Gene Information |
Gene ID: | | 79083 |
Symbol: | | MLPH |
Full Name: | | melanophilin |
Alias: | | MGC2771|MGC59733|SLAC2-A |
Organism: | | Homo sapiens (Human) |
Chromosome: | | 2 |
Genetic Location: | | 2q37.3 |
Physical Location: | | 238060616-238128699 on NC_000002.10 |
Gene Type: | | protein-coding |
Orthologs: | | This gene has Mouse: 171531 ortholog(s) in other dataset(s). |
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Gene in Ethanol Study Datasets |
Linkage Dataset | Marker | LOD | P value | Location (bp) | |
D2S2973 | 2.20 | 0.0007 | 235696080 | D2S140 | 1.95 | 0.0014 | 241388318 | Region: | | 235696080-241388318 | Phenotype: | | WDSFS (withdrawal symptoms factor score) | Name: | | 17067344 | Method: | | Linkage | Publication: | | Kuo et al. Alcohol Clin Exp Res. (2006) Identification of susceptibility loci for alcohol-related traits in the Irish Affected Sib Pair Study of Alcohol Dependence. PubMed | Summary: | | A 4-cM dense whole-genome linkage study was conducted in the Irish Affected Sib Pair Study of Alcohol Dependence. Probands, affected siblings, and parents were evaluated by structured interview. Variance component linkage analysis was applied to data from 485 families for 5 measures: initial sensitivity and tolerance (based on scales from the self-report of the effects of ethanol; maximum drinks within 24 hours, an empirically derived factor score based on withdrawal symptoms, and age at onset of alcohol dependence. |
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Gene Refseq Sequence Annotation |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0005737 | cytoplasm | Cellular Component | IEA | |
GO:0005515 | protein binding | Molecular Function | IEA | |
GO:0008270 | zinc ion binding | Molecular Function | IEA | |
GO:0017137 | Rab GTPase binding | Molecular Function | IEA | |
GO:0046872 | metal ion binding | Molecular Function | IEA | |
GO:0006886 | intracellular protein transport | Biological Process | IEA | |
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Other Database Cross Links |
NCBI Entrez Gene: | | 79083 |
HGNC: | | 29643 |
Ensembl: | | ENSG00000115648 |
MIM: | | 606526 |
HPRD: | | 09409 |
HuGE Navigator: | | 79083 |
dbSNP: | | MLPH |
GeneCard: | | MLPH |
AceView: | | MLPH |