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Gene

RHOBTB2

Rho related BTB domain containing 2

Summary

Cytogenetic location
8p21.3
Coordinates
Chromosome 8: 22,999,548–23,020,199 (GRCh38)
Exons
10 exons across 20.7 kb
Protein
727 amino acids
Also known as
KIAA0717, DBC2
MANE Select transcript
ENST00000251822.7NM_015178.3
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.

        • 3 GenCC submitters rate it definitive or strong

    How RHOBTB2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 8, with a bracket where RHOBTB2 sits. RHOBTB2 and 18 genes near it on chromosome 8, from 22,509,874 to 23,509,873.Chromosome 88p21.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.322.6 Mb22.8 Mb23 Mb23.2 Mb23.4 MbPPP3CC: 22,440,746–22,544,727, forward strandPPP3CCSORBS3: 22,544,986–22,575,788, forward strandPDLIM2: 22,578,058–22,598,025, forward strand: 22,589,274–22,602,084, forward strandC8orf58: 22,599,588–22,604,271, forward strandC8orf58CCAR2: 22,604,629–22,620,964, forward strandCCAR2BIN3: 22,610,290–22,669,148, reverse strandBIN3EGR3: 22,687,659–22,693,480, reverse strandEGR3PEBP4: 22,710,102–23,000,000, reverse strandPEBP4RHOBTB2: 22,999,548–23,020,199, forward strandRHOBTB2TNFRSF10B: 23,020,133–23,069,121, reverse strandTNFRSF10B: 23,084,403–23,115,536, forward strandTNFRSF10C: 23,102,921–23,122,014, forward strandTNFRSF10CTNFRSF10D: 23,135,588–23,164,030, reverse strandTNFRSF10DTNFRSF10A: 23,183,123–23,225,145, reverse strandTNFRSF10ACHMP7: 23,243,630–23,266,156, forward strandCHMP7R3HCC1: 23,270,120–23,296,279, forward strandR3HCC1LOXL2: 23,296,897–23,425,328, reverse strandLOXL2ENTPD4: 23,385,783–23,457,722, reverse strandENTPD4Diagram of RHOBTB2: 10 exons on the forward strand of chromosome 8Exon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 8 known disease-causing sitesExon 1: 22,999,548–23,000,105, 558 basesExon 2: 23,004,425–23,004,626, 202 basesExon 3: 23,005,372–23,005,475, 104 basesExon 4: 23,005,960–23,006,145, 186 basesExon 5: 23,006,728–23,007,746, 1,019 basesExon 6: 23,007,993–23,008,111, 119 basesExon 7: 23,010,538–23,010,688, 151 basesExon 8: 23,014,690–23,014,778, 89 basesExon 9: 23,015,638–23,015,743, 106 basesExon 10: 23,017,252–23,020,199, 2,948 bases123456789105′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 5.5 kb of the gene's 20.7 kb; 2,184 of those bases code for the protein.

    How a genome test reads RHOBTB2

    11

    positions in RHOBTB2 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 20.7 kb of RHOBTB2, introns included, not only the 5.5 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.). RHOBTB2 gene: Rho related BTB domain containing 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/rhobtb2

    Vancouver

    Dante Labs. RHOBTB2 gene: Rho related BTB domain containing 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rhobtb2

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