Recombinant Human Catenin delta-2 (CTNND2), Truncated

Uniprot Id

Q9UQB3

Target Species

Human

Target Name

CTNND2

Target Full Name

Catenin delta-2

Target Function

Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses. Involved in the regulation of Wnt signaling. It probably acts on beta-catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation. Functions as a transcriptional activator when bound to ZBTB33. May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.

Target Involvement

Defects in CTNND2, including deleterious missense and copy number variants (CNVs) are involved in autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Target Subcellular Location

Nucleus. Cell junction, adherens junction. Cell projection, dendrite. Perikaryon.

Target Protein Families

Beta-catenin family

Target Tissue Specificity

Expressed in brain; highest expression is observed in fetal brain.

Target Synonyms

ARM-repeat protein; Catenin (cadherin associated protein) delta 2; catenin (cadherin-associated protein); delta 2 (neural plakophilin-related arm-repeat protein); Catenin delta 2; Catenin delta-2; CTND2_HUMAN; CTNND 2; Ctnnd2; Delta catenin; Delta-catenin; GT 24; GT24; Neural plakophilin related arm repeat protein; Neural plakophilin related armadillo repeat protein; Neural plakophilin-related ARM-repeat protein; Neural plakophilin-related; Neurojungin; Neurojungin; NPRAP; T cell delta catenin

Target Background

This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms.