KBTBD4 (kelch repeat and BTB domain containing 4)

2014-11-01  

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
BKLHD4,HSPC252

Other Information

Locus ID:

NCBI: 55709
MIM: 617645
HGNC: 23761
Ensembl: ENSG00000123444

Variants:

dbSNP: 55709
ClinVar: 55709
TCGA: ENSG00000123444
COSMIC: KBTBD4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123444ENST00000395288Q9NVX7
ENSG00000123444ENST00000430070Q9NVX7
ENSG00000123444ENST00000525720E9PQ38
ENSG00000123444ENST00000526005Q9NVX7
ENSG00000123444ENST00000529499E9PL18
ENSG00000123444ENST00000529946E9PJ66
ENSG00000123444ENST00000530668E9PSA4
ENSG00000123444ENST00000531067E9PJY1
ENSG00000123444ENST00000533290A0A075B6T4
ENSG00000123444ENST00000534239E9PM58

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
350000182022Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.0
353799502022Disease-associated KBTBD4 mutations in medulloblastoma elicit neomorphic ubiquitylation activity to promote CoREST degradation.3
350000182022Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.0
353799502022Disease-associated KBTBD4 mutations in medulloblastoma elicit neomorphic ubiquitylation activity to promote CoREST degradation.3
314036852019Lack of KBTBD4 Mutations in Molecularly Classified Brazilian Medulloblastomas.1
314036852019Lack of KBTBD4 Mutations in Molecularly Classified Brazilian Medulloblastomas.1

Citation

Dessen P

KBTBD4 (kelch repeat and BTB domain containing 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64753