ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

STAB2

Full Name:

stabilin 2

Alias:

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

12q23.3

Physical Location:

102505198-102684631 on NC_000012.10

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)

D12S346

98052454

Region:		98052454-102788867
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_017564.9	NP_060034.9	NC_000012.10 range: 102505198..102684631

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005887	integral to plasma membrane	Cellular Component	IDA (12077138)
GO:0009897	external side of plasma membrane	Cellular Component	ISS
GO:0005886	plasma membrane	Cellular Component	IEA
GO:0015035	protein disulfide oxidoreductase activity	Molecular Function	NAS (12077138)
GO:0016846	carbon-sulfur lyase activity	Molecular Function	IEA
GO:0005540	hyaluronic acid binding	Molecular Function	ISS
GO:0005515	protein binding	Molecular Function	NAS (12077138)
GO:0005044	scavenger receptor activity	Molecular Function	IDA (12077138)
GO:0005041	low-density lipoprotein receptor activity	Molecular Function	IDA (12077138)
GO:0004872	receptor activity	Molecular Function	IEA
GO:0008368	Gram-negative bacterial binding	Molecular Function	IDA (11829752)
GO:0007155	cell adhesion	Biological Process	NAS (12077138)
GO:0006898	receptor-mediated endocytosis	Biological Process	TAS (12077138)
GO:0001525	angiogenesis	Biological Process	NAS (12077138)
GO:0042742	defense response to bacterium	Biological Process	IDA (12077138)