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Gene

BCKDK

branched chain keto acid dehydrogenase kinase

Summary

Cytogenetic location
16p11.2
Coordinates
Chromosome 16: 31,108,386–31,112,791 (GRCh38)
Exons
12 exons across 4.4 kb
Protein
412 amino acids
MANE Select transcript
ENST00000219794.11NM_005881.4
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 reports relevant to this gene

No Genome Test report reads BCKDK yet. The test sequences your whole genome, so your data includes it all the same.

How BCKDK is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 16, with a bracket where BCKDK sits. BCKDK and 40 genes near it on chromosome 16, from 30,610,589 to 31,610,588.Chromosome 1616p11.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.330.8 Mb31 Mb31.2 Mb31.4 Mb31.6 MbZNF689: 30,602,558–30,624,012, reverse strandZNF689PRR14: 30,650,696–30,656,427, forward strandPRR14FBRS: 30,658,431–30,670,810, forward strandFBRSSRCAP: 30,698,128–30,741,409, forward strand: 30,704,067–30,745,169, forward strandTMEM265: 30,737,880–30,745,196, forward strandPHKG2: 30,748,245–30,761,176, forward strandPHKG2CFAP119: 30,757,423–30,762,221, reverse strandCFAP119RNF40: 30,761,561–30,780,421, forward strandRNF40ZNF629: 30,778,456–30,787,214, reverse strandZNF629BCL7C: 30,818,695–30,894,302, reverse strandBCL7CCTF1: 30,896,607–30,903,547, forward strandCTF1FBXL19: 30,923,055–30,948,783, forward strandFBXL19ORAI3: 30,949,055–30,956,511, forward strandORAI3SETD1A: 30,957,294–30,984,664, forward strandSETD1AHSD3B7: 30,985,029–30,989,154, forward strandHSD3B7STX1B: 30,989,256–31,010,897, reverse strandSTX1BSTX4: 31,032,889–31,042,975, forward strandSTX4ZNF668: 31,059,772–31,074,240, reverse strandZNF646: 31,074,394–31,084,196, forward strandPRSS53: 31,083,437–31,089,628, reverse strand: 31,083,439–31,094,956, reverse strandVKORC1: 31,090,260–31,095,980, reverse strandVKORC1BCKDK: 31,108,386–31,112,791, forward strandBCKDKKAT8: 31,114,489–31,131,396, forward strandKAT8PRSS8: 31,131,433–31,135,727, reverse strandPRSS8PRSS36: 31,138,926–31,150,213, reverse strandFUS: 31,180,131–31,196,963, forward strandFUSPYCARD: 31,201,486–31,203,450, reverse strandPYCARDTRIM72: 31,214,017–31,231,537, forward strandTRIM72PYDC1: 31,215,962–31,217,162, reverse strandPYDC1ITGAM: 31,259,954–31,332,892, forward strandITGAMITGAX: 31,355,134–31,382,999, forward strandITGAXITGAD: 31,393,258–31,426,505, forward strandITGADCOX6A2: 31,427,731–31,428,433, reverse strandCOX6A2ZNF843: 31,432,593–31,444,323, reverse strandZNF843ARMC5: 31,458,080–31,467,172, forward strandARMC5TGFB1I1: 31,471,585–31,478,727, forward strandTGFB1I1SLC5A2: 31,483,002–31,490,860, forward strandRUSF1: 31,489,465–31,509,309, reverse strandRUSF1AHSP: 31,512,938–31,528,808, forward strandAHSPDiagram of BCKDK: 12 exons on the forward strand of chromosome 16Exon 2: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 11: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 1: 31,108,386–31,108,479, 94 basesExon 2: 31,109,047–31,109,418, 372 basesExon 3: 31,109,511–31,109,579, 69 basesExon 4: 31,109,673–31,109,783, 111 basesExon 5: 31,110,077–31,110,124, 48 basesExon 6: 31,110,205–31,110,324, 120 basesExon 7: 31,110,401–31,110,499, 99 basesExon 8: 31,110,688–31,110,761, 74 basesExon 9: 31,111,091–31,111,219, 129 basesExon 10: 31,111,300–31,111,389, 90 basesExon 11: 31,111,869–31,112,027, 159 basesExon 12: 31,112,121–31,112,791, 671 bases1234567891011125′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 2 kb of the gene's 4.4 kb; 1,239 of those bases code for the protein.

How a genome test reads BCKDK

7

positions in BCKDK 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 4.4 kb of BCKDK, introns included, not only the 2 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.
  • 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.). BCKDK gene: branched chain keto acid dehydrogenase kinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/bckdk

Vancouver

Dante Labs. BCKDK gene: branched chain keto acid dehydrogenase kinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bckdk

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