Homo sapiens Protein: WDR72
Summary
InnateDB Protein IDBP-12805.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WDR72
Protein Name WD repeat domain 72
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000353699
InnateDB Gene IDBG-12803 (WDR72)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Amelogenesis imperfecta, hypomaturation type, 2A3 (AI2A3) [MIM:613211]: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel. {ECO:0000269PubMed:19853237}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
Protein Structure and Domains
PDB ID
InterPro IPR001680 WD40 repeat
IPR017986 WD40-repeat-containing domain
PFAM PF00400
PRINTS
PIRSF
SMART SM00320
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q3MJ13
PhosphoSite PhosphoSite-Q3MJ13
TrEMBL H0YN02
UniProt Splice Variant
Entrez Gene 256764
UniGene Hs.122125
RefSeq
HUGO HGNC:26790
OMIM 613214
CCDS CCDS10151
HPRD 10987
IMGT
EMBL AC024061 AC066611 AC066614 AK096055 BC101614 BC101616 BX537884
GenPept AAI01615 AAI01617 BAC04689 CAD97880