ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CARD11

Full Name:

caspase recruitment domain family, member 11

Alias:

BIMP3|CARMA1|MGC133069

Organism:

Homo sapiens (Human)

Chromosome:

7

Genetic Location:

7p22

Physical Location:

2912294-3050104 on NC_000007.12, complement

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D7S517

4464441

Region:		2464441-6464441
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_032415.3	NP_115791.3	NC_000007.12 range: 2912294..3050104, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005886	plasma membrane	Cellular Component	IDA (12154360)
GO:0005622	intracellular	Cellular Component	IEA
GO:0005737	cytoplasm	Cellular Component	IDA (12154360)
GO:0005829	cytosol	Cellular Component	EXP (15122200\|15125833\|15541657\|17468049)
GO:0042101	T cell receptor complex	Cellular Component	IDA (12154360)
GO:0045121	membrane raft	Cellular Component	IDA (12154360)
GO:0004385	guanylate kinase activity	Molecular Function	NAS (11278692)
GO:0005515	protein binding	Molecular Function	IPI (16809782)
GO:0050700	CARD domain binding	Molecular Function	IPI (11278692)
GO:0042981	regulation of apoptosis	Biological Process	IEA
GO:0001819	positive regulation of cytokine production	Biological Process	IMP (12154360)
GO:0051092	activation of NF-kappaB transcription factor	Biological Process	IMP (12154360)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000198286

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: