| Gene Information |
| Gene ID: | | 91133 |
| Symbol: | | L3MBTL4 |
| Full Name: | | l(3)mbt-like 4 (Drosophila) |
| Alias: | | HsT1031 |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | 18 |
| Genetic Location: | | 18p11.31 |
| Physical Location: | | 5944704-6404909 on NC_000018.8, 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 | |
| rs341184 dbSNP | 1.19 | 51 |
| | 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:0005634 | nucleus | Cellular Component | IEA | |
| GO:0008305 | integrin complex | Cellular Component | ISS (2444974) | |
| GO:0003700 | transcription factor activity | Molecular Function | IEA | |
| GO:0008270 | zinc ion binding | Molecular Function | IEA | |
| GO:0006355 | regulation of transcription, DNA-dependent | Biological Process | IEA | |
| GO:0007155 | cell adhesion | Biological Process | NAS (2444974) | |
| GO:0030168 | platelet activation | Biological Process | ISS (2444974) | |
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| Other Database Cross Links |
| NCBI Entrez Gene: | | 91133 |
| HGNC: | | 26677 |
| Ensembl: | | ENSG00000154655 |
| MIM: | | |
| HPRD: | | 08198 |
| HuGE Navigator: | | 91133 |
| dbSNP: | | L3MBTL4 |
| GeneCard: | | L3MBTL4 |
| AceView: | | L3MBTL4 |
