| Gene Information |
| Gene ID: | | 114784 |
| Symbol: | | CSMD2 |
| Full Name: | | CUB and Sushi multiple domains 2 |
| Alias: | | KIAA1884|dJ1007G16.1|dJ1007G16.2|dJ947L8.1 |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | 1 |
| Genetic Location: | | 1p35.1-p34.3 |
| Physical Location: | | 33752195-34404029 on NC_000001.9, complement |
| Gene Type: | | protein-coding |
| Orthologs: | | This gene has no orthologs in other dataset(s). |
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| Gene in Ethanol Study Datasets |
| Gene SNP Information | | SNP | Abuser/Control Ratio | Cluster | |
| rs4393118 dbSNP | 1.19 | 2 |
| | 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). |
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| Gene Refseq Sequence Annotation |
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| Gene Ontology (GO) Annotation |
| GO ID | GO Term | Category | Evidence (PubMed) | |
| GO:0016020 | membrane | Cellular Component | IEA | |
| GO:0016021 | integral to membrane | Cellular Component | IEA | |
| GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | Molecular Function | IEA | |
| GO:0005975 | carbohydrate metabolic process | Biological Process | IEA | |
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| Other Database Cross Links |
| NCBI Entrez Gene: | | 114784 |
| HGNC: | | 19290 |
| Ensembl: | | ENSG00000121904 |
| MIM: | | 608398 |
| HPRD: | | 13094 |
| HuGE Navigator: | | 114784 |
| dbSNP: | | CSMD2 |
| GeneCard: | | CSMD2 |
| AceView: | | CSMD2 |
