ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

920

Symbol:

CD4

Full Name:

CD4 molecule

Alias:

CD4mut

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

12pter-p12

Physical Location:

6768911-6800236 on NC_000012.10

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

CD4

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.

Gene Information

Original ID	No. of Publications	Phenotype
CD4	1	Alcoholism

HuGE Navigator Dataset

Name:		HuGE Navigator
Method:		Literature data mining
Publication:		Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:		HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D12S99

5434815

Region:		3434815-7434815
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

mRNA	Protein	Reference assembly Genomic
NM_000616.3	NP_000607.1	NC_000012.10 range: 6768911..6800236

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0042101	T cell receptor complex	Cellular Component	NAS (8512039)
GO:0005886	plasma membrane	Cellular Component	IDA (8124721)
GO:0005886	plasma membrane	Cellular Component	EXP (2014052\|11048639\|11827988\|15202998\|15489916\|17652306)
GO:0005789	endoplasmic reticulum membrane	Cellular Component	EXP (9660940)
GO:0005769	early endosome	Cellular Component	EXP (2014052\|15202998)
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0042289	MHC class II protein binding	Molecular Function	NAS (8512039)
GO:0019901	protein kinase binding	Molecular Function	IPI (7486703)
GO:0015026	coreceptor activity	Molecular Function	NAS (8512039)
GO:0042803	protein homodimerization activity	Molecular Function	IDA (12444132)
GO:0008270	zinc ion binding	Molecular Function	IDA (9668045)
GO:0005201	extracellular matrix structural constituent	Molecular Function	NAS (12444132)
GO:0004888	transmembrane receptor activity	Molecular Function	TAS (10358157)
GO:0001948	glycoprotein binding	Molecular Function	IPI (10922058)
GO:0045058	T cell selection	Biological Process	IDA (9551897)
GO:0045086	positive regulation of interleukin-2 biosynthetic process	Biological Process	NAS (1901411)
GO:0045860	positive regulation of protein kinase activity	Biological Process	IDA (2118992)
GO:0019059	initiation of viral infection	Biological Process	EXP (12091904)
GO:0000747	conjugation with cellular fusion	Biological Process	IDA (9166430)
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	Biological Process	NAS (8512039)
GO:0007155	cell adhesion	Biological Process	IEA
GO:0006955	immune response	Biological Process	NAS (8512039)
GO:0050863	regulation of T cell activation	Biological Process	IDA (1533274)