Entrez Summary: This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
Pkinase Tyr
Pkinase
GO Terms
peptidyl-serine phosphorylation
peptidyl-serine modification
protein serine/threonine kinase activity
peptidyl-amino acid modification
protein phosphorylation
phosphorylation
ATP binding
intracellular signal transduction
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)