Details for: BMPR1B

Gene ID: 658

Symbol: BMPR1B

Ensembl ID: ENSG00000138696

Description: bone morphogenetic protein receptor type 1B

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 98.9184
    Cell Significance Index: -25.0900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 53.8329
    Cell Significance Index: -21.8700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.3518
    Cell Significance Index: -16.0900
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 6.7351
    Cell Significance Index: 94.1800
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 2.0940
    Cell Significance Index: 21.6000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.8998
    Cell Significance Index: 276.1600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.4345
    Cell Significance Index: 31.4100
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.2027
    Cell Significance Index: 13.9800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.9938
    Cell Significance Index: 22.9600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.8424
    Cell Significance Index: 26.9800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.7759
    Cell Significance Index: 13.4200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7307
    Cell Significance Index: 9.9700
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.6419
    Cell Significance Index: 3.9600
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.6385
    Cell Significance Index: 15.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5879
    Cell Significance Index: 75.3700
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.5378
    Cell Significance Index: 5.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.5201
    Cell Significance Index: 330.3400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4714
    Cell Significance Index: 36.1800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.4038
    Cell Significance Index: 9.7800
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.3546
    Cell Significance Index: 3.9400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2820
    Cell Significance Index: 153.9900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2595
    Cell Significance Index: 14.5600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2129
    Cell Significance Index: 42.7100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1778
    Cell Significance Index: 28.9300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1645
    Cell Significance Index: 29.6600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1395
    Cell Significance Index: 96.4800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1114
    Cell Significance Index: 2.9300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0641
    Cell Significance Index: 23.0000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0398
    Cell Significance Index: 7.8900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0034
    Cell Significance Index: 6.3800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0007
    Cell Significance Index: 0.1300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0075
    Cell Significance Index: -11.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0099
    Cell Significance Index: -18.2900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0100
    Cell Significance Index: -13.5800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0259
    Cell Significance Index: -3.1800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0338
    Cell Significance Index: -24.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0347
    Cell Significance Index: -15.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0355
    Cell Significance Index: -26.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0358
    Cell Significance Index: -26.5300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0455
    Cell Significance Index: -28.4200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0481
    Cell Significance Index: -27.1500
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.0664
    Cell Significance Index: -0.7600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0755
    Cell Significance Index: -21.7200
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -0.0806
    Cell Significance Index: -0.6200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0872
    Cell Significance Index: -10.1600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0898
    Cell Significance Index: -10.2800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0935
    Cell Significance Index: -9.2500
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.0940
    Cell Significance Index: -0.5900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0971
    Cell Significance Index: -5.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1103
    Cell Significance Index: -12.0000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1105
    Cell Significance Index: -11.2900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1228
    Cell Significance Index: -16.8700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1246
    Cell Significance Index: -21.2700
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: -0.1307
    Cell Significance Index: -0.9500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1342
    Cell Significance Index: -28.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1399
    Cell Significance Index: -4.0300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1408
    Cell Significance Index: -2.9200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1525
    Cell Significance Index: -4.0900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1845
    Cell Significance Index: -23.8400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2138
    Cell Significance Index: -22.2600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2318
    Cell Significance Index: -6.3100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2413
    Cell Significance Index: -4.4600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2462
    Cell Significance Index: -11.1600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.2511
    Cell Significance Index: -1.4900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.2627
    Cell Significance Index: -18.1700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2673
    Cell Significance Index: -7.4700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2970
    Cell Significance Index: -22.1400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3042
    Cell Significance Index: -18.7000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3138
    Cell Significance Index: -21.1000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3145
    Cell Significance Index: -24.9100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3675
    Cell Significance Index: -23.1600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3735
    Cell Significance Index: -9.6000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4233
    Cell Significance Index: -22.0500
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.4237
    Cell Significance Index: -4.9200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4360
    Cell Significance Index: -26.7300
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: -0.4586
    Cell Significance Index: -4.1800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4596
    Cell Significance Index: -21.6000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.4850
    Cell Significance Index: -25.4700
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.5113
    Cell Significance Index: -8.2500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5409
    Cell Significance Index: -18.9500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5509
    Cell Significance Index: -9.4400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.5509
    Cell Significance Index: -7.8900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5609
    Cell Significance Index: -24.8100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5708
    Cell Significance Index: -26.6200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5965
    Cell Significance Index: -14.9100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.6028
    Cell Significance Index: -13.0600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6355
    Cell Significance Index: -22.0900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.6389
    Cell Significance Index: -33.1900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.6420
    Cell Significance Index: -12.5300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.6423
    Cell Significance Index: -10.1900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.6576
    Cell Significance Index: -24.1400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6700
    Cell Significance Index: -25.3700
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.6746
    Cell Significance Index: -7.1400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6765
    Cell Significance Index: -22.1500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.6837
    Cell Significance Index: -24.0300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6919
    Cell Significance Index: -20.3800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7140
    Cell Significance Index: -22.7400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.7243
    Cell Significance Index: -20.6700
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.7385
    Cell Significance Index: -9.5100
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.7448
    Cell Significance Index: -9.5500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** BMPR1B is a type I receptor of the BMP/TGF-β superfamily, characterized by its ability to bind to BMPs and activate downstream signaling pathways. It is a transmembrane receptor, consisting of an extracellular domain, a transmembrane domain, and an intracellular domain. The extracellular domain contains the ligand-binding site, while the intracellular domain contains the kinase domain and the phosphorylation sites. BMPR1B is highly expressed in various tissues, including bone, cartilage, and the central nervous system. **Pathways and Functions** BMPR1B mediates the effects of BMPs through the activation of two distinct signaling pathways: 1. **Smad-dependent pathway**: BMPR1B activates the Smad-dependent pathway, which involves the phosphorylation and activation of Smad proteins. Smad proteins then translocate to the nucleus, where they regulate the expression of target genes. 2. **Smad-independent pathway**: BMPR1B also activates the Smad-independent pathway, which involves the activation of transcription factors, such as MAPK and PI3K/AKT. BMPR1B plays a crucial role in various cellular processes, including: * **Bone development and homeostasis**: BMPR1B regulates bone formation and resorption, and its dysregulation can lead to bone disorders, such as osteoporosis and bone cancer. * **Cartilage development and maintenance**: BMPR1B regulates cartilage development and maintenance, and its dysregulation can lead to cartilage disorders, such as osteoarthritis. * **Neurological development and function**: BMPR1B regulates neuronal development and function, and its dysregulation can lead to neurological disorders, such as Alzheimer's disease and amyotrophic lateral sclerosis. * **Cell differentiation and proliferation**: BMPR1B regulates cell differentiation and proliferation, and its dysregulation can lead to cancer and other diseases. **Clinical Significance** Dysregulation of BMPR1B has been implicated in several diseases, including: * **Bone disorders**: Osteoporosis, bone cancer, and other bone-related disorders. * **Cancer**: BMPR1B is overexpressed in various types of cancer, including breast, lung, and colon cancer. * **Neurological disorders**: Alzheimer's disease, amyotrophic lateral sclerosis, and other neurological disorders. * **Cardiovascular disease**: BMPR1B is involved in the regulation of cardiovascular development and function. In conclusion, BMPR1B is a critical regulator of various cellular processes, including bone development, cartilage maintenance, and neurological function. Its dysregulation has been implicated in several diseases, highlighting the importance of BMPR1B in human health and disease.

Genular Protein ID: 631899857

Symbol: BMR1B_HUMAN

Name: Bone morphogenetic protein receptor type-1B

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.