WDR12 (WD repeat domain 12)

2016-10-01  

Identity

HGNC
LOCATION
2q33.2
LOCUSID
ALIAS
YTM1
FUSION GENES

Other Information

Locus ID:

NCBI: 55759
MIM: 616620
HGNC: 14098
Ensembl: ENSG00000138442

Variants:

dbSNP: 55759
ClinVar: 55759
TCGA: ENSG00000138442
COSMIC: WDR12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138442ENST00000261015Q9GZL7
ENSG00000138442ENST00000261015Q53T99

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
191986092009Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.460
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181
160435142005Mammalian WDR12 is a novel member of the Pes1-Bop1 complex and is required for ribosome biogenesis and cell proliferation.74
173532692007Interdependence of Pes1, Bop1, and WDR12 controls nucleolar localization and assembly of the PeBoW complex required for maturation of the 60S ribosomal subunit.46
207389372010Additive effect of multiple genetic variants on the risk of coronary artery disease.8
258251542015DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex.7
259156322015WDR12, a Member of Nucleolar PeBoW-Complex, Is Up-Regulated in Failing Hearts and Causes Deterioration of Cardiac Function.2

Citation

Dessen P

WDR12 (WD repeat domain 12)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56456/wdr12