• Gene id: 658

Gene Summary

• Gene Symbol: BMPR1B   Gene   UCSC   Ensembl
• Aliases: ALK-6, ALK6, AMDD, BDA1D, BDA2, CDw293
• Gene name: bone morphogenetic protein receptor type 1B
• Alternate names: bone morphogenetic protein receptor type-1B, BMP type-1B receptor, BMPR-1B, activin receptor-like kinase 6, bone morphogenetic protein receptor, type IB, serine/threonine receptor kinase,
• Gene location: 4q22.3 (94757954: 95158452)     Exons: 19     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone form
• OMIM: 603248

SNPs

rs3743104

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.32731784A>C
NC_000015.10   g.32731784A>G
NC_000015.10   g.32731784A>T
NC_000015.9   g.33023985A>C
NC_000015.9   g.33023985A>G
NC_000015.9   g.33023985A>T
NG_033791.1   g.18781A>C
NG_033791.1   g.18781A>G
NG_033791.1   g.18781A>T
NG_033791.2   g.18781A>C

Protein Summary

Gene ontology

GO accession	Term name	Evidence code	Go category

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04360	Axon guidance
hsa05418	Fluid shear stress and atherosclerosis

Diseases

Associated diseases	References
Hypertension	GAD: 22384028
Brachydactyly	KEGG: H00482
Juvenile polyposis	GAD: 15235019
Attention deficit hyperactivity disorder (ADHD)	GAD: 20732626
Endometriosis	INFBASE: 24339876
Acromesomelic dysplasia with genital anomalies	KEGG: H00468
Acromesomelic dysplasia	OMIM: 603248
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male infertility	MIK: 29581481
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29581481	Male infertility	(BMPR1B) c.640C>T (p.(Arg214Cys)), (PDHA2) c.679A>G (p.(Met227Val))			Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881