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Gene

SBF2

SET binding factor 2

Summary

Cytogenetic location
11p15.4
Coordinates
Chromosome 11: 9,778,668–10,294,219 (GRCh38)
Exons
40 exons across 515.6 kb
Protein
1,849 amino acids
Also known as
KIAA1766, MTMR13, DENND7B
Previous symbols
CMT4B2
MANE Select transcript
ENST00000256190.13NM_030962.4
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

    • Charcot-Marie-Tooth Disease

      • One of 62 genes linked to it

        A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

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

        Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

    How SBF2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 11, with a bracket where SBF2 sits. SBF2 and 13 genes near it on chromosome 11, from 9,263,116 to 10,809,771.Chromosome 1111p15.4p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q259.4 Mb9.6 Mb9.8 Mb10 Mb10.2 Mb10.4 Mb10.6 Mb10.8 MbDENND5A: 9,138,825–9,265,959, reverse strandDENND5ATMEM41B: 9,280,654–9,314,687, reverse strandTMEM41BIPO7: 9,384,604–9,448,127, forward strandIPO7ZNF143: 9,460,319–9,529,155, forward strandZNF143WEE1: 9,573,540–9,593,457, forward strandWEE1SWAP70: 9,664,058–9,753,298, forward strandSWAP70SBF2: 9,778,668–10,294,219, reverse strandSBF2ADM: 10,303,008–10,307,397, forward strandADMAMPD3: 10,308,162–10,507,877, forward strandAMPD3RNF141: 10,511,522–10,541,334, reverse strandRNF141LYVE1: 10,555,420–10,611,689, reverse strandLYVE1IRAG1: 10,573,077–10,693,988, reverse strandIRAG1CTR9: 10,750,962–10,801,625, forward strandCTR9EIF4G2: 10,796,817–10,808,947, reverse strandEIF4G2Diagram of SBF2: 40 exons on the reverse strand of chromosome 11Exon 38: 2 known disease-causing sitesExon 37: 2 known disease-causing sitesExon 35: 1 known disease-causing siteExon 33: 1 known disease-causing siteExon 32: 4 known disease-causing sitesExon 31: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 29: 1 known disease-causing siteExon 27: 2 known disease-causing sitesExon 26: 2 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 20: 1 known disease-causing siteExon 19: 3 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 16: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 40: 9,778,668–9,780,516, 1,849 basesExon 39: 9,781,507–9,781,638, 132 basesExon 38: 9,784,351–9,784,438, 88 basesExon 37: 9,785,125–9,785,318, 194 basesExon 36: 9,787,634–9,787,738, 105 basesExon 35: 9,789,109–9,789,342, 234 basesExon 34: 9,790,556–9,790,683, 128 basesExon 33: 9,795,831–9,795,957, 127 basesExon 32: 9,808,000–9,808,185, 186 basesExon 31: 9,808,901–9,809,002, 102 basesExon 30: 9,812,532–9,812,708, 177 basesExon 29: 9,816,840–9,817,024, 185 basesExon 28: 9,829,356–9,829,496, 141 basesExon 27: 9,832,224–9,832,420, 197 basesExon 26: 9,839,498–9,839,696, 199 basesExon 25: 9,842,625–9,842,770, 146 basesExon 24: 9,845,565–9,845,740, 176 basesExon 23: 9,846,956–9,847,083, 128 basesExon 22: 9,850,023–9,850,218, 196 basesExon 21: 9,852,676–9,852,749, 74 basesExon 20: 9,853,540–9,853,712, 173 basesExon 19: 9,856,458–9,856,720, 263 basesExon 18: 9,858,226–9,858,396, 171 basesExon 17: 9,895,943–9,896,011, 69 basesExon 16: 9,961,957–9,962,106, 150 basesExon 15: 9,963,773–9,963,882, 110 basesExon 14: 9,968,341–9,968,545, 205 basesExon 13: 9,989,497–9,989,595, 99 basesExon 12: 9,992,415–9,992,543, 129 basesExon 11: 9,992,990–9,993,103, 114 basesExon 10: 9,993,921–9,993,998, 78 basesExon 9: 9,998,266–9,998,379, 114 basesExon 8: 10,000,914–10,001,022, 109 basesExon 7: 10,002,557–10,002,689, 133 basesExon 6: 10,028,452–10,028,557, 106 basesExon 5: 10,029,765–10,029,875, 111 basesExon 4: 10,031,048–10,031,170, 123 basesExon 3: 10,042,844–10,042,981, 138 basesExon 2: 10,193,902–10,193,987, 86 basesExon 1: 10,294,015–10,294,219, 205 bases4030201015′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 7.5 kb of the gene's 515.6 kb; 5,550 of those bases code for the protein.

    How a genome test reads SBF2

    74

    positions in SBF2 where ClinVar classes a change as pathogenic or likely pathogenic

    2 of them (2.7%) fall in regions short reads find hard.

    • Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

    A whole genome covers all 515.6 kb of SBF2, introns included, not only the 7.5 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.). SBF2 gene: SET binding factor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/sbf2

    Vancouver

    Dante Labs. SBF2 gene: SET binding factor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sbf2

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