward strandSLC14A2Diagram of SETBP1: 6 exons on the forward strand of chromosome 18Exon 2: 3 known disease-causing sitesExon 4: 47 known disease-causing sitesExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 1: 44,680,888–44,681,021, 134 basesExon 2: 44,701,175–44,701,832, 658 basesExon 3: 44,869,230–44,869,283, 54 basesExon 4: 44,949,881–44,953,340, 3,460 basesExon 5: 45,038,485–45,038,655, 171 basesExon 6: 45,063,079–45,068,510, 5,432 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 9.9 kb of the gene's 387.6 kb; 4,791 of those bases code for the protein.

    How a genome test reads SETBP1

    54

    positions in SETBP1 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 387.6 kb of SETBP1, introns included, not only the 9.9 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.). SETBP1 gene: SET binding protein 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/setbp1

    Vancouver

    Dante Labs. SETBP1 gene: SET binding protein 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/setbp1

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