InnateDB Protein
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IDBP-46291.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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WDR62
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Protein Name
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WD repeat domain 62
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000270301
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InnateDB Gene
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IDBG-46287 (WDR62)
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Protein Structure
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Function |
Required for cerebral cortical development. Plays a role in neuronal proliferation and migration. {ECO:0000269PubMed:20729831, ECO:0000269PubMed:20890278}.
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Subcellular Localization |
Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
16
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001680
WD40 repeat
IPR017986
WD40-repeat-containing domain
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PFAM |
PF00400
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PRINTS |
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PIRSF |
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SMART |
SM00320
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TIGRFAMs |
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Modification |
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SwissProt |
O43379
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PhosphoSite |
PhosphoSite-O43379
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
284403
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UniGene |
Hs.116244
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RefSeq |
NP_775907
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HUGO |
HGNC:24502
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OMIM |
613583
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CCDS |
CCDS33001
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HPRD |
10721
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IMGT |
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EMBL |
AC004144
AD000813
AK090617
AL133651
BC017261
BC058939
BX647726
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GenPept |
AAC27979
AAH17261
BAC03488
CAH56191
CAH56390
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