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BMPR1B Gene(Protein Coding)

Bone Morphogenetic Protein Receptor Type 1B

GCID:
GC04P094757
GIFtS:
60
Genes Participants
UDN Logo

Aliases for BMPR1B Gene

Aliases for BMPR1B Gene

  • Bone Morphogenetic Protein Receptor Type 1B 2 3 5
  • Bone Morphogenetic Protein Receptor, Type IB 2 3
  • BMP Type-1B Receptor 3 4
  • EC 2.7.11.30 4 56
  • BMPR-1B 3 4
  • Bone Morphogenetic Protein Receptor Type-1B 3
  • Serine/Threonine Receptor Kinase 3
  • Activin Receptor-Like Kinase 6 3
  • CDw293 Antigen 4
  • EC 2.7.11 56
  • CDw293 3
  • ALK-6 3
  • BDA1D 3
  • BDA2 3
  • ALK6 3
  • AMDD 3

External Ids for BMPR1B Gene

Previous GeneCards Identifiers for BMPR1B Gene

  • GC04P096144
  • GC04P095991
  • GC04P096137
  • GC04P096036
  • GC04P095679
  • GC04P091416

Summaries for BMPR1B Gene

Entrez Gene Summary for BMPR1B Gene

  • 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 formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

GeneCards Summary for BMPR1B Gene

BMPR1B (Bone Morphogenetic Protein Receptor Type 1B) is a Protein Coding gene. Diseases associated with BMPR1B include Acromesomelic Dysplasia, Demirhan Type and Brachydactyly, Type A1, D. Among its related pathways are Akt Signaling and Ovarian Infertility Genes. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is BMPR1A.

UniProtKB/Swiss-Prot for BMPR1B Gene

  • 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 transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.

Gene Wiki entry for BMPR1B Gene

Additional gene information for BMPR1B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMPR1B Gene

Genomics for BMPR1B Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for BMPR1B Gene

Promoters and enhancers for BMPR1B Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04I094757 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.2 248 1.6 KLF17 ZNF76 SIN3A BMI1 ZNF2 ZNF335 GLIS2 ZNF366 EGR2 SP3 BMPR1B BMPR1B-AS1 GC04P094745 GC04M094777
GH04I094994 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 571.3 +238.1 238119 2.3 ZNF76 FEZF1 ZIC2 ZNF664 ZNF335 GATA3 ZNF341 FOXP2 PRDM10 ZNF600 BMPR1B GC04P094910 GC04M095163
GH04I095051 Promoter/Enhancer 1.1 EPDnew Ensembl 550.1 +293.6 293633 0.4 ZNF335 PKNOX1 PRDM6 L3MBTL2 MYNN SIN3A ZNF600 ZNF501 ZBTB17 BMPR1B GC04M095163 GC04P094910
GH04I095092 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.1 +333.5 333469 0.1 SIN3A BMPR1B GC04M095163 GC04P094910
GH04I094865 Promoter 0.5 EPDnew 550.1 +108.0 107965 0.1 BMPR1B GC04P094910 GC04M094777
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BMPR1B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMPR1B gene promoter:

Genomic Locations for BMPR1B Gene

Genomic Locations for BMPR1B Gene
chr4:94,757,968-95,158,450
(GRCh38/hg38)
Size:
400,483 bases
Orientation:
Plus strand
chr4:95,679,119-96,079,601
(GRCh37/hg19)

Genomic View for BMPR1B Gene

Genes around BMPR1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMPR1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMPR1B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BMPR1B Gene

Proteins for BMPR1B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for BMPR1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00238-BMR1B_HUMAN
    Recommended name:
    Bone morphogenetic protein receptor type-1B
    Protein Accession:
    O00238
    Secondary Accessions:
    • B2R953
    • B4DSV1
    • P78366

    Protein attributes for BMPR1B Gene

    Size:
    502 amino acids
    Molecular mass:
    56930 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with high affinity with GDF5; positively regulates chondrocyte differentiation.

    Three dimensional structures from OCA and Proteopedia for BMPR1B Gene

    Alternative splice isoforms for BMPR1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BMPR1B Gene

Protein Expression for BMPR1B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for BMPR1B Gene

O00238:
  • LITDYHE
  • SGSGSGLP
  • HRDLKSKNILVKKNG
  • RHENILGFIAAD
  • RVGTKRYM
  • KPAIAHRD
  • IADLGLA
  • PLLVQRTIA
  • CCIADLGLA
  • ECWAHNPASRLTALR
  • RLTALRVKKT

Post-translational modifications for BMPR1B Gene

Other Protein References for BMPR1B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for BMPR1B (BMPR-IB/ALK-6)
  • Abcam antibodies for BMPR1B
  • Santa Cruz Biotechnology (SCBT) Antibodies for BMPR1B

Domains & Families for BMPR1B Gene

Gene Families for BMPR1B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BMPR1B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BMPR1B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00238

UniProtKB/Swiss-Prot:

BMR1B_HUMAN :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with BMPR1B: view

Function for BMPR1B Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for BMPR1B Gene

GENATLAS Biochemistry:
bone morphogenetic protein receptor,type 1B,predominantly expressed in prostate,TGFBR superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.
UniProtKB/Swiss-Prot 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 transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.

Enzyme Numbers (IUBMB) for BMPR1B Gene

Phenotypes From GWAS Catalog for BMPR1B Gene

Gene Ontology (GO) - Molecular Function for BMPR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 10051328
GO:0004702 signal transducer, downstream of receptor, with serine/threonine kinase activity IEA --
GO:0005025 transforming growth factor beta receptor activity, type I IEA --
genes like me logo Genes that share ontologies with BMPR1B: view
genes like me logo Genes that share phenotypes with BMPR1B: view

Human Phenotype Ontology for BMPR1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMPR1B Gene

MGI Knock Outs for BMPR1B:

No data available for Transcription Factor Targets and HOMER Transcription for BMPR1B Gene

Localization for BMPR1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMPR1B Gene

Cell membrane. Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMPR1B gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for BMPR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IC 14523231
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with BMPR1B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMPR1B Gene

Pathways & Interactions for BMPR1B Gene

genes like me logo Genes that share pathways with BMPR1B: view

SIGNOR curated interactions for BMPR1B Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BMPR1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 14523231
GO:0001502 cartilage condensation NAS,IEA 14523231
GO:0001550 ovarian cumulus expansion ISS,IEA --
GO:0001654 eye development ISS,IEA --
GO:0002062 chondrocyte differentiation IEA --
genes like me logo Genes that share ontologies with BMPR1B: view

Drugs & Compounds for BMPR1B Gene

Products:

  1. Drug

(8) Drugs for BMPR1B Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
ATP Investigational Nutra Agonist 0
LDN-212854 Pharma BMP receptor inhibitor,potent and selective 0
ML347 Pharma BMP receptor inhibitor,potent and selective, Potent and selective ALK1 and ALK2 inhibitor 0

(1) Additional Compounds for BMPR1B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0

(2) ApexBio Compounds for BMPR1B Gene

Compound Action Cas Number
LDN-212854 BMP receptor inhibitor,potent and selective 1432597-26-6
ML347 BMP receptor inhibitor,potent and selective 1062368-49-3
genes like me logo Genes that share compounds with BMPR1B: view

Drug Products

Transcripts for BMPR1B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for BMPR1B Gene

(9) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(46) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BMPR1B Gene

Bone morphogenetic protein receptor, type IB:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BMPR1B Gene

No ASD Table

Relevant External Links for BMPR1B Gene

GeneLoc Exon Structure for
BMPR1B
ECgene alternative splicing isoforms for
BMPR1B

Expression for BMPR1B Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BMPR1B Gene

mRNA expression in normal human tissues for BMPR1B Gene
mRNA expression by GTEx for BMPR1B GenemRNA expression by BioGPS for BMPR1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BMPR1B Gene



NURSA nuclear receptor signaling pathways regulating expression of BMPR1B Gene:

BMPR1B

SOURCE GeneReport for Unigene cluster for BMPR1B Gene:

Hs.598475

Evidence on tissue expression from TISSUES for BMPR1B Gene

  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BMPR1B Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • face
  • head
  • neck
  • nose
  • pituitary gland
  • skull
Thorax:
  • breast
  • clavicle
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with BMPR1B: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BMPR1B Gene

Orthologs for BMPR1B Gene

This gene was present in the common ancestor of animals.

Orthologs for BMPR1B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia BMPR1B 33 34
  • 99.44 (n)
oppossum
(Monodelphis domestica)
 Mammalia BMPR1B 34
  • 95 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia BMPR1B 34
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia BMPR1B 33 34
  • 93.89 (n)
cow
(Bos Taurus)
 Mammalia BMPR1B 33 34
  • 92.63 (n)
mouse
(Mus musculus)
 Mammalia Bmpr1b 33 16 34
  • 89.24 (n)
chicken
(Gallus gallus)
 Aves BMPR1B 33 34
  • 80.94 (n)
lizard
(Anolis carolinensis)
 Reptilia BMPR1B 34
  • 88 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia bmpr1b 33
  • 78.45 (n)
Str.13009 33
zebrafish
(Danio rerio)
 Actinopterygii bmpr1bb 34
  • 92 (a)
 OneToMany
bmpr1ba 33 34
  • 71.59 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP009329 33
  • 55.27 (n)
fruit fly
(Drosophila melanogaster)
 Insecta tkv 35 33 34
  • 53.99 (n)
babo 35
  • 48 (a)
worm
(Caenorhabditis elegans)
 Secernentea sma-6 35 33
  • 50.1 (n)
daf-1 35
  • 37 (a)
Species where no ortholog for BMPR1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BMPR1B Gene

ENSEMBL:
Gene Tree for BMPR1B (if available)
TreeFam:
Gene Tree for BMPR1B (if available)

Paralogs for BMPR1B Gene

Paralogs for BMPR1B Gene

(10) SIMAP similar genes for BMPR1B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BMPR1B: view

Variants for BMPR1B Gene

Sequence variations from dbSNP and Humsavar for BMPR1B Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000796830 uncertain-significance, Brachydactyly 95,156,249(+) G/A 3_prime_UTR_variant
rs1054148840 uncertain-significance, Brachydactyly 95,158,147(+) A/C/G 3_prime_UTR_variant
rs11097457 benign, Brachydactyly 95,155,662(+) A/G 3_prime_UTR_variant
rs112111860 likely-benign, Brachydactyly 95,131,327(+) C/A/T coding_sequence_variant, missense_variant, synonymous_variant
rs112333283 likely-benign, Brachydactyly, not specified 95,154,682(+) G/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for BMPR1B Gene

Variant ID Type Subtype PubMed ID
dgv1514e212 CNV loss 25503493
dgv5342n100 CNV gain 25217958
dgv9174n54 CNV gain 21841781
esv2195551 CNV deletion 18987734
esv2294326 CNV deletion 18987734
esv2517956 CNV deletion 19546169
esv25254 CNV loss 19812545
esv2667118 CNV deletion 23128226
esv2727991 CNV deletion 23290073
esv2727992 CNV deletion 23290073
esv3386922 CNV insertion 20981092
esv3564280 CNV deletion 23714750
esv3564282 CNV deletion 23714750
esv3569607 CNV loss 25503493
esv3569608 CNV loss 25503493
esv3601454 CNV loss 21293372
esv3601457 CNV loss 21293372
esv3601460 CNV loss 21293372
esv3893994 CNV loss 25118596
nsv1002004 CNV loss 25217958
nsv1073784 CNV deletion 25765185
nsv1074737 CNV deletion 25765185
nsv1112397 CNV deletion 24896259
nsv1117110 CNV deletion 24896259
nsv1136891 CNV deletion 24896259
nsv1136892 CNV deletion 24896259
nsv1136893 CNV deletion 24896259
nsv1145035 CNV deletion 24896259
nsv472776 CNV novel sequence insertion 20440878
nsv518579 CNV gain 19592680
nsv594905 CNV loss 21841781
nsv594906 CNV gain 21841781
nsv594907 CNV gain 21841781
nsv830011 CNV gain 17160897
nsv950361 CNV deletion 24416366
nsv956363 CNV deletion 24416366

Variation tolerance for BMPR1B Gene

Residual Variation Intolerance Score: 47.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMPR1B Gene

Human Gene Mutation Database (HGMD)
BMPR1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMPR1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMPR1B Gene

Disorders for BMPR1B Gene

MalaCards: The human disease database

(15) MalaCards diseases for BMPR1B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

BMR1B_HUMAN
  • Acromesomelic dysplasia, Demirhan type (AMDD) [MIM:609441]: A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). {ECO:0000269 PubMed:15805157, ECO:0000269 PubMed:24129431, ECO:0000269 PubMed:26105076}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brachydactyly A1, D (BDA1D) [MIM:616849]: A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant. {ECO:0000269 PubMed:25758993}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. {ECO:0000269 PubMed:14523231, ECO:0000269 PubMed:16957682}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BMPR1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BMPR1B: view

No data available for Genatlas for BMPR1B Gene

Publications for BMPR1B Gene

  1. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. (PMID: 14523231) Lehmann K … Mundlos S (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 58
  2. Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. (PMID: 10051328) Aström AK … Stenman G (Mammalian genome : official journal of the International Mammalian Genome Society 1999) 3 4 22 58
  3. Cloning of human bone morphogenetic protein type IB receptor (BMPR-IB) and its expression in prostate cancer in comparison with other BMPRs. (PMID: 9178898) Ide H … Terada M (Oncogene 1997) 3 4 22 58
  4. Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. (PMID: 25758993) Racacho L … Bulman DE (European journal of human genetics : EJHG 2015) 3 4 58
  5. A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia. (PMID: 26105076) Stange K … Borck G (Orphanet journal of rare diseases 2015) 3 4 58

Products for BMPR1B Gene

Sources for BMPR1B Gene

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