WDR62
Sign in to saveAlso known as C19orf14, MCPH2, WD repeat domain 62
WD repeat-containing protein 62 is a protein that in humans is encoded by the WDR62 gene.
Gene data
WDR62- Name
- WD repeat domain 62
- Type
- protein-coding
- Aliases
- C19orf14, MCPH2
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].
via MyGene.info
Gene · Ensembl
WD repeat domain 62
- Symbol
- WDR62
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 19:36,054,649-36,105,112
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 15927
- exact match
- identifiers.org/ncbigene/284403
- genomic start
- 36054649
- genomic end
- 36105108
- cytogenetic location
- 19q13.12
via Wikidata · CC0
~2 min read
Article
4 sectionsContents
- Function
- Clinical significance
- References
- Further reading
WD repeat-containing protein 62 is a protein that in humans is encoded by the WDR62 gene.
== Function == WDR62 is a scaffold protein and interacts with different kinases. WDR62 plays a role in mediating activation of the JNK pathway in response to TNFα. This finding might have implications in the research of TNFα related diseases such as autoimmune diseases and cancer. It has been also shown that WDR62 upregulation can lead to overproliferation of glia cells and potentially glioma and this is coupled with an upregulation in AURKA, AKT, MYC and PI3K signalling.