Gene: CTNND2

Alternate names for this Gene: GT24|NPRAP

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.2

Description of this Gene: catenin delta 2

Type of Gene: protein-coding

rs11744876 in CTNND2 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs11744876 in CTNND2 gene and AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs11744876 in CTNND2 gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs10059423 in CTNND2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11744876 in CTNND2 gene and Amyotrophic Lateral Sclerosis, Sporadic PMID 24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.

rs6891903 in CTNND2 gene and Autistic Disorder PMID 22843504 2012 Individual common variants exert weak effects on the risk for autism spectrum disorders.

rs2727603 in CTNND2 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2907092 in CTNND2 gene and HIV Infections PMID 29206233 2017 Genome-wide admixture and association study of subclinical atherosclerosis in the Women's Interagency HIV Study (WIHS).

rs2973488 in CTNND2 gene and Mental deterioration PMID 22054870 2012 A genome-wide scan for common variants affecting the rate of age-related cognitive decline.

rs1554008611 in CTNND2 gene and Movement Disorders PMID 25839933 2015 CTNND2 deletion and intellectual disability.

PMID 25807484 2015 Loss of δ-catenin function in severe autism.

PMID 26601658 2016 Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

PMID 25473103 2015 CTNND2-a candidate gene for reading problems and mild intellectual disability.

PMID 29127138 2017 δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 15733271 2005 A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

PMID 12835311 2003 Dual regulation of neuronal morphogenesis by a delta-catenin-cortactin complex and Rho.

rs16901233 in CTNND2 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs10059423 in CTNND2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs116210778 in CTNND2 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.