WDR62 Gene Summary [Human]
This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
Details
| Type | Retained Intron |
| Official Symbol | WDR62 |
| Official Name | WD repeat domain 62 [Source:HGNC Symbol;Acc:HGNC:24502] |
| Ensembl ID | ENSG00000075702 |
| Bio databases IDs | |
| Aliases | WD repeat domain 62 |
| Synonyms | 2310038K02Rik, b2b1508Clo, C19orf14, DKFZP434J046, LOC100911863, MCPH2, NEWGENE 1306714, RGD1306714, WD repeat domain 62 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human WDR62 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Anaphase-promoting complex subunit 4 WD40 domain
- WD40 repeats
- MKK7 binding domain
- alpha helix
- WD domain, G-beta repeat
- WD40
- protein binding
- Jnk-binding domain
- loop domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- autosomal recessive primary microcephaly type 2
- organismal death
- overall survival
- mental retardation
- hereditary disorder
- autosomal recessive primary microcephaly 2 with cortical malformations
- primary microcephaly
- autosomal recessive nonsyndromic mental retardation
- Skraban-Deardorff syndrome
regulated by
- arsenite
role in cell
- activation in
- expression in
- migration
- differentiation
- proliferation
- apoptosis
- number
- cell cycle progression
- temozolomide resistance
- replication
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- centrosome
- Golgi Apparatus
- cytosol
- spindle pole
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human WDR62 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- centriole replication
- mitotic spindle organization
- positive regulation of neuroblast proliferation
- neurogenesis
- regulation of neuron differentiation
- cerebral cortex development
- regulation of centrosome cycle
- positive regulation of neuron migration
Cellular Component
Where in the cell the gene product is active
- nucleus
- centrosome
- mitotic spindle
- centriole
- centriolar satellite
- spindle pole
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding