Version 5.4
Homo sapiens Protein: WDR62
Summary
InnateDB Protein IDBP-295219.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol WDR62
Protein Name WD repeat domain 62
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000384792
InnateDB Gene IDBG-46287 (WDR62)
Protein Structure
UniProt Annotation
Function Required for cerebral cortical development. Plays a role in neuronal proliferation and migration. {ECO:0000269PubMed:20729831, ECO:0000269PubMed:20890278}.
Subcellular Localization Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis.
Disease Associations Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]: A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures. {ECO:0000269PubMed:20729831, ECO:0000269PubMed:20890278, ECO:0000269PubMed:20890279, ECO:0000269PubMed:21496009}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells. {ECO:0000269PubMed:20890279}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated
Total 16 [view]
Protein-Protein 16 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0021987 cerebral cortex development
GO:0022008 neurogenesis
GO:0045087 innate immune response (InnateDB)
Cellular Component
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005737 cytoplasm
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 O43379
PhosphoSite PhosphoSite-O43379
TrEMBL
UniProt Splice Variant
Entrez Gene 284403
UniGene Hs.116244
RefSeq NP_001077430
HUGO HGNC:24502
OMIM 613583
CCDS CCDS46059
HPRD 10721
IMGT
EMBL AC004144 AD000813 AK090617 AL133651 BC017261 BC058939 BX647726
GenPept AAC27979 AAH17261 BAC03488 CAH56191 CAH56390

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca