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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	658
Gene name	Bone morphogenetic protein receptor type 1B
Gene symbol	BMPR1B
Synonyms (NCBI Gene)	ALK-6ALK6AMD3AMDDBDA1DBDA2CDw293
Chromosome	4
Chromosome location	4q22.3
Summary	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 assayqRT-PCRWestern blot	28214897
MIRT000346	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern 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 assayqRT-PCRImmunoprecipitaion (IP)	38851743
MIRT756479	hsa-miR-375	Luciferase reporter assayqRT-PCRImmunoprecipitaion (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 (76)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001502	Process	Cartilage condensation	IEA
GO:0001550	Process	Ovarian cumulus expansion	IEA
GO:0001550	Process	Ovarian cumulus expansion	ISS
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	IMP	28214897
GO:0001654	Process	Eye development	IEA
GO:0001654	Process	Eye development	ISS
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0002063	Process	Chondrocyte development	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	12065756
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	IEA
GO:0004675	Function	Transmembrane receptor protein serine/threonine kinase activity	NAS	10051328
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	18184661
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IBA
GO:0005025	Function	Transforming growth factor beta receptor activity, type I	IEA
GO:0005515	Function	Protein binding	IPI	10854429, 11266516, 11279102, 11549681, 16127465, 19229295, 21791611, 21976273, 24098149, 24904118, 33308444
GO:0005524	Function	ATP binding	IDA	12065756
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006954	Process	Inflammatory response	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IBA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	28214897
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030166	Process	Proteoglycan biosynthetic process	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IMP	18436533
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	12065756, 18184661, 18436533
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	NAS	10051328
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	ISS
GO:0036122	Function	BMP binding	IEA
GO:0036122	Function	BMP binding	IPI	18184661
GO:0042698	Process	Ovulation cycle	IEA
GO:0042698	Process	Ovulation cycle	ISS
GO:0043010	Process	Camera-type eye development	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043235	Component	Receptor complex	TAS	14523231
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	18436533
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	18326817
GO:0046332	Function	SMAD binding	IDA	12065756
GO:0046332	Function	SMAD binding	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060348	Process	Bone development	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
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0071773	Process	Cellular response to BMP stimulus	IMP	18326817
GO:0098821	Function	BMP receptor activity	IDA	12065756
GO:0098821	Function	BMP receptor activity	IEA
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
GO:1990712	Component	HFE-transferrin receptor complex	IEA

MIM	HGNC	e!Ensembl
603248	1077	ENSG00000138696

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

558

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acromesomelic dysplasia 2B	Pathogenic	rs1553941890	RCV000519599
Acromesomelic dysplasia 2C, Hunter-Thompson type	Likely pathogenic	rs1734835445	RCV001291418
Acromesomelic dysplasia 3	Pathogenic; Likely pathogenic	rs863225041, rs863225042, rs745854387, rs121434418, rs863223287, rs2530214673, rs1560671891, rs1553941890, rs1177728492	RCV000201167 RCV000201044 RCV000201128 RCV005222670 RCV000006935 RCV003782784 RCV003789107 RCV000519599 RCV000850360
BMPR1B-related disorder	Likely pathogenic	rs121434419	RCV003398455
Brachydactyly type A1D	Pathogenic	rs869025613, rs869025614, rs1553941890	RCV000208781 RCV000208782 RCV000519599
Type A2 brachydactyly	Likely pathogenic; Pathogenic	rs121434417, rs121434418, rs121434419, rs2530214673, rs1560671891, rs1553941890	RCV000006933 RCV000006934 RCV000006936 RCV003782784 RCV003789107 RCV000519599

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Brachydactyly	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	rs781670372, rs138801821, rs112333283, rs200035802, rs56083112, rs200198618, rs577188671, rs201359647, rs6813320, rs374115313, rs886059733, rs183245717, rs886059736, rs17023107, rs548956012 View all (106 more)	RCV001825035 RCV000276420 RCV000300815 RCV000263624 RCV000275106 RCV000384921 RCV000379873 RCV000390661 RCV000334745 RCV000404712 RCV000272523 RCV000324519 RCV000376819 RCV000284519 RCV000336173 RCV000315314 RCV000406513 RCV000366628 RCV000260304 RCV000345374 RCV000353318 RCV000388174 RCV000355018 RCV000328112 RCV000288161 RCV000283012 RCV000313256 RCV000370812 RCV000273899 RCV000312536 RCV000382252 RCV000278871 RCV000406242 RCV000397368 RCV000358691 RCV000268572 RCV000355066 RCV000404488 RCV000318020 RCV000289172 RCV000384479 RCV000316617 RCV000333918 RCV000386085 RCV000364898 RCV000345525 RCV000340460 RCV000266705 RCV000337182 RCV000325193 RCV000375702 RCV000309563 RCV000308623 RCV000349118 RCV000323732 RCV000319980 RCV000374607 RCV000330598 RCV000389527 RCV000295141 RCV000407842 RCV000294259 RCV000302359 RCV000361280 RCV000291791 RCV000346765 RCV000405833 RCV000298393 RCV000262853 RCV000333653 RCV000367984 RCV000290109 RCV000273390 RCV000325408 RCV000340418 RCV000390862 RCV001157561 RCV001153368 RCV001153262 RCV001153263 RCV001153264 RCV001155857 RCV001155858 RCV001155859 RCV001155861 RCV001155862 RCV001157560 RCV001157562 RCV001157563 RCV001157564 RCV001152098 RCV001152099 RCV001153367 RCV001153369 RCV001155974 RCV001157684 RCV001157685 RCV001157686 RCV001152207 RCV001152208 RCV001152209 RCV001153494 RCV001153495 RCV001153496 RCV001156094 RCV001156095 RCV001156096 RCV001156097 RCV001156098 RCV001157785 RCV001157786 RCV001157787 RCV001152309 RCV001152310 RCV001153594 RCV001153595 RCV001156209 RCV001157885 RCV001157886 RCV001157887 RCV001157888 RCV001153261 RCV001155860
Idiopathic pulmonary arterial hypertension	Conflicting classifications of pathogenicity	rs150974461	RCV001683739
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs777745046, rs868257514	RCV005925643 RCV005913929
Premature ovarian insufficiency	Uncertain significance	rs185062260	RCV000766164
Pulmonary arterial hypertension	Conflicting classifications of pathogenicity; Uncertain significance	rs373000965, rs201034260	RCV005361769 RCV005355919
Pulmonary arterial hypertension associated with congenital heart disease	Uncertain significance	rs141691706	RCV000664165
Pulmonary hypertension, primary, 3	Uncertain significance	rs757312834	RCV000625922

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)