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Gene Information
Gene ID:919
Symbol:CD247
Full Name:CD247 molecule
Alias:CD3-ZETA|CD3H|CD3Q|CD3Z|T3Z|TCRZ
Organism:Homo sapiens (Human)
Chromosome:1
Genetic Location:1q22-q23
Physical Location:165666504-165754449 on NC_000001.9, complement
Gene Type:protein-coding
Orthologs:This gene has Mouse: 12503 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D1S2878  163669990
Region:163669990-165871089
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).
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000734.3NP_000725.1NC_000001.9 range: 165666504..165754449, complement
NM_198053.2NP_932170.1NC_000001.9 range: 165666504..165754449, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0042101T cell receptor complexCellular ComponentIDA (8176201)
GO:0005737cytoplasmCellular ComponentIDA (11390434)
GO:0005886plasma membraneCellular ComponentEXP (11048639|11827988|15489916|17652306)
GO:0005886plasma membraneCellular ComponentIDA (1390434|11390434)
GO:0016021integral to membraneCellular ComponentIEA
GO:0016020membraneCellular ComponentIEA
GO:0004888transmembrane receptor activityMolecular FunctionIEA
GO:0042803protein homodimerization activityMolecular FunctionNAS (12110186)
GO:0005057receptor signaling protein activityMolecular FunctionNR
GO:0007166cell surface receptor linked signal transductionBiological ProcessIEA
Other Database Cross Links
NCBI Entrez Gene:919
HGNC:1677
Ensembl:ENSG00000198821
MIM:186780
HPRD:01729
HuGE Navigator:919
dbSNP:CD247
GeneCard:CD247
AceView:CD247