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Gene

SBF1

SET binding factor 1

Summary

Cytogenetic location
22q13.33
Coordinates
Chromosome 22: 50,445,000–50,475,035 (GRCh38)
Exons
41 exons across 30 kb
Protein
1,893 amino acids
Also known as
MTMR5, DENND7A
MANE Select transcript
ENST00000380817.8NM_002972.4
Locus type
gene with protein product

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 moderate
        • 2 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 SBF1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 22, with a bracket where SBF1 sits. SBF1 and 32 genes near it on chromosome 22, from 49,960,018 to 50,960,017.Chromosome 2222q13.33p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3350 Mb50.2 Mb50.4 Mb50.6 Mb50.8 MbPIM3: 49,956,491–49,991,795, forward strandPIM3IL17REL: 49,991,811–50,012,765, reverse strandIL17RELTTLL8: 50,018,575–50,058,298, reverse strandTTLL8MLC1: 50,059,391–50,085,969, reverse strandMLC1MOV10L1: 50,090,002–50,161,690, forward strandMOV10L1PANX2: 50,170,458–50,180,295, forward strandPANX2TRABD: 50,184,717–50,199,600, forward strandTRABDSELENOO: 50,200,994–50,217,616, forward strandTUBGCP6: 50,217,621–50,245,033, reverse strandHDAC10: 50,245,183–50,251,407, reverse strandHDAC10MAPK12: 50,245,186–50,261,851, reverse strandMAPK12MAPK11: 50,263,703–50,270,767, reverse strandMAPK11PLXNB2: 50,274,976–50,307,695, reverse strandPLXNB2DENND6B: 50,308,989–50,327,661, reverse strandDENND6BPPP6R2: 50,330,659–50,445,090, forward strandPPP6R2SBF1: 50,445,000–50,475,035, reverse strandSBF1ADM2: 50,481,516–50,486,440, forward strandADM2MIOX: 50,486,784–50,490,648, forward strandMIOXLMF2: 50,502,947–50,507,751, reverse strandLMF2NCAPH2: 50,508,127–50,524,781, forward strandNCAPH2SCO2: 50,523,564–50,526,461, reverse strandTYMP: 50,525,752–50,530,326, reverse strandTYMPCIMAP1B: 50,529,710–50,532,590, reverse strandKLHDC7B: 50,545,899–50,551,023, forward strandKLHDC7BSYCE3: 50,551,109–50,562,954, reverse strandCPT1B: 50,567,624–50,578,681, reverse strandCPT1BCHKB-CPT1B: 50,568,869–50,582,965, reverse strandCHKB: 50,578,959–50,601,455, reverse strandCHKBMAPK8IP2: 50,600,659–50,613,981, forward strandARSA: 50,622,754–50,628,177, reverse strandARSASHANK3: 50,674,408–50,733,212, forward strandSHANK3ACR: 50,738,196–50,745,441, forward strandACRRABL2B: 50,767,491–50,783,760, reverse strandRABL2BDiagram of SBF1: 41 exons on the reverse strand of chromosome 22Exon 40: 1 known disease-causing siteExon 33: 1 known disease-causing siteExon 23: 1 known disease-causing siteExon 19: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 41: 50,445,000–50,447,240, 2,241 basesExon 40: 50,447,322–50,447,453, 132 basesExon 39: 50,447,522–50,447,609, 88 basesExon 38: 50,448,233–50,448,444, 212 basesExon 37: 50,448,543–50,448,650, 108 basesExon 36: 50,454,512–50,454,742, 231 basesExon 35: 50,454,814–50,454,944, 131 basesExon 34: 50,455,016–50,455,142, 127 basesExon 33: 50,455,224–50,455,409, 186 basesExon 32: 50,455,481–50,455,582, 102 basesExon 31: 50,456,216–50,456,395, 180 basesExon 30: 50,456,492–50,456,673, 182 basesExon 29: 50,457,034–50,457,111, 78 basesExon 28: 50,459,255–50,459,392, 138 basesExon 27: 50,459,470–50,459,666, 197 basesExon 26: 50,459,952–50,460,159, 208 basesExon 25: 50,460,272–50,460,408, 137 basesExon 24: 50,460,534–50,460,712, 179 basesExon 23: 50,461,159–50,461,286, 128 basesExon 22: 50,461,523–50,461,718, 196 basesExon 21: 50,461,796–50,461,869, 74 basesExon 20: 50,461,947–50,462,119, 173 basesExon 19: 50,462,205–50,462,473, 269 basesExon 18: 50,462,559–50,462,717, 159 basesExon 17: 50,462,870–50,462,938, 69 basesExon 16: 50,463,283–50,463,432, 150 basesExon 15: 50,464,329–50,464,441, 113 basesExon 14: 50,464,534–50,464,738, 205 basesExon 13: 50,464,819–50,464,917, 99 basesExon 12: 50,465,001–50,465,129, 129 basesExon 11: 50,465,215–50,465,328, 114 basesExon 10: 50,465,763–50,465,840, 78 basesExon 9: 50,465,961–50,466,074, 114 basesExon 8: 50,466,150–50,466,258, 109 basesExon 7: 50,466,350–50,466,482, 133 basesExon 6: 50,466,605–50,466,710, 106 basesExon 5: 50,467,338–50,467,448, 111 basesExon 4: 50,467,532–50,467,690, 159 basesExon 3: 50,467,786–50,467,923, 138 basesExon 2: 50,468,376–50,468,461, 86 basesExon 1: 50,474,786–50,475,035, 250 bases4140353025201510515′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 8 kb of the gene's 30 kb; 5,682 of those bases code for the protein.

    How a genome test reads SBF1

    8

    positions in SBF1 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 30 kb of SBF1, introns included, not only the 8 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.). SBF1 gene: SET binding factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/sbf1

    Vancouver

    Dante Labs. SBF1 gene: SET binding factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sbf1

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