Basic gene Info. | Gene symbol | BMPR1B |
Gene name | bone morphogenetic protein receptor, type IB |
Synonyms | ALK-6|ALK6|CDw293 |
Cytomap | UCSC genome browser: 4q22-q24 |
Type of gene | protein-coding |
RefGenes | NM_001203.2, NM_001256792.1,NM_001256793.1,NM_001256794.1, |
Description | BMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor type-1Bserine/threonine receptor kinase |
Modification date | 20141207 |
dbXrefs | MIM : 603248 |
HGNC : HGNC |
Ensembl : ENSG00000138696 |
HPRD : 04457 |
Vega : OTTHUMG00000130991 |
Protein | UniProt: O00238 go to UniProt's Cross Reference DB Table |
Expression | CleanEX: HS_BMPR1B |
BioGPS: 658 |
Pathway | NCI Pathway Interaction Database: BMPR1B |
KEGG: BMPR1B |
REACTOME: BMPR1B |
Pathway Commons: BMPR1B |
Context | iHOP: BMPR1B |
ligand binding site mutation search in PubMed: BMPR1B |
UCL Cancer Institute: BMPR1B |
Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. |
References showing study about ligand binding site mutation for BMPR1B. | 1. "Demirhan O, Türkmen S, Schwabe GC, Soyupak S, Akgül E, Tastemir D, Karahan D, Mundlos S, Lehmann K. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. J Med Genet. 2005 Apr;42(4):314-7. PubMed PMID: 15805157; PubMed Central PMCID: PMC1736042. " 15805157 2. "Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. Eur J Hum Genet. 2014 Jun;22(6):726-33. doi: 10.1038/ejhg.2013.222. Epub 2013 Oct 16. PubMed PMID:24129431; PubMed Central PMCID: PMC4023204." 24129431 3. "Stange K, Désir J, Kakar N, Mueller TD, Budde BS, Gordon CT, Horn D, Seemann P, Borck G. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. Orphanet J Rare Dis. 2015 Jun 24;10:84. doi: 10.1186/s13023-015-0299-5. PubMed PMID: 26105076; PubMed Central PMCID: PMC4482310. " 26105076
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LBS | AA sequence | # species | Species |
A229 | RGEKVAVKVFF | 3 | Homo sapiens, Gallus gallus, Mus musculus | A229 | RGSYVAVKTFY | 1 | Caenorhabditis elegans | A349 | GTCCIADLGLA | 3 | Homo sapiens, Gallus gallus, Mus musculus | A349 | NVCCIADLGLA | 1 | Caenorhabditis elegans | D280 | LYLITDYHENG | 3 | Homo sapiens, Gallus gallus, Mus musculus | D280 | MLLITDYHELG | 1 | Caenorhabditis elegans | D289 | NGSLYDYL-KS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D289 | LGSLSDYLCRE | 1 | Caenorhabditis elegans | D350 | TCCIADLGLAV | 3 | Homo sapiens, Gallus gallus, Mus musculus | D350 | VCCIADLGLAL | 1 | Caenorhabditis elegans | E283 | ITDYHENGSLY | 3 | Homo sapiens, Gallus gallus, Mus musculus | E283 | ITDYHELGSLS | 1 | Caenorhabditis elegans | G285 | DYHENGSLYDY | 3 | Homo sapiens, Gallus gallus, Mus musculus | G285 | DYHELGSLSDY | 1 | Caenorhabditis elegans | H282 | LITDYHENGSL | 3 | Homo sapiens, Gallus gallus, Mus musculus | H282 | LITDYHELGSL | 1 | Caenorhabditis elegans | I210 | QMVKQIGKGRY | 3 | Homo sapiens, Gallus gallus, Mus musculus | I210 | TIIKTIGQGRY | 1 | Caenorhabditis elegans | K336 | RDLKSKNILVK | 3 | Homo sapiens, Gallus gallus, Mus musculus | K336 | RDIKSKNIIVK | 1 | Caenorhabditis elegans | L259 | RHENILGFIAA | 3 | Homo sapiens, Gallus gallus, Mus musculus | L259 | NHENILQFVAA | 1 | Caenorhabditis elegans | L339 | KSKNILVKKNG | 3 | Homo sapiens, Gallus gallus, Mus musculus | L339 | KSKNIIVKRPN | 1 | Caenorhabditis elegans | N337 | DLKSKNILVKK | 3 | Homo sapiens, Gallus gallus, Mus musculus | N337 | DIKSKNIIVKR | 1 | Caenorhabditis elegans | T279 | QLYLITDYHEN | 3 | Homo sapiens, Gallus gallus, Mus musculus | T279 | KMLLITDYHEL | 1 | Caenorhabditis elegans | V218 | GRYGEVWMGKW | 3 | Homo sapiens, Gallus gallus, Mus musculus | V218 | GRYGEVRKALY | 1 | Caenorhabditis elegans | Y281 | YLITDYHENGS | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y281 | LLITDYHELGS | 1 | Caenorhabditis elegans |