Homo sapiens Protein: WDR72 | |||||
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Summary | |||||
InnateDB Protein | IDBP-237748.6 | ||||
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 | ENSP00000379619 | ||||
InnateDB Gene | IDBG-12803 (WDR72) | ||||
Protein Structure |
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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.
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Gene Ontology | |||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||
PDB ID | |||||
InterPro |
IPR001680
WD40 repeat IPR017986 WD40-repeat-containing domain |
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PFAM |
PF00400
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PRINTS | |||||
PIRSF | |||||
SMART |
SM00320
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TIGRFAMs | |||||
Post-translational Modifications | |||||
Modification | |||||
Cross-References | |||||
SwissProt | Q3MJ13 | ||||
PhosphoSite | PhosphoSite-Q3MJ13 | ||||
TrEMBL | H0YN02 | ||||
UniProt Splice Variant | |||||
Entrez Gene | 256764 | ||||
UniGene | Hs.122125 | ||||
RefSeq | NP_877435 | ||||
HUGO | HGNC:26790 | ||||
OMIM | 613214 | ||||
CCDS | CCDS10151 | ||||
HPRD | 10987 | ||||
IMGT | |||||
EMBL | AC024061 AC066611 AC066614 AK096055 BC101614 BC101616 BX537884 | ||||
GenPept | AAI01615 AAI01617 BAC04689 CAD97880 | ||||