BCKDK (branched chain keto acid dehydrogenase kinase) - Rat Genome Database
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Gene: BCKDK (branched chain keto acid dehydrogenase kinase) Homo sapiens
Analyze
Symbol: BCKDK
Name: branched chain keto acid dehydrogenase kinase
RGD ID: 69214
HGNC Page HGNC
Description: Predicted to have ATP binding activity and protein serine/threonine kinase activity. Predicted to be involved in several processes, including branched-chain amino acid catabolic process; glucose homeostasis; and negative regulation of pyruvate dehydrogenase activity. Localizes to mitochondrion. Implicated in branched-chain keto acid dehydrogenase kinase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 3-methyl-2-oxobutanoate dehydrogenase [lipoamide] kinase, mitochondrial; [3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; BCKD-kinase; BCKDHKIN; BCKDKD; BDK; branched chain alpha-ketoacid dehydrogenase kinase; branched chain ketoacid dehydrogenase kinase; branched-chain alpha-ketoacid dehydrogenase kinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1631,106,107 - 31,112,791 (+)EnsemblGRCh38hg38GRCh38
GRCh381631,108,381 - 31,117,651 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371631,119,615 - 31,124,112 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,027,223 - 31,031,422 (+)NCBINCBI36hg18NCBI36
Build 341631,027,221 - 31,031,420NCBI
Celera1629,173,915 - 29,178,365 (-)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1628,680,789 - 28,685,286 (+)NCBIHuRef
CHM1_11632,437,335 - 32,441,832 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1377677   PMID:1889817   PMID:2403034   PMID:8889548   PMID:11839747   PMID:12023963   PMID:12477932   PMID:15302860   PMID:15489334   PMID:15604093   PMID:17353931   PMID:18985028  
PMID:19913121   PMID:20628086   PMID:20811636   PMID:20833797   PMID:20877624   PMID:21832049   PMID:21873635   PMID:21988832   PMID:24449431   PMID:25064009   PMID:26186194   PMID:26972000  
PMID:27107014   PMID:27432908   PMID:27499296   PMID:27503909   PMID:27773658   PMID:27880917   PMID:28319085   PMID:28501528   PMID:28514442   PMID:28718761   PMID:29509190   PMID:29540532  
PMID:30021884   PMID:30196744   PMID:30581152   PMID:30833792   PMID:30880162   PMID:31527615   PMID:31540324   PMID:32238881   PMID:32296183   PMID:32353859   PMID:32877691   PMID:33060197  


Genomics

Comparative Map Data
BCKDK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1631,106,107 - 31,112,791 (+)EnsemblGRCh38hg38GRCh38
GRCh381631,108,381 - 31,117,651 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371631,119,615 - 31,124,112 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,027,223 - 31,031,422 (+)NCBINCBI36hg18NCBI36
Build 341631,027,221 - 31,031,420NCBI
Celera1629,173,915 - 29,178,365 (-)NCBI
Cytogenetic Map16p11.2NCBI
HuRef1628,680,789 - 28,685,286 (+)NCBIHuRef
CHM1_11632,437,335 - 32,441,832 (+)NCBICHM1_1
Bckdk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,503,245 - 127,508,836 (+)NCBIGRCm39mm39
GRCm387127,904,073 - 127,909,664 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7127,904,082 - 127,910,221 (+)EnsemblGRCm38mm10GRCm38
MGSCv377135,047,587 - 135,053,178 (+)NCBIGRCm37mm9NCBIm37
MGSCv367127,695,221 - 127,700,812 (+)NCBImm8
Celera7127,739,285 - 127,744,876 (+)NCBICelera
Cytogenetic Map7F3NCBI
Bckdk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01199,351,628 - 199,356,299 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1199,351,628 - 199,356,881 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01206,374,221 - 206,378,892 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41187,189,665 - 187,194,336 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11187,340,263 - 187,344,799 (+)NCBI
Celera1180,166,156 - 180,170,827 (+)NCBICelera
Cytogenetic Map1q37NCBI
Bckdk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554937,940,315 - 7,946,317 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554937,940,358 - 7,946,317 (+)NCBIChiLan1.0ChiLan1.0
BCKDK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11631,476,917 - 31,481,193 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,476,917 - 31,483,639 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01623,856,349 - 23,860,586 (-)NCBIMhudiblu_PPA_v0panPan3
BCKDK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl617,128,824 - 17,133,585 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1617,128,615 - 17,132,925 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Bckdk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493650113,467,603 - 13,471,810 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCKDK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,375,352 - 17,402,204 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,375,628 - 17,380,925 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,491,364 - 17,496,671 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BCKDK
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1527,794,963 - 27,799,239 (+)NCBI
ChlSab1.1 Ensembl527,795,083 - 27,799,410 (+)Ensembl
Bckdk
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478214,150,019 - 14,154,124 (+)NCBI

Position Markers
SHGC-61092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,123,705 - 31,123,877UniSTSGRCh37
Build 361631,031,206 - 31,031,378RGDNCBI36
Celera1629,174,150 - 29,174,322RGD
Cytogenetic Map16p11.2UniSTS
HuRef1628,684,879 - 28,685,051UniSTS
RH48904  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera1629,178,263 - 29,178,384RGD
Cytogenetic Map16p11.2UniSTS
BCKDK_9086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371631,123,480 - 31,124,098UniSTSGRCh37
Build 361631,030,981 - 31,031,599RGDNCBI36
Celera1629,173,929 - 29,174,547RGD
HuRef1628,684,654 - 28,685,272UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3758
Count of miRNA genes:901
Interacting mature miRNAs:1102
Transcripts:ENST00000219794, ENST00000287507, ENST00000394950, ENST00000394951, ENST00000484226, ENST00000561755, ENST00000566568, ENST00000567530, ENST00000567676, ENST00000567682
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2433 2895 1714 618 1873 459 4355 2127 3231 412 1453 1611 175 1 1204 2786 5 2
Low 6 96 12 6 78 6 2 70 503 7 7 2 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001271926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC135050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF026548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM679327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX427330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000219794   ⟹   ENSP00000219794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,108,386 - 31,112,791 (+)Ensembl
RefSeq Acc Id: ENST00000287507   ⟹   ENSP00000287507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,108,294 - 31,112,567 (+)Ensembl
RefSeq Acc Id: ENST00000394950   ⟹   ENSP00000378404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,108,294 - 31,112,567 (+)Ensembl
RefSeq Acc Id: ENST00000394951   ⟹   ENSP00000378405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,106,107 - 31,112,567 (+)Ensembl
RefSeq Acc Id: ENST00000484226   ⟹   ENSP00000457226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,109,120 - 31,110,722 (+)Ensembl
RefSeq Acc Id: ENST00000561755   ⟹   ENSP00000455866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,108,484 - 31,109,403 (+)Ensembl
RefSeq Acc Id: ENST00000566568
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,108,449 - 31,112,566 (+)Ensembl
RefSeq Acc Id: ENST00000567530   ⟹   ENSP00000456479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,108,294 - 31,112,533 (+)Ensembl
RefSeq Acc Id: ENST00000567676   ⟹   ENSP00000454947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,108,934 - 31,109,579 (+)Ensembl
RefSeq Acc Id: ENST00000567682   ⟹   ENSP00000457821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1631,111,368 - 31,112,454 (+)Ensembl
RefSeq Acc Id: NM_001122957   ⟹   NP_001116429
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,108,386 - 31,112,838 (+)NCBI
Celera1629,173,915 - 29,178,365 (-)RGD
HuRef1628,680,789 - 28,685,286 (+)NCBI
CHM1_11632,437,335 - 32,441,832 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001271926   ⟹   NP_001258855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,108,386 - 31,112,838 (+)NCBI
GRCh371631,119,615 - 31,124,112 (+)NCBI
HuRef1628,680,789 - 28,685,286 (+)NCBI
CHM1_11632,437,335 - 32,441,832 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005881   ⟹   NP_005872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,108,386 - 31,112,791 (+)NCBI
GRCh371631,119,615 - 31,124,112 (+)NCBI
Build 361631,027,223 - 31,031,422 (+)NCBI Archive
Celera1629,173,915 - 29,178,365 (-)RGD
HuRef1628,680,789 - 28,685,286 (+)NCBI
CHM1_11632,437,335 - 32,441,832 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022859   ⟹   XP_016878348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,108,381 - 31,117,651 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001116429   ⟸   NM_001122957
- Peptide Label: isoform b precursor
- UniProtKB: O14874 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005872   ⟸   NM_005881
- Peptide Label: isoform a precursor
- UniProtKB: O14874 (UniProtKB/Swiss-Prot),   A0A024QZA9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258855   ⟸   NM_001271926
- Peptide Label: isoform c
- UniProtKB: O14874 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016878348   ⟸   XM_017022859
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000219794   ⟸   ENST00000219794
RefSeq Acc Id: ENSP00000455866   ⟸   ENST00000561755
RefSeq Acc Id: ENSP00000287507   ⟸   ENST00000287507
RefSeq Acc Id: ENSP00000457226   ⟸   ENST00000484226
RefSeq Acc Id: ENSP00000378404   ⟸   ENST00000394950
RefSeq Acc Id: ENSP00000378405   ⟸   ENST00000394951
RefSeq Acc Id: ENSP00000454947   ⟸   ENST00000567676
RefSeq Acc Id: ENSP00000457821   ⟸   ENST00000567682
RefSeq Acc Id: ENSP00000456479   ⟸   ENST00000567530
Protein Domains
BCDHK_Adom3   Histidine kinase

Promoters
RGD ID:6793010
Promoter ID:HG_KWN:23600
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394951
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,024,501 - 31,025,001 (+)MPROMDB
RGD ID:6793012
Promoter ID:HG_KWN:23601
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394950,   ENST00000394952,   OTTHUMT00000108511,   OTTHUMT00000108515,   UC010CAH.1,   UC010CAI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,026,551 - 31,027,262 (+)MPROMDB
RGD ID:6851330
Promoter ID:EP73463
Type:initiation region
Name:HS_BCKDK
Description:Branched chain alpha-ketoacid dehydrogenase kinase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,027,208 - 31,027,268EPD
RGD ID:6814573
Promoter ID:HG_XEF:3021
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001091543,   NM_213060
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,027,941 - 31,028,441 (+)MPROMDB
RGD ID:7232075
Promoter ID:EPDNEW_H21783
Type:initiation region
Name:BCKDK_1
Description:branched chain ketoacid dehydrogenase kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,108,386 - 31,108,446EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032959] Chr16:31110247 [GRCh38]
Chr16:31121568 [GRCh37]
Chr16:16p11.2
pathogenic
NM_005881.4(BCKDK):c.222del (p.Met74fs) deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032960] Chr16:31109537 [GRCh38]
Chr16:31120858 [GRCh37]
Chr16:16p11.2
pathogenic
NM_005881.4(BCKDK):c.671G>C (p.Arg224Pro) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000032961] Chr16:31110716 [GRCh38]
Chr16:31122037 [GRCh37]
Chr16:16p11.2
pathogenic
NM_005881.3(BCKDK):c.302G>A (p.Arg101Lys) single nucleotide variant Malignant melanoma [RCV000071097] Chr16:31109710 [GRCh38]
Chr16:31121031 [GRCh37]
Chr16:31028532 [NCBI36]
Chr16:16p11.2
not provided
NM_005881.4(BCKDK):c.1149_1163del (p.Leu386_Gln390del) deletion not provided [RCV000081334] Chr16:31112172..31112186 [GRCh38]
Chr16:31123493..31123507 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.615G>A (p.Thr205=) single nucleotide variant not specified [RCV000116491] Chr16:31110472 [GRCh38]
Chr16:31121793 [GRCh37]
Chr16:16p11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_005881.4(BCKDK):c.845+10C>T single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001086976]|not provided [RCV000711444]|not specified [RCV000116492] Chr16:31111229 [GRCh38]
Chr16:31122550 [GRCh37]
Chr16:16p11.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735204]|not provided [RCV000724088] Chr16:31111301 [GRCh38]
Chr16:31122622 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000765289]|not provided [RCV000173819] Chr16:31111358 [GRCh38]
Chr16:31122679 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001087829]|not provided [RCV000174344] Chr16:31112244 [GRCh38]
Chr16:31123565 [GRCh37]
Chr16:16p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) single nucleotide variant not provided [RCV000174345] Chr16:31112130 [GRCh38]
Chr16:31123451 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.*9C>T single nucleotide variant not provided [RCV000174346] Chr16:31112274 [GRCh38]
Chr16:31123595 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1
pathogenic
GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3 copy number gain See cases [RCV000135339] Chr16:29909613..31438697 [GRCh38]
Chr16:29920934..31450018 [GRCh37]
Chr16:29828435..31357519 [NCBI36]
Chr16:16p11.2
pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2
pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2
pathogenic
NM_005881.4(BCKDK):c.716+10G>C single nucleotide variant not provided [RCV000152851] Chr16:31110771 [GRCh38]
Chr16:31122092 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.846-3T>A single nucleotide variant not provided [RCV000152852] Chr16:31111297 [GRCh38]
Chr16:31122618 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.47C>T (p.Pro16Leu) single nucleotide variant not provided [RCV000175815] Chr16:31109270 [GRCh38]
Chr16:31120591 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.669T>C (p.Thr223=) single nucleotide variant not specified [RCV000192549] Chr16:31110714 [GRCh38]
Chr16:31122035 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.373G>A (p.Val125Met) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000822778]|not provided [RCV000178252] Chr16:31109781 [GRCh38]
Chr16:31121102 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.1058A>G (p.Asp353Gly) single nucleotide variant not specified [RCV000194486] Chr16:31111991 [GRCh38]
Chr16:31123312 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.488A>G (p.Lys163Arg) single nucleotide variant not provided [RCV000179455] Chr16:31110269 [GRCh38]
Chr16:31121590 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr) single nucleotide variant not provided [RCV000180288] Chr16:31110737 [GRCh38]
Chr16:31122058 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:31123271-31153163)x4 copy number gain Ductal breast carcinoma [RCV000207157] Chr16:31123271..31153163 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30391304-31122666)x3 copy number gain Ductal breast carcinoma [RCV000207028] Chr16:30391304..31122666 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Ductal breast carcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
NM_005881.4(BCKDK):c.561C>A (p.Arg187=) single nucleotide variant not specified [RCV000252537] Chr16:31110418 [GRCh38]
Chr16:31121739 [GRCh37]
Chr16:16p11.2
likely benign
NM_005881.4(BCKDK):c.466C>G (p.Arg156Gly) single nucleotide variant not provided [RCV000317979] Chr16:31110247 [GRCh38]
Chr16:31121568 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001088887]|Seizures [RCV001255072]|not provided [RCV000296147] Chr16:31111999 [GRCh38]
Chr16:31123320 [GRCh37]
Chr16:16p11.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005881.4(BCKDK):c.*9C>A single nucleotide variant not provided [RCV000403753] Chr16:31112274 [GRCh38]
Chr16:31123595 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.1115C>T (p.Thr372Met) single nucleotide variant not provided [RCV000266572] Chr16:31112141 [GRCh38]
Chr16:31123462 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.1120C>T (p.Arg374Trp) single nucleotide variant not provided [RCV000598139] Chr16:31112146 [GRCh38]
Chr16:31123467 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.721C>T (p.Leu241=) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001088898]|not provided [RCV000598266] Chr16:31111095 [GRCh38]
Chr16:31122416 [GRCh37]
Chr16:16p11.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.670C>T (p.Arg224Cys) single nucleotide variant not provided [RCV000728717] Chr16:31110715 [GRCh38]
Chr16:31122036 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.193A>G (p.Lys65Glu) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000806066] Chr16:31109416 [GRCh38]
Chr16:31120737 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30943854-31171177)x1 copy number loss See cases [RCV000446201] Chr16:30943854..31171177 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_005881.4(BCKDK):c.249C>A (p.Asp83Glu) single nucleotide variant not provided [RCV000434422] Chr16:31109564 [GRCh38]
Chr16:31120885 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.943G>C (p.Asp315His) single nucleotide variant not provided [RCV000435935] Chr16:31111876 [GRCh38]
Chr16:31123197 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 copy number gain See cases [RCV000447708] Chr16:30830287..31827011 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_005881.4(BCKDK):c.453C>G (p.Tyr151Ter) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000503689] Chr16:31110234 [GRCh38]
Chr16:31121555 [GRCh37]
Chr16:16p11.2
likely pathogenic
NM_005881.4(BCKDK):c.1233G>C (p.Arg411=) single nucleotide variant not specified [RCV000501907] Chr16:31112259 [GRCh38]
Chr16:31123580 [GRCh37]
Chr16:16p11.2
likely benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16p11.2(chr16:30952806-31177641)x1 copy number loss See cases [RCV000511906] Chr16:30952806..31177641 [GRCh37]
Chr16:16p11.2
likely pathogenic
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=) single nucleotide variant not provided [RCV000596818] Chr16:31112211 [GRCh38]
Chr16:31123532 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.1021C>A (p.Gln341Lys) single nucleotide variant not provided [RCV000595691] Chr16:31111954 [GRCh38]
Chr16:31123275 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 copy number gain not provided [RCV000739123] Chr16:30738551..34194635 [GRCh37]
Chr16:16p11.2
benign
NM_005881.4(BCKDK):c.1116G>A (p.Thr372=) single nucleotide variant not provided [RCV000982446] Chr16:31112142 [GRCh38]
Chr16:31123463 [GRCh37]
Chr16:16p11.2
likely benign
NM_005881.4(BCKDK):c.717-5C>T single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000966245] Chr16:31111086 [GRCh38]
Chr16:31122407 [GRCh37]
Chr16:16p11.2
likely benign
NM_005881.4(BCKDK):c.181G>T (p.Ala61Ser) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000965327] Chr16:31109404 [GRCh38]
Chr16:31120725 [GRCh37]
Chr16:16p11.2
benign
NM_005881.4(BCKDK):c.79C>T (p.Leu27Phe) single nucleotide variant not provided [RCV000996258] Chr16:31109302 [GRCh38]
Chr16:31120623 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.357C>A (p.Asn119Lys) single nucleotide variant not provided [RCV000996259] Chr16:31109765 [GRCh38]
Chr16:31121086 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.822G>A (p.Pro274=) single nucleotide variant not provided [RCV000881134] Chr16:31111196 [GRCh38]
Chr16:31122517 [GRCh37]
Chr16:16p11.2
likely benign
NM_005881.4(BCKDK):c.588G>A (p.Ser196=) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000960499] Chr16:31110445 [GRCh38]
Chr16:31121766 [GRCh37]
Chr16:16p11.2
likely benign
NM_005881.4(BCKDK):c.936-10A>G single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000893473] Chr16:31111859 [GRCh38]
Chr16:31123180 [GRCh37]
Chr16:16p11.2
likely benign
GRCh37/hg19 16p11.2(chr16:30851860-31156762)x1 copy number loss not provided [RCV000848082] Chr16:30851860..31156762 [GRCh37]
Chr16:16p11.2
pathogenic
NM_005881.4(BCKDK):c.196-8del deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000794091] Chr16:31109501 [GRCh38]
Chr16:31120822 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp) single nucleotide variant not provided [RCV000991895] Chr16:31110310 [GRCh38]
Chr16:31121631 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.793A>C (p.Ile265Leu) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001214578] Chr16:31111167 [GRCh38]
Chr16:31122488 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.1068T>C (p.Ser356=) single nucleotide variant not provided [RCV000944139] Chr16:31112001 [GRCh38]
Chr16:31123322 [GRCh37]
Chr16:16p11.2
likely benign
NM_005881.4(BCKDK):c.347T>C (p.Ile116Thr) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001244947] Chr16:31109755 [GRCh38]
Chr16:31121076 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.86C>T (p.Ala29Val) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001227743] Chr16:31109309 [GRCh38]
Chr16:31120630 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.372C>T (p.His124=) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV000934309] Chr16:31109780 [GRCh38]
Chr16:31121101 [GRCh37]
Chr16:16p11.2
likely benign
NM_005881.4(BCKDK):c.851C>T (p.Thr284Ile) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001050112] Chr16:31111305 [GRCh38]
Chr16:31122626 [GRCh37]
Chr16:16p11.2
uncertain significance
NM_005881.4(BCKDK):c.1010A>G (p.Glu337Gly) single nucleotide variant Branched-chain keto acid dehydrogenase kinase deficiency [RCV001228688] Chr16:31111943 [GRCh38]
Chr16:31123264 [GRCh37]
Chr16:16p11.2
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16902 AgrOrtholog
COSMIC BCKDK COSMIC
Ensembl Genes ENSG00000103507 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000219794 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000287507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378404 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378405 UniProtKB/Swiss-Prot
  ENSP00000454947 UniProtKB/TrEMBL
  ENSP00000455866 UniProtKB/TrEMBL
  ENSP00000456479 UniProtKB/TrEMBL
  ENSP00000457226 UniProtKB/TrEMBL
  ENSP00000457821 UniProtKB/TrEMBL
Ensembl Transcript ENST00000219794 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000287507 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394950 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394951 UniProtKB/Swiss-Prot
  ENST00000484226 UniProtKB/TrEMBL
  ENST00000561755 UniProtKB/TrEMBL
  ENST00000567530 UniProtKB/TrEMBL
  ENST00000567676 UniProtKB/TrEMBL
  ENST00000567682 UniProtKB/TrEMBL
Gene3D-CATH 1.20.140.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103507 GTEx
HGNC ID HGNC:16902 ENTREZGENE
Human Proteome Map BCKDK Human Proteome Map
InterPro AK/P_DHK_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCDHK/PDK_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCKD/PDK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HATPase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HATPase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  His_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sig_transdc_His_kin-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10295 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10295 ENTREZGENE
OMIM 614901 OMIM
  614923 OMIM
PANTHER PTHR11947 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BCDHK_Adom3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HATPase_c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134899581 PharmGKB
PRINTS BCTRLSENSOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE HIS_KIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HATPase_c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55874 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF69012 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.513520 ENTREZGENE
UniProt A0A024QZA9 ENTREZGENE, UniProtKB/TrEMBL
  BCKD_HUMAN UniProtKB/Swiss-Prot
  H3BNP3_HUMAN UniProtKB/TrEMBL
  H3BQP2_HUMAN UniProtKB/TrEMBL
  H3BS02_HUMAN UniProtKB/TrEMBL
  H3BTL2_HUMAN UniProtKB/TrEMBL
  H3BUV3_HUMAN UniProtKB/TrEMBL
  O14874 ENTREZGENE
UniProt Secondary A8MY43 UniProtKB/Swiss-Prot
  Q6FGL4 UniProtKB/Swiss-Prot
  Q96G95 UniProtKB/Swiss-Prot
  Q96IN5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-04-30 BCKDK  branched chain keto acid dehydrogenase kinase    branched chain ketoacid dehydrogenase kinase  Symbol and/or name change 5135510 APPROVED