Entrez Summary: This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
SAM 1
SAM 2
PID
Ank
Ank 2
GO Terms
regulation of synaptic plasticity by receptor localization to synapse
ephrin receptor binding
receptor localization to synapse
Cajal body
protein localization to synapse
dendritic spine
postsynaptic membrane
postsynaptic density
protein-containing complex localization
cell junction
intracellular membrane-bounded organelle
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)