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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).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D2S29732.200.0007235696080
D2S1401.950.0014241388318
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.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_001042467.1NP_001035932.1NC_000002.10 range: 238060616..238128699
NM_024101.5NP_077006.1NC_000002.10 range: 238060616..238128699
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005737cytoplasmCellular ComponentIEA
GO:0005515protein bindingMolecular FunctionIEA
GO:0008270zinc ion bindingMolecular FunctionIEA
GO:0017137Rab GTPase bindingMolecular FunctionIEA
GO:0046872metal ion bindingMolecular FunctionIEA
GO:0006886intracellular protein transportBiological ProcessIEA
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