ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

BMPR2

Full Name:

bone morphogenetic protein receptor, type II (serine/threonine kinase)

Alias:

BMPR-II|BMPR3|BMR2|BRK-3|FLJ41585|FLJ76945|PPH1|T-ALK

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

2q33-q34

Physical Location:

202949915-203140718 on NC_000002.10

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)

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_001204.6	NP_001195.2	NC_000002.10 range: 202949915..203140718

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005886	plasma membrane	Cellular Component	EXP (17356069)
GO:0016020	membrane	Cellular Component	IEA
GO:0005887	integral to plasma membrane	Cellular Component	TAS (7791754)
GO:0030145	manganese ion binding	Molecular Function	IEA
GO:0016740	transferase activity	Molecular Function	IEA
GO:0000166	nucleotide binding	Molecular Function	IEA
GO:0005524	ATP binding	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (15188402)
GO:0005024	transforming growth factor beta receptor activity	Molecular Function	IEA
GO:0000287	magnesium ion binding	Molecular Function	IEA
GO:0004672	protein kinase activity	Molecular Function	IEA
GO:0004674	protein serine/threonine kinase activity	Molecular Function	IEA
GO:0004872	receptor activity	Molecular Function	IEA
GO:0006468	protein amino acid phosphorylation	Biological Process	IEA
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	Biological Process	IEA
GO:0001501	skeletal development	Biological Process	NR
GO:0030509	BMP signaling pathway	Biological Process	EXP (15621726)
GO:0042127	regulation of cell proliferation	Biological Process	IMP (11502704)