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
377127432023Long non-coding RNA X-Inactive Specific Transcript (XIST) interacting with USF2 promotes osteogenic differentiation of periodontal ligament stem cells through regulation of WDR72 transcription.1
377127432023Long non-coding RNA X-Inactive Specific Transcript (XIST) interacting with USF2 promotes osteogenic differentiation of periodontal ligament stem cells through regulation of WDR72 transcription.1
353014232022Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.3
353014232022Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.3
307798772019WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.17
307798772019WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.17
300280032018Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.24
300280032018Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.24
272596632016Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.5
272596632016Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.5
250083492014WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.23
250083492014WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.23
221268372012Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function.21
221268372012Genome-wide study identifies PTPRO and WDR72 and FOXQ1-SUMO1P1 interaction associated with neurocognitive function.21
211966912011Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.15

Citation

Dessen P

WDR72 (WD repeat domain 72)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54780/wdr72-(wd-repeat-domain-72)