Details for: BMPR1B

Gene ID: 658

Symbol: BMPR1B

Ensembl ID: ENSG00000138696

Description: bone morphogenetic protein receptor type 1B

Associated with

Other Information

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. 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.