Details for: BMPR1B

Gene ID: 658

Symbol: BMPR1B

Ensembl ID: ENSG00000138696

Description: bone morphogenetic protein receptor type 1B

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 7.4
    Marker Score: 10407
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 4.24
    Marker Score: 3661
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 4.22
    Marker Score: 1393
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 3.67
    Marker Score: 2415
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.56
    Marker Score: 30106
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 3.34
    Marker Score: 2576.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 3.1
    Marker Score: 66227
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.27
    Marker Score: 4373
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.05
    Marker Score: 1775
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.04
    Marker Score: 586.5
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.74
    Marker Score: 2170
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.72
    Marker Score: 502
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.68
    Marker Score: 940
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.66
    Marker Score: 5578
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.65
    Marker Score: 3135
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.65
    Marker Score: 4167
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.63
    Marker Score: 515
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.59
    Marker Score: 1157
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.56
    Marker Score: 52534
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167852
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.45
    Marker Score: 1443
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.4
    Marker Score: 673
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 1.37
    Marker Score: 498
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.35
    Marker Score: 859
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.29
    Marker Score: 682
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.29
    Marker Score: 373
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.28
    Marker Score: 745
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 845
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.19
    Marker Score: 2429.5
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.15
    Marker Score: 2101
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.15
    Marker Score: 17919
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.14
    Marker Score: 429.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4777
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.13
    Marker Score: 2214
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.12
    Marker Score: 776
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.08
    Marker Score: 1308
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.08
    Marker Score: 1258
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.04
    Marker Score: 625
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.02
    Marker Score: 1401
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.01
    Marker Score: 418
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71772
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 1
    Marker Score: 759
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47997
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.99
    Marker Score: 1406
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.95
    Marker Score: 436
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 0.95
    Marker Score: 251
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5271
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2730
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.9
    Marker Score: 301
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.89
    Marker Score: 441
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.89
    Marker Score: 226
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.87
    Marker Score: 1521
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5272
  • Cell Name: tracheobronchial goblet cell (CL0019003)
    Fold Change: 0.86
    Marker Score: 237
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.86
    Marker Score: 659.5
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.8
    Marker Score: 861
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.79
    Marker Score: 269
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.78
    Marker Score: 320
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1252
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.77
    Marker Score: 435
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 692
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.76
    Marker Score: 199
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.74
    Marker Score: 680
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7
    Marker Score: 12340
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.69
    Marker Score: 793
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.68
    Marker Score: 195
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.67
    Marker Score: 1584
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.67
    Marker Score: 214
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.66
    Marker Score: 214
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.66
    Marker Score: 36998
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.66
    Marker Score: 374
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.65
    Marker Score: 1083
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.64
    Marker Score: 427
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.63
    Marker Score: 163
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.63
    Marker Score: 415
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.63
    Marker Score: 401
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.58
    Marker Score: 278
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.58
    Marker Score: 1121
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.57
    Marker Score: 180
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.57
    Marker Score: 458
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.57
    Marker Score: 240
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.56
    Marker Score: 194
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.56
    Marker Score: 1922
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.56
    Marker Score: 206
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.55
    Marker Score: 5581
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.55
    Marker Score: 249
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.54
    Marker Score: 18870
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.54
    Marker Score: 483
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.54
    Marker Score: 138
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.54
    Marker Score: 694
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.54
    Marker Score: 4666

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Other Information

**Key characteristics:** - BMPR1B is a transmembrane protein with a molecular weight of approximately 145 kDa. - It is a key regulator of cartilage condensation and is expressed in chondrocytes, the cells responsible for cartilage production. - It is also involved in embryonic development, where it plays a role in the formation of the central and peripheral nervous systems. **Pathways and functions:** - BMPR1B is a key regulator of bone development. It is expressed in proliferating bone cells and is necessary for their differentiation into mature bone cells. - It also plays a role in the regulation of cartilage metabolism and is involved in the development of the skeletal and cardiovascular systems. - In addition, BMPR1B is involved in embryonic development, where it is expressed in the developing nervous system. - It is also involved in the regulation of reproductive cell migration and differentiation. **Clinical significance:** - Mutations in BMPR1B have been linked to several human diseases, including osteoporosis, chondrodysplasia, and developmental disorders. - In osteoporosis, mutations in BMPR1B can lead to the formation of weak and brittle bones, which can result in fractures. - In chondrodysplasia, mutations in BMPR1B can lead to the formation of cartilage defects, which can also lead to developmental disorders. **Additional notes:** - BMPR1B is a highly conserved protein, with similar sequences found in mammals. - It is a key target for therapeutic interventions in osteoporosis and other diseases that are characterized by bone or cartilage abnormalities.

Genular Protein ID: 631899857

Symbol: BMR1B_HUMAN

Name: Bone morphogenetic protein receptor type-1B

UniProtKB Accession Codes:

O00238 B2R953 B4DSV1 P78366

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CPTAC 2 CTD 1 ChEBI 14 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 2 EMBL 12 Ensembl 7 EvolutionaryTrace 1 ExpressionAtlas 1 GO 39 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRINTS 1 PRO 1 PROSITE 4 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 9 Rhea 8 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9178898

Title: Cloning of human bone morphogenetic protein type IB receptor (BMPR-IB) and its expression in prostate cancer in comparison with other BMPRs.

PubMed ID: 9178898

DOI: 10.1038/sj.onc.1200964

PubMed ID: 10051328

Title: Chromosomal localization of three human genes encoding bone morphogenetic protein receptors.

PubMed ID: 10051328

DOI: 10.1007/s003359900990

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21791611

Title: TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity.

PubMed ID: 21791611

DOI: 10.1128/mcb.05448-11

PubMed ID: 24098149

Title: A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.

PubMed ID: 24098149

DOI: 10.1371/journal.pgen.1003846

PubMed ID: 33308444

Title: SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

PubMed ID: 33308444

DOI: 10.1016/j.ajhg.2020.11.015

PubMed ID: 14523231

Title: Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

PubMed ID: 14523231

DOI: 10.1073/pnas.2133476100

PubMed ID: 15805157

Title: A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.

PubMed ID: 15805157

DOI: 10.1136/jmg.2004.023564

PubMed ID: 16957682

Title: A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

PubMed ID: 16957682

DOI: 10.1038/sj.ejhg.5201708

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 24129431

Title: Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe.

PubMed ID: 24129431

DOI: 10.1038/ejhg.2013.222

PubMed ID: 25758993

Title: Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

PubMed ID: 25758993

DOI: 10.1038/ejhg.2015.38

PubMed ID: 26105076

Title: A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia.

PubMed ID: 26105076

DOI: 10.1186/s13023-015-0299-5

Sequence Information:

  • Length: 502
  • Mass: 56930
  • Checksum: B283D9BF45535C79
  • Sequence:
    • MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED 
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD 
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI 
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS 
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS 
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD 
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV 
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRWSSD ECLRQMGKLM TECWAHNPAS 
RLTALRVKKT LAKMSESQDI KL

Genular Protein ID: 1677255775

Symbol: A8KAE3_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8KAE3

Database IDs:

ARBA 12 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 3 DNASU 1 EMBL 2 GO 11 Gene3D 2 GenomeRNAi 1 InterPro 9 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 3 RefSeq 1 SAM 2 SMART 2 SUPFAM 2

Sequence Information:

  • Length: 502
  • Mass: 56828
  • Checksum: EA53D9BF45574A08
  • Sequence:
    • MLLRSAGKLN VGTKKEDGES TAPTPRPKVL RCKCHHHCPE DSVNNICSTD GYCFTMIEED 
DSGLPVVTSG CLGLEGSDFQ CRDTPIPHQR RSIECCTERN ECNKDLHPTL PPLKNRDFVD 
GPIHHRALLI SVTVCSLLLV LIILFCYFRY KRQETRPRYS IGLEQDETYI PPGESLRDLI 
EQSQSSGSGS GLPLLVQRTI AKQIQMVKQI GKGRYGEVWM GKWRGEKVAV KVFFTTEEAS 
WFRETEIYQT VLMRHENILG FIAADIKGTG SWTQLYLITD YHENGSLYDY LKSTTLDAKS 
MLKLAYSSVS GLCHLHTEIF STQGKPAIAH RDLKSKNILV KKNGTCCIAD LGLAVKFISD 
TNEVDIPPNT RVGTKRYMPP EVLDESLNRN HFQSYIMADM YSFGLILWEV ARRCVSGGIV 
EEYQLPYHDL VPSDPSYEDM REIVCIKKLR PSFPNRRSSD ECLRQMGKLM TGCWAHNPAS 
RLTALRVKKT LAKMSESQDI KL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.