ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CFLAR

Full Name:

CASP8 and FADD-like apoptosis regulator

Alias:

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

2q33-q34

Physical Location:

201689134-201737259 on NC_000002.10

Gene Type:

protein-coding

Orthologs:

This gene has Rat: 117279 Mouse: 12633 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs719125 dbSNP	1.34	13

Association Dataset

Name:		16894614
Method:		Association
Publication:		Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:		Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).

Linkage Dataset

Marker

LOD

P value

Location (bp)

D2S117

195326948

Region:		195326948-216757195
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_003879.4	NP_003870.4	NC_000002.10 range: 201689134..201737259

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0004871	signal transducer activity	Molecular Function	IEP (12761501)
GO:0030693	caspase activity	Molecular Function	IEA
GO:0008234	cysteine-type peptidase activity	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (11741985)
GO:0005515	protein binding	Molecular Function	IEA
GO:0006508	proteolysis	Biological Process	IEA
GO:0006916	anti-apoptosis	Biological Process	TAS (9217161)
GO:0008624	induction of apoptosis by extracellular signals	Biological Process	TAS (9208847)
GO:0042981	regulation of apoptosis	Biological Process	IEA
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	Biological Process	IEP (12761501)