WDR72 (WD repeat domain 72)

2014-08-01  

Identity

HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
AI2A3
FUSION GENES

Other Information

Locus ID:

NCBI: 256764
MIM: 613214
HGNC: 26790
Ensembl: ENSG00000166415

Variants:

dbSNP: 256764
ClinVar: 256764
TCGA: ENSG00000166415
COSMIC: WDR72

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166415ENST00000360509Q3MJ13
ENSG00000166415ENST00000396328Q3MJ13
ENSG00000166415ENST00000557913H0YLX4
ENSG00000166415ENST00000559418H0YKE0
ENSG00000166415ENST00000560036H0YN02
ENSG00000166415ENST00000614174A0A087WTC3

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203831462010New loci associated with kidney function and chronic kidney disease.337
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
198756142010A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose.47
221268372012Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function.13
212948702011Evaluation of four novel genetic variants affecting hemoglobin A1c levels in a population-based type 2 diabetes cohort (the HUNT2 study).5
198532372009Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.0
209380482010Novel WDR72 mutation and cytoplasmic localization.0
211966912011Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.0
250083492014WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.0
272596632016Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.0

Citation

Dessen P

WDR72 (WD repeat domain 72)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54780/wdr72