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Gene Information
Gene ID:10243
Symbol:GPHN
Full Name:gephyrin
Alias:GEPH|GPH|GPHRYN|KIAA1385
Organism:Homo sapiens (Human)
Chromosome:14
Genetic Location:14q23.3
Physical Location:66043877-66718277 on NC_000014.7
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:GPHN
Dataset Information
Name:18477577
Method:Addiction array gene list
Publication:Hodgkinson et al. Alcohol Alcohol. (2008) Addictions Biology: Haplotype-Based Analysis for 130 Candidate Genes on a Single Array. PubMed
Summary:To develop a panel of markers able to extract full haplotype information for candidate genes in alcoholism, other addictions and disorders of mood and anxiety. Methods: A total of 130 genes were haplotype tagged and genotyped in 7 case/control populations and 51 reference populations using Illumina GoldenGate SNP genotyping technology, determining haplotype coverage. The 130 candidate genes were selected on the basis of their roles in functional domains important in the addictions and in the related phenotypes of anxiety and depression. The candidate genes included a limited number involved in the pharmacokinetic domain (e.g. several genes in the ADH gene cluster, and ALDH genes). The majority of the genes represent the domains of vulnerability to drug use and pharmacodynamic response. These include dopamine, serotonin, glutamine, GABA, and opioid neurotransmitter genes, signaling genes, and genes modulating stress resiliency and behavioral dyscontrol domains. There is a high degree of overlap between functional gene categories because of pleiotropic actions of molecules on behavior.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_001024218.1NP_001019389.1NC_000014.7 range: 66043877..66718277
NM_020806.4NP_065857.1NC_000014.7 range: 66043877..66718277
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005737cytoplasmCellular ComponentIEA
GO:0005856cytoskeletonCellular ComponentIEA
GO:0030054cell junctionCellular ComponentIEA
GO:0045202synapseCellular ComponentIEA
GO:0045211postsynaptic membraneCellular ComponentIEA
GO:0000166nucleotide bindingMolecular FunctionIEA
GO:0000287magnesium ion bindingMolecular FunctionIEA
GO:0003824catalytic activityMolecular FunctionIEA
GO:0006777Mo-molybdopterin cofactor biosynthetic processBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:10243
HGNC:15465
Ensembl:ENSG00000171723
MIM:603930
HPRD:04893
HuGE Navigator:10243
dbSNP:GPHN
GeneCard:GPHN
AceView:GPHN