Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	658
Gene name Gene Name - the full gene name approved by the HGNC.	Bone morphogenetic protein receptor type 1B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BMPR1B
Synonyms (NCBI Gene) Gene synonyms aliases	ALK-6, ALK6, AMD3, AMDD, BDA1D, BDA2, CDw293
Disease Acronyms (UniProt) Disease acronyms from UniProt database	AMD3, BDA1D, BDA2
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434417	T>A	Pathogenic	Missense variant, coding sequence variant
rs121434418	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434419	G>A	Pathogenic	Missense variant, coding sequence variant
rs745854387	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs775608689	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs863223287	GGACCTAT>-	Pathogenic	Frameshift variant, coding sequence variant
rs863225041	T>C	Pathogenic	Coding sequence variant, missense variant
rs863225042	G>A	Pathogenic	Stop gained, coding sequence variant
rs869025613	G>A	Pathogenic	Splice acceptor variant
rs869025614	A>C	Pathogenic	Coding sequence variant, missense variant
rs1057521819	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1177728492	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553941890	C>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assay	19738052
MIRT052538	hsa-let-7a-5p	CLASH	23622248
MIRT438479	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT438479	hsa-miR-22-3p	Luciferase reporter assay	24163368
MIRT661595	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT661594	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT661593	hsa-miR-4705	HITS-CLIP	23824327
MIRT661592	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT661591	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	28214897
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	28214897
MIRT661595	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT661594	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT661593	hsa-miR-4705	HITS-CLIP	23824327
MIRT661592	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT661591	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT756476	hsa-miR-136-3p	Luciferase reporter assay, qRT-PCR, Immunoprecipitaion (IP)	38851743
MIRT756479	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Immunoprecipitaion (IP)	38851743
MIRT822831	hsa-miR-1297	CLIP-seq
MIRT822832	hsa-miR-140-3p	CLIP-seq
MIRT822833	hsa-miR-186	CLIP-seq
MIRT822834	hsa-miR-205	CLIP-seq
MIRT822835	hsa-miR-26a	CLIP-seq
MIRT822836	hsa-miR-26b	CLIP-seq
MIRT822837	hsa-miR-302f	CLIP-seq
MIRT822838	hsa-miR-3125	CLIP-seq
MIRT822839	hsa-miR-3160-5p	CLIP-seq
MIRT822840	hsa-miR-3163	CLIP-seq
MIRT822841	hsa-miR-3175	CLIP-seq
MIRT822842	hsa-miR-329	CLIP-seq
MIRT822843	hsa-miR-339-5p	CLIP-seq
MIRT822844	hsa-miR-3607-3p	CLIP-seq
MIRT822845	hsa-miR-362-3p	CLIP-seq
MIRT822846	hsa-miR-3916	CLIP-seq
MIRT822847	hsa-miR-3938	CLIP-seq
MIRT822848	hsa-miR-3941	CLIP-seq
MIRT822849	hsa-miR-4272	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT822851	hsa-miR-4317	CLIP-seq
MIRT822852	hsa-miR-4465	CLIP-seq
MIRT822853	hsa-miR-4639-5p	CLIP-seq
MIRT822854	hsa-miR-4659a-3p	CLIP-seq
MIRT822855	hsa-miR-4659b-3p	CLIP-seq
MIRT822856	hsa-miR-4719	CLIP-seq
MIRT822857	hsa-miR-4729	CLIP-seq
MIRT822858	hsa-miR-4775	CLIP-seq
MIRT822859	hsa-miR-4786-3p	CLIP-seq
MIRT822860	hsa-miR-4789-3p	CLIP-seq
MIRT822861	hsa-miR-4789-5p	CLIP-seq
MIRT822862	hsa-miR-548aa	CLIP-seq
MIRT822863	hsa-miR-603	CLIP-seq
MIRT822864	hsa-miR-670	CLIP-seq
MIRT822834	hsa-miR-205	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT822851	hsa-miR-4317	CLIP-seq
MIRT822854	hsa-miR-4659a-3p	CLIP-seq
MIRT822855	hsa-miR-4659b-3p	CLIP-seq
MIRT1943254	hsa-miR-4708-5p	CLIP-seq
MIRT822856	hsa-miR-4719	CLIP-seq
MIRT822858	hsa-miR-4775	CLIP-seq
MIRT2181997	hsa-miR-1237	CLIP-seq
MIRT2181998	hsa-miR-1248	CLIP-seq
MIRT2181999	hsa-miR-3185	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT822851	hsa-miR-4317	CLIP-seq
MIRT822856	hsa-miR-4719	CLIP-seq
MIRT2182000	hsa-miR-4795-3p	CLIP-seq
MIRT2182001	hsa-miR-651	CLIP-seq
MIRT2384823	hsa-miR-3121-5p	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT2384824	hsa-miR-634	CLIP-seq
MIRT2444839	hsa-miR-3658	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT2444840	hsa-miR-4426	CLIP-seq
MIRT2444841	hsa-miR-4647	CLIP-seq
MIRT2444842	hsa-miR-4662b	CLIP-seq
MIRT2444843	hsa-miR-567	CLIP-seq
MIRT2444839	hsa-miR-3658	CLIP-seq
MIRT822850	hsa-miR-4307	CLIP-seq
MIRT2444840	hsa-miR-4426	CLIP-seq
MIRT2444841	hsa-miR-4647	CLIP-seq
MIRT2444842	hsa-miR-4662b	CLIP-seq
MIRT2444843	hsa-miR-567	CLIP-seq

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IMP	14523231
GO:0001502	Process	Cartilage condensation	NAS	14523231
GO:0001550	Process	Ovarian cumulus expansion	ISS
GO:0001654	Process	Eye development	ISS
GO:0002063	Process	Chondrocyte development	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IMP	14523231
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	NAS	10051328
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11266516, 11279102, 16127465, 18184661, 19229295, 21976273, 24098149, 24904118
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IC	14523231
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IDA	12065756
GO:0006954	Process	Inflammatory response	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA	21873635
GO:0030166	Process	Proteoglycan biosynthetic process	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IMP	18436533
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0030509	Process	BMP signaling pathway	IDA	18436533
GO:0030509	Process	BMP signaling pathway	NAS	10051328
GO:0030509	Process	BMP signaling pathway	TAS
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	ISS
GO:0035108	Process	Limb morphogenesis	IMP	14523231
GO:0042698	Process	Ovulation cycle	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043235	Component	Receptor complex	TAS	14523231
GO:0045597	Process	Positive regulation of cell differentiation	IMP	14523231
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	18436533
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18326817
GO:0046332	Function	SMAD binding	IBA	21873635
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046872	Function	Metal ion binding	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060350	Process	Endochondral bone morphogenesis	ISS
GO:0061036	Process	Positive regulation of cartilage development	ISS
GO:0071363	Process	Cellular response to growth factor stimulus	IBA	21873635
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:1902043	Process	Positive regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:1902731	Process	Negative regulation of chondrocyte proliferation	ISS
GO:1990712	Component	HFE-transferrin receptor complex	IC	24904118

MIM	HGNC	e!Ensembl
603248	1077	ENSG00000138696

Protein

UniProt ID

O00238

Protein name

Bone morphogenetic protein receptor type-1B (BMP type-1B receptor) (BMPR-1B) (EC 2.7.11.30) (CD antigen CDw293)

Protein function

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD trans

PDB

3MDY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01064	Activin_recp	30 → 106	Activin types I and II receptor domain	Domain
PF08515	TGF_beta_GS	175 → 202	Transforming growth factor beta type I GS-motif	Family
PF07714	PK_Tyr_Ser-Thr	204 → 491	Protein tyrosine and serine/threonine kinase	Domain

Sequence

MLLRSAGKLNVGTKKEDGESTAPTPRPKVLRCKCHHHCPEDSVNNICSTDGYCFTMIEED
DSGLPVVTSGCLGLEGSDFQCRDTPIPHQRRSIECCTERNECNKDLHPTLPPLKNRDFVD
GPIHHRALLISVTVCSLLLVLIILFCYFRYKRQETRPRYSIGLEQDETYIPPGESLRDLI
EQSQSSGSGSGLPLLVQRTIAKQIQMVKQIGKGRYGEVWMGKWRGEKVAVKVFFTTEEAS
WFRETEIYQTVLMRHENILGFIAADIKGTGSWTQLYLITDYHENGSLYDYLKSTTLDAKS
MLKLAYSSVSGLCHLHTEIFSTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVKFISD
TNEVDIPPNTRVGTKRYMPPEVLDESLNRNHFQSYIMADMYSFGLILWEVARRCVSGGIV
EEYQLPYHDLVPSDPSYEDMREIVCIKKLRPSFPNRWSSDECLRQMGKLMTECWAHNPAS
RLTALRVKKTLAKMSESQDIKL

Sequence length

502

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction Hormone signaling TGF-beta signaling pathway Axon guidance Hippo signaling pathway Signaling pathways regulating pluripotency of stem cells Fluid shear stress and atherosclerosis		Signaling by BMP

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Acromesomelic dysplasia	Acromesomelic dysplasia Hunter-Thompson type, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, Acromesomelic dysplasia, Grebe type	rs863223287, rs28936683, rs121909350, rs121909351, rs28931582, rs28929479, rs121912739, rs879255257, rs863225041, rs863225042, rs745854387, rs1057519324, rs1057519335, rs1057519334, rs1057519333 View all (12 more)	29322508, 15805157, 26105076, 24129431
Brachydactyly	Brachydactyly, Brachydactyly syndrome type C, BRACHYDACTYLY, TYPE A2, Brachydactyly type C, BRACHYDACTYLY, TYPE A1 (disorder), BRACHYDACTYLY, TYPE A1, D, Brachydactyly type A1, Brachydactyly type A2	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)	16957682, 14523231, 18203755, 25758993
Chondrodysplasia punctata	Chondrodysplasia, Grebe type, Chondrodysplasia, acromesomelic, with genital anomalies	rs80338714, rs398122843, rs121434599, rs121434604, rs2107055197, rs2089231699	24129431, 15805157
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	29212778
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802 View all (244 more)
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Pulmonary arterial hypertension	Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424 View all (116 more)	22374147
Pulmonary hypertension	Idiopathic pulmonary hypertension	rs5030847, rs5030850, rs753751183, rs121912592, rs121912593, rs121912596, rs121918359, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852747, rs137852748 View all (349 more)	22374147
Sarcoma	Sarcoma	rs11540652, rs104886003, rs137852790, rs1555927374
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	30470734
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder	GWAS
Hypertension	Hypertension	GWAS
Metabolic Syndrome	Metabolic Syndrome	GWAS

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining
Acromesomelic dysplasia	Associate	15805157, 26105076, 29322508, 29581481
Adenoma	Associate	18008360
Brachydactyly	Associate	29581481, 33486847
Brachydactyly type A2	Associate	15805157, 16014698, 33486847
Breast Neoplasms	Associate	19738052, 26684357
Carotid Artery Diseases	Associate	30713213
Cell Transformation Neoplastic	Associate	37644609
Chondrodysplasia Grebe type	Associate	26105076
Cleft Palate	Associate	31063268
Colorectal Neoplasms	Associate	21387313, 37373155
COVID 19	Associate	33453462
digital ulcers	Associate	29581481
Endometrial Neoplasms	Associate	35404759, 35854199
Endometriosis	Associate	24339876
Esophageal Neoplasms	Associate	34725559
Fibular hypoplasia and complex brachydactyly	Associate	26105076
Glioma	Associate	33116227
Infertility Male	Associate	29581481
Inflammation	Inhibit	29367682
Leiomyoma	Associate	21084396
Lung Neoplasms	Associate	23593444
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	26105076
Nasal Polyps	Associate	29367682
Neoplasm Metastasis	Associate	35404759
Neoplasms	Associate	23091610, 34725559, 36099812, 37392167, 37644609
Neoplasms	Inhibit	24339876
Osteoporosis	Associate	22957024
Ovarian Diseases	Associate	26805635, 39595984
Ovarian Neoplasms	Inhibit	24339876
Ovarian Neoplasms	Associate	34224310
Pierre Robin Syndrome	Associate	28418932
Polycystic Ovary Syndrome	Associate	32574161
Polyps	Stimulate	29367682
Primary Ovarian Insufficiency	Associate	36099812, 39595984
Prostatic Neoplasms	Associate	25371445
Prune Belly Syndrome	Associate	29174092
Pulmonary Arterial Hypertension	Stimulate	19324947
Pulmonary Arterial Hypertension	Associate	35346192
Rhinitis Allergic	Associate	33596578
Urogenital Abnormalities	Associate	15805157, 26105076

BMPR1B (bone morphogenetic protein receptor type 1B)