ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CD40

Full Name:

CD40 molecule, TNF receptor superfamily member 5

Alias:

Bp50|CDW40|MGC9013|TNFRSF5|p50

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

20q12-q13.2

Physical Location:

44180312-44191790 on NC_000020.9

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Dataset Information

Name:		12774316
Method:		Microarray
Tissue:		Temporal cortex
Phenotype:		Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:		Sokolov et al. J Neurosci Res. (2003) Transcription profiling reveals mitochondrial, ubiquitin and signaling systems abnormalities in postmortem brains from subjects with a history of alcohol abuse or dependence. PubMed
Summary:		To identify candidate mechanisms for alcohol abuse, the expression of 12,626 genes was measured in postmortem temporal cortex from 11 subjects with a history of alcohol abuse or dependence, with or without other psychiatric diagnoses and compared pairwise with the expression in 11 nonalcoholic subjects matched for the other psychiatric diagnoses and demographics. Genes were defined to have altered expression in alcohol abuse if: 1) the gene showed decreased expression in at least 10 of 11 subjects with alcohol abuse, or showed increased expression in at least 10 of 11 subjects with this diagnosis compared to matched non-abusers (P<0.007, X2test); or 2) the difference in the mean abuser/non-abuser ratio for the gene from value of 1.0 was significant at P<0.05 (one sample t-test). In subjects with a history of alcohol abuse or dependence, 163 genes were changed significantly.

Gene Information

Original ID1:

CD40

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D20S119

43082264

Region:		41082264-45082264
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

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005576	extracellular region	Cellular Component	IEA
GO:0005886	plasma membrane	Cellular Component	EXP (16893496)
GO:0005886	plasma membrane	Cellular Component	TAS (10748139)
GO:0005887	integral to plasma membrane	Cellular Component	TAS (10748139)
GO:0016020	membrane	Cellular Component	IEA
GO:0004888	transmembrane receptor activity	Molecular Function	IEA
GO:0019899	enzyme binding	Molecular Function	IPI (12223522)
GO:0030168	platelet activation	Biological Process	NAS (9468137)
GO:0042100	B cell proliferation	Biological Process	NAS (8605945)
GO:0007275	multicellular organismal development	Biological Process	NR
GO:0007165	signal transduction	Biological Process	IEA
GO:0006955	immune response	Biological Process	IEA
GO:0006954	inflammatory response	Biological Process	TAS (2475341)
GO:0006915	apoptosis	Biological Process	IEA
GO:0006461	protein complex assembly	Biological Process	TAS (10748139)
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	Biological Process	IEP (12761501)