ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

BMPR1B

Full Name:

bone morphogenetic protein receptor, type IB

Alias:

ALK-6|ALK6|CDw293

Organism:

Homo sapiens (Human)

Chromosome:

4

Genetic Location:

4q22-q24

Physical Location:

95898150-96295098 on NC_000004.10

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

BMPR1B

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.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D4S423

2.61

0.0003

92691777

D4S427

3.53

0.00003

121646580

Region:		92691777-121646580
Phenotype:		ADSX (number of DSM-IV AD symptoms)
Name:		16534506
Method:		Linkage
Publication:		Prescott et al. Mol Psychiatry. (2006) Genomewide linkage study in the Irish affected sib pair study of alcohol dependence: evidence for a susceptibility region for symptoms of alcohol dependence on chromosome 4. PubMed
Summary:		We conducted a genome scan in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD). A 4 cM genome scan was conducted using 474 families of which most (96%) were comprised by affected sib pairs. Nonparametric and quantitative linkage analyses were conducted using DSM-IV alcohol dependence (AD) and number of DSM-IV AD symptoms (ADSX). Quantitative results indicate strong linkage for number of AD criteria to a broad region of chromosome 4, ranging from 4q22 to 4q32 (peak multipoint LOD=4.59, P=2.1 x 10(-6), at D4S1611). We got the gene list in the region between two markers D4S423 and D4S427 as markers between (included) these two markers have LOD scores >2 with P value <0.0003.

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_001203.2	NP_001194.1	NC_000004.10 range: 95898150..96295098

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005887	integral to plasma membrane	Cellular Component	IC (14523231)
GO:0043235	receptor complex	Cellular Component	TAS (14523231)
GO:0005886	plasma membrane	Cellular Component	EXP (17356069)
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	IDA (12065756)
GO:0005024	transforming growth factor beta receptor activity	Molecular Function	IEA
GO:0004872	receptor activity	Molecular Function	IEA
GO:0000287	magnesium ion binding	Molecular Function	IEA
GO:0046332	SMAD binding	Molecular Function	IDA (12065756)
GO:0006468	protein amino acid phosphorylation	Biological Process	IDA (12065756)
GO:0045597	positive regulation of cell differentiation	Biological Process	IMP (14523231)
GO:0001654	eye development	Biological Process	ISS
GO:0042698	ovulation cycle	Biological Process	ISS
GO:0035108	limb morphogenesis	Biological Process	IMP (14523231)
GO:0030509	BMP signaling pathway	Biological Process	NAS (10051328)
GO:0001550	ovarian cumulus expansion	Biological Process	ISS
GO:0001501	skeletal development	Biological Process	IMP (14523231)
GO:0001502	cartilage condensation	Biological Process	NAS (14523231)
GO:0030509	BMP signaling pathway	Biological Process	EXP (15621726)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000138696

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: