CTNND2 (Entrez ID: 1501)

Entrez Gene ID	1501
Official Gene Symbol	CTNND2 (GeneCards)
Full name	catenin delta 2
Location	5p15.2
Other ids	Vega : OTTHUMG00000090511 MIM : 604275 HGNC : HGNC:2516 Ensembl : ENSG00000169862
Other names	GT24, NPRAP
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. [provided by RefSeq, Dec 2013]

Variants

Found 24 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
628	1501	CTNND2	5	11327458	11327458	Intellectual Disability	CG
7504	1501	CTNND2	5	11960135	11960135	Asymptomatic	CG HiSeq X Ten
7560	1501	CTNND2	5	11712082	11712082	Asymptomatic	CG HiSeq X Ten HiSeq 2000
7584	1501	CTNND2	5	11173568	11173568	Asymptomatic	CG HiSeq X Ten HiSeq 2000
7602	1501	CTNND2	5	11173568	11173568	Asymptomatic	CG HiSeq X Ten HiSeq 2000
7652	1501	CTNND2	5	11268452	11268452	Asymptomatic	CG HiSeq X Ten HiSeq 2000
7729	1501	CTNND2	5	12142839	12142839	Asymptomatic	CG HiSeq X Ten HiSeq 2000
7801	1501	CTNND2	5	11090488	11090488	Asymptomatic	CG HiSeq X Ten HiSeq 2000
7825	1501	CTNND2	5	11867654	11867654	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8091	1501	CTNND2	5	11290378	11290378	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8302	1501	CTNND2	5	11538965	11538965	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8303	1501	CTNND2	5	12211035	12211035	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8331	1501	CTNND2	5	11538241	11538241	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8332	1501	CTNND2	5	11732681	11732681	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8345	1501	CTNND2	5	11438982	11438982	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8346	1501	CTNND2	5	11607467	11607467	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8459	1501	CTNND2	5	11400297	11400297	Asymptomatic	CG HiSeq X Ten HiSeq 2000
8588	1501	CTNND2	5	12116016	12116016	Cockayne syndrome	CG HiSeq X Ten HiSeq 2000
8618	1501	CTNND2	5	12361462	12361462	Cockayne syndrome	CG HiSeq X Ten HiSeq 2000
8736	1501	CTNND2	5	11394894	11394894	Cockayne syndrome	CG HiSeq X Ten HiSeq 2000
8829	1501	CTNND2	5	11548789	11548789	Xeroderma Pigmentosum	CG HiSeq X Ten HiSeq 2000
22966	1501	CTNND2	5	11583293	11583293	Asymptomatic	CG HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25908	1501	CTNND2	5	12215815	12215815	Asymptomatic	CG HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
25928	1501	CTNND2	5	12215815	12215815	Asymptomatic	CG HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning