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WD repeat domain 62
Summary
- Gene Symbol
-
- WDR62
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Alternative splicing
- Cytoskeleton
- Disease variant
- Intellectual disability
- Neurogenesis
- Nucleus
- Phosphoprotein
- Primary microcephaly
- Proteomics identification
- Reference proteome
- Repeat
- WD repeat
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A7P0T9D9 |
|
| A0A7P0Z436 |
|
| O43379 |
|
| A0A7P0TAK3 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| positive regulation of neuroblast proliferation | ||
| mitotic spindle organization | ||
| centriole replication | ||
| cerebral cortex development | ||
| neurogenesis |
GO Hierarchy
GO Hierarchy
GO Hierarchy
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070293 | primary autosomal recessive microcephaly 2 with or without cortical malformations | |
| DOID:0070296 | primary autosomal recessive microcephaly | |
| DOID:0080918 | polymicrogyria | |
| DOID:1059 | intellectual disability |
