KLHDC8B (kelch domain containing 8B)

2009-11-01  

Identity

HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
CHL

Other Information

Locus ID:

NCBI: 200942
MIM: 613169
HGNC: 28557
Ensembl: ENSG00000185909

Variants:

dbSNP: 200942
ClinVar: 200942
TCGA: ENSG00000185909
COSMIC: KLHDC8B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185909ENST00000332780Q8IXV7
ENSG00000185909ENST00000332780A0A024R2X4

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
229882452012The kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability.13
229882452012The kelch protein KLHDC8B guards against mitotic errors, centrosomal amplification, and chromosomal instability.13
201073182010Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphoma.5
201073182010Mutations in a gene encoding a midbody protein in binucleated Reed-Sternberg cells of Hodgkin lymphoma.5
197064672009Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells.30
197064672009Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells.30

Citation

Dessen P

KLHDC8B (kelch domain containing 8B)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51227/klhdc8b