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Gene

KBTBD13

kelch repeat and BTB domain containing 13

Summary

Cytogenetic location
15q22.31
Coordinates
Chromosome 15: 65,076,746–65,079,948 (GRCh38)
Exons
1 exon across 3.2 kb
Protein
458 amino acids
Also known as
hCG_1645727, NEM6
MANE Select transcript
ENST00000432196.5NM_001101362.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Congenital Myopathies

    • Nemaline myopathy

      A congenital myopathy defined by rod-shaped structures in muscle fibers, most often caused by NEB or ACTA1 variants.

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

How KBTBD13 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 15, with a bracket where KBTBD13 sits. KBTBD13 and 20 genes near it on chromosome 15, from 64,578,347 to 65,578,346.Chromosome 1515q22.31p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.364.6 Mb64.8 Mb65 Mb65.2 Mb65.4 MbZNF609: 64,460,549–64,686,068, forward strandZNF609OAZ2: 64,686,833–64,703,281, reverse strandOAZ2RBPMS2: 64,739,886–64,775,860, reverse strandRBPMS2PIF1: 64,815,629–64,825,677, reverse strandPIF1PLEKHO2: 64,839,231–64,868,002, forward strandPLEKHO2: 64,841,883–64,930,920, forward strandANKDD1A: 64,911,853–64,979,845, forward strandANKDD1ASPG21: 64,954,566–64,990,312, reverse strandSPG21MTFMT: 64,990,829–65,029,652, reverse strandMTFMTSLC51B: 65,045,132–65,053,397, forward strandSLC51BRASL12: 65,053,337–65,076,690, reverse strandRASL12KBTBD13: 65,076,746–65,079,948, forward strandKBTBD13UBAP1L: 65,091,766–65,115,200, reverse strandUBAP1LPDCD7: 65,117,379–65,133,836, reverse strandPDCD7CLPX: 65,148,219–65,185,643, reverse strandCLPXCILP: 65,194,760–65,211,491, reverse strandCILPPARP16: 65,231,398–65,300,618, reverse strandPARP16IGDCC3: 65,327,127–65,378,087, reverse strandIGDCC3IGDCC4: 65,381,479–65,423,083, reverse strandIGDCC4DPP8: 65,442,463–65,517,757, reverse strandDPP8HACD3: 65,530,418–65,578,353, forward strandHACD3Diagram of KBTBD13: one exon on the forward strand of chromosome 15Exon 1: 2 known disease-causing sitesExon 1: 65,076,746–65,079,948, 3,203 bases15′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 3.2 kb of the gene's 3.2 kb; 1,377 of those bases code for the protein.

How a genome test reads KBTBD13

2

positions in KBTBD13 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 3.2 kb of KBTBD13, introns included, not only the 3.2 kb of exons.

Genes linked to the same conditions

Traits linked to KBTBD13

The Human Phenotype Ontology lists these as features of the rare conditions KBTBD13 can cause. Each trait's page lists the other genes linked to it.

External links

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.). KBTBD13 gene: kelch repeat and BTB domain containing 13. Retrieved 17 October 2026, from https://dantelabs.com/genes/kbtbd13

Vancouver

Dante Labs. KBTBD13 gene: kelch repeat and BTB domain containing 13 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kbtbd13

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