KBTBD13 (kelch repeat and BTB domain containing 13)

2014-11-01  

Identity

HGNC
LOCATION
15q22.31
LOCUSID
ALIAS
HCG1645727,NEM6

Other Information

Locus ID:

NCBI: 390594
MIM: 613727
HGNC: 37227
Ensembl: ENSG00000234438

Variants:

dbSNP: 390594
ClinVar: 390594
TCGA: ENSG00000234438
COSMIC: KBTBD13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000234438ENST00000432196C9JR72

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
225425172012KBTBD13 interacts with Cullin 3 to form a functional ubiquitin ligase.19
211092272010Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.0

Citation

Dessen P

KBTBD13 (kelch repeat and BTB domain containing 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64750/kbtbd13