WDR62 Gene: WD Repeat Domain 62
Key regulator of cerebral cortical development and microcephaly pathogenesis
Gene Information Card
| Symbol | WDR62 |
|---|---|
| Full Name | WD Repeat Domain 62 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 284403 ncbi.nlm.nih.gov/gene/284403 |
| Ensembl ID | ENSG00000175792 |
| UniProt ID | O43379 |
| OMIM ID | 613583 |
| HGNC ID | 24902 |
| Aliases | MCPH2, FLJ31614, KIAA1347 |
Description
WDR62 encodes a WD40-repeat-containing protein that localizes to the centrosome and is essential for mitotic spindle organization and cerebral cortical development. Loss-of-function mutations in WDR62 cause autosomal recessive primary microcephaly type 2 (MCPH2), characterized by reduced brain size and intellectual disability. The protein interacts with the centrosomal protein CEP63 and is required for proper neural progenitor cell division.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 2 (MCPH2) | Loss-of-function mutations impair centrosome function and mitotic progression in neural progenitors, leading to reduced cortical neuron number | OMIM #604317; multiple familial studies |
| Autosomal recessive primary microcephaly | Disrupted WDR62 localization to centrosome causes spindle abnormalities and premature differentiation of neural stem cells | ClinVar; Yu et al., 2010, Nat Genet |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | High |
| Testis | 8.2 | Medium |
| Kidney | 5.1 | Medium |
| Liver | 3.0 | Low |
| Heart | 2.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Common overexpression system |
| HeLa (cervical carcinoma) | 6.5 | Cancer cell line |
| U87MG (glioblastoma) | 9.3 | Brain tumor model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1573C>T (p.Arg525*) | Nonsense | Rare | Loss of function; truncation of WD40 repeats |
| c.1264C>T (p.Arg422Cys) | Missense | Rare | Impaired centrosomal localization |
| c.3340G>A (p.Gly1114Arg) | Missense | Rare | Disrupted protein stability |
| c.1939_1940del (p.Leu647Valfs*3) | Frameshift | Rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of reported mutations are loss-of-function (nonsense, frameshift, splice-site) leading to truncated or unstable protein, causing MCPH2.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Centrosome cycle and mitotic spindle assembly
• Neural progenitor cell division (REACTOME: R-HSA-68877)
Protein Summary
WDR62 is a 1,521-amino-acid protein containing multiple WD40 repeats that form a beta-propeller structure. It localizes to the centrosome during interphase and to the mitotic spindle poles during mitosis. The protein is critical for maintaining centrosome integrity and spindle pole organization in neural progenitor cells. Mutations cause mislocalization and mitotic defects, leading to microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR62 Knockout HEK293 Cell Line | EDJ-KQ2758 | Human | 284403 | Details Get a Quote |
| WDR62 Knockout HCT 116 Cell Line | EDJ-KQ22288 | Human | 284403 | Details Get a Quote |
| WDR62 Knockout A-549 Cell Line | EDJ-KQ23658 | Human | 284403 | Details Get a Quote |
| WDR62 Knockout HeLa Cell Line | EDJ-KQ23660 | Human | 284403 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
