| Gene Information |
| Gene ID: | | 6607 |
| Symbol: | | SMN2 |
| Full Name: | | survival of motor neuron 2, centromeric |
| Alias: | | BCD541|C-BCD541|FLJ76644|MGC20996|MGC5208|SMNC |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | 5 |
| Genetic Location: | | 5q13 |
| Physical Location: | | 69381105-69409174 on NC_000005.8 |
| Gene Type: | | protein-coding |
| Orthologs: | | This gene has no orthologs in other dataset(s). |
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| Gene in Ethanol Study Datasets |
| Linkage Dataset | | Marker | LOD | P value | Location (bp) | |
| D5S647 | | | 66282906 | | Region: | | 66282906-76193808 | | Phenotype: | | Alcoholism phenotype along with age, gender, and P300 or constraint | | Name: | | 15211641 | | Method: | | Linkage | | Publication: | | Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed | | Summary: | | A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb). |
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| Gene Refseq Sequence Annotation |
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| Gene Ontology (GO) Annotation |
| GO ID | GO Term | Category | Evidence (PubMed) | |
| GO:0015030 | Cajal body | Cellular Component | NAS (8670859|9845364) | |
| GO:0005829 | cytosol | Cellular Component | EXP (10531003) | |
| GO:0005737 | cytoplasm | Cellular Component | NAS (9845364) | |
| GO:0005681 | spliceosome | Cellular Component | IEA | |
| GO:0005654 | nucleoplasm | Cellular Component | EXP (10531003) | |
| GO:0005634 | nucleus | Cellular Component | IEA | |
| GO:0005515 | protein binding | Molecular Function | NAS (8670859) | |
| GO:0005515 | protein binding | Molecular Function | IPI (11714716|17023415) | |
| GO:0003723 | RNA binding | Molecular Function | IEA | |
| GO:0000387 | spliceosomal snRNP biogenesis | Biological Process | EXP (15130578) | |
| GO:0006397 | mRNA processing | Biological Process | IEA | |
| GO:0008380 | RNA splicing | Biological Process | IEA | |
| GO:0000245 | spliceosome assembly | Biological Process | NAS (9323129|9845364) | |
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| Other Database Cross Links |
| NCBI Entrez Gene: | | 6607 |
| HGNC: | | 11118 |
| Ensembl: | | ENSG00000205571 |
| MIM: | | 601627 |
| HPRD: | | 09036 |
| HuGE Navigator: | | 6607 |
| dbSNP: | | SMN2 |
| GeneCard: | | SMN2 |
| AceView: | | SMN2 |
