ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

1012

Symbol:

CDH13

Full Name:

cadherin 13, H-cadherin (heart)

Alias:

CDHH

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

16q24.2-q24.3

Physical Location:

81218078-82387701 on NC_000016.8

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs10514542 dbSNP	0.88	49
rs192599 dbSNP	1.21	49
rs7206473 dbSNP	0.73	49

Association Dataset

Name:		16894614
Method:		Association
Publication:		Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:		Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_001257.3	NP_001248.1	NC_000016.8 range: 81218078..82387701

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0031225	anchored to membrane	Cellular Component	IEA
GO:0043005	neuron projection	Cellular Component	IDA (10737605)
GO:0005901	caveola	Cellular Component	IDA (9650591)
GO:0005886	plasma membrane	Cellular Component	IEA
GO:0005737	cytoplasm	Cellular Component	IDA (10737605)
GO:0005615	extracellular space	Cellular Component	IDA (16873731)
GO:0005509	calcium ion binding	Molecular Function	IEA
GO:0030169	low-density lipoprotein binding	Molecular Function	IDA (16013438)
GO:0045296	cadherin binding	Molecular Function	IDA (10601632)
GO:0042058	regulation of epidermal growth factor receptor signaling pathway	Biological Process	IMP (17573778)
GO:0043542	endothelial cell migration	Biological Process	IDA (14729458)
GO:0043616	keratinocyte proliferation	Biological Process	IDA (15816843)
GO:0045885	positive regulation of survival gene product expression	Biological Process	IMP (16099944)
GO:0048661	positive regulation of smooth muscle cell proliferation	Biological Process	IMP (15364621)
GO:0050850	positive regulation of calcium-mediated signaling	Biological Process	IDA (16013438)
GO:0050927	positive regulation of positive chemotaxis	Biological Process	IDA (16013438)
GO:0051668	localization within membrane	Biological Process	IMP (17573778)
GO:0001938	positive regulation of endothelial cell proliferation	Biological Process	IMP (15364621)
GO:0030335	positive regulation of cell migration	Biological Process	IDA (14729458)
GO:0001954	positive regulation of cell-matrix adhesion	Biological Process	IMP (17573778)
GO:0002040	sprouting angiogenesis	Biological Process	IDA (16873731)
GO:0007156	homophilic cell adhesion	Biological Process	IEA
GO:0007162	negative regulation of cell adhesion	Biological Process	IDA (14729458)
GO:0007266	Rho protein signal transduction	Biological Process	IMP (15703273)
GO:0008285	negative regulation of cell proliferation	Biological Process	IDA (10737605)
GO:0016339	calcium-dependent cell-cell adhesion	Biological Process	IDA (10601632)
GO:0016601	Rac protein signal transduction	Biological Process	IMP (15703273)
GO:0030032	lamellipodium biogenesis	Biological Process	IDA (15703273)
GO:0030100	regulation of endocytosis	Biological Process	IMP (17573778)
GO:0055096	low density lipoprotein mediated signaling	Biological Process	IDA (16013438)