CDH12 (Entrez ID: 1010)

Entrez Gene ID	1010
Official Gene Symbol	CDH12 (GeneCards)
Full name	cadherin 12
Location	5p14.3
Other ids	Vega : OTTHUMG00000090591 MIM : 600562 HGNC : HGNC:1751 Ensembl : ENSG00000154162
Other names	CDHB
Summary	This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]

Variants

Found 25 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
1092	1010	CDH12	5	22078971	22078971	Human Skin Fibroblasts	HiSeq 2500
1093	1010	CDH12	5	22078972	22078972	Human Skin Fibroblasts	HiSeq 2500
7677	1010	CDH12	5	21836947	21836947	Asymptomatic	HiSeq 2500 HiSeq X Ten
7681	1010	CDH12	5	23443006	23443006	Asymptomatic	HiSeq 2500 HiSeq X Ten
7785	1010	CDH12	5	23482928	23482928	Asymptomatic	HiSeq 2500 HiSeq X Ten
7883	1010	CDH12	5	22421886	22421886	Asymptomatic	HiSeq 2500 HiSeq X Ten
8059	1010	CDH12	5	22668601	22668601	Asymptomatic	HiSeq 2500 HiSeq X Ten
8074	1010	CDH12	5	22172485	22172485	Asymptomatic	HiSeq 2500 HiSeq X Ten
8075	1010	CDH12	5	22769984	22769984	Asymptomatic	HiSeq 2500 HiSeq X Ten
8153	1010	CDH12	5	22014009	22014009	Asymptomatic	HiSeq 2500 HiSeq X Ten
8211	1010	CDH12	5	22225600	22225600	Asymptomatic	HiSeq 2500 HiSeq X Ten
8401	1010	CDH12	5	21794174	21794174	Asymptomatic	HiSeq 2500 HiSeq X Ten
8771	1010	CDH12	5	22472258	22472258	Cockayne syndrome	HiSeq 2500 HiSeq X Ten
8884	1010	CDH12	5	22323747	22323747	Xeroderma Pigmentosum	HiSeq 2500 HiSeq X Ten
23016	1010	CDH12	5	22767916	22767916	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
23072	1010	CDH12	5	22724199	22724199	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25770	1010	CDH12	5	22408996	22408996	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25771	1010	CDH12	5	22408997	22408997	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25800	1010	CDH12	5	22408996	22408996	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25801	1010	CDH12	5	22408997	22408997	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25835	1010	CDH12	5	22288731	22288731	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25852	1010	CDH12	5	22408996	22408996	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25853	1010	CDH12	5	22408997	22408997	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25854	1010	CDH12	5	23101943	23101943	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning
25864	1010	CDH12	5	22865982	22865982	Asymptomatic	HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning