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Aliases for BMP5 Gene

Aliases for BMP5 Gene

  • Bone Morphogenetic Protein 5 2 3 3 5
  • BMP-5 4

External Ids for BMP5 Gene

Previous GeneCards Identifiers for BMP5 Gene

  • GC06M055622
  • GC06M055667
  • GC06M055455

Summaries for BMP5 Gene

Entrez Gene Summary for BMP5 Gene

  • This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]

GeneCards Summary for BMP5 Gene

BMP5 (Bone Morphogenetic Protein 5) is a Protein Coding gene. Diseases associated with BMP5 include Keshan Disease and Epileptic Encephalopathy, Childhood-Onset. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP7.

UniProtKB/Swiss-Prot for BMP5 Gene

  • Induces cartilage and bone formation.

Gene Wiki entry for BMP5 Gene

Additional gene information for BMP5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP5 Gene

Genomics for BMP5 Gene

GeneHancer (GH) Regulatory Elements for BMP5 Gene

Promoters and enhancers for BMP5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J055874 Promoter/Enhancer 1 EPDnew ENCODE dbSUPER 650.7 +0.5 487 2.1 POLR2A BMP5 PIR59218 PIR53614
GH06J055755 Enhancer 1 Ensembl ENCODE 4.8 +117.9 117902 4.3 CLOCK FOXA2 JUN NEUROD1 CEBPG BRCA1 RFX5 CTBP1 GATA3 FOSL2 BMP5 GC06P055778 GC06P055722
GH06J055867 Enhancer 1 ENCODE dbSUPER 0.4 +6.5 6476 2.5 PKNOX1 MZF1 STAT5A BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 BMP5 PIR53614
GH06J055865 Enhancer 0.8 ENCODE dbSUPER 0.4 +9.0 9012 1.8 SMARCE1 PKNOX1 JUN CEBPB DPF2 EP300 ZNF217 CTBP1 JUND MAFF BMP5 PIR53614
GH06J055824 Enhancer 0.9 Ensembl ENCODE dbSUPER 0.2 +49.6 49613 3.3 SP1 JUN FOSL2 KDM1A PIR53614 BMP5 GC06P055778
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMP5 gene promoter:
  • Nkx2-5
  • HFH-1
  • Nkx2-2
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • En-1
  • c-Jun
  • c-Fos
  • AML1a

Genomic Locations for BMP5 Gene

Genomic Locations for BMP5 Gene
121,949 bases
Minus strand
121,933 bases
Minus strand

Genomic View for BMP5 Gene

Genes around BMP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP5 Gene

Proteins for BMP5 Gene

  • Protein details for BMP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Bone morphogenetic protein 5
    Protein Accession:
    Secondary Accessions:
    • B4E0Y4
    • Q9H547
    • Q9NTM5

    Protein attributes for BMP5 Gene

    454 amino acids
    Molecular mass:
    51737 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Alternative splice isoforms for BMP5 Gene


neXtProt entry for BMP5 Gene

Post-translational modifications for BMP5 Gene

  • Glycosylation at posLast=395395, posLast=345345, Asn327, and Asn211
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP5 Gene

Protein Products

  • Abcam proteins for BMP5

No data available for DME Specific Peptides for BMP5 Gene

Domains & Families for BMP5 Gene

Gene Families for BMP5 Gene

Suggested Antigen Peptide Sequences for BMP5 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TGF-beta family.
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP5: view

Function for BMP5 Gene

Molecular function for BMP5 Gene

UniProtKB/Swiss-Prot Function:
Induces cartilage and bone formation.
GENATLAS Biochemistry:
bone morphogenetic protein 5 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily),mouse short-ear (se) homolog

Phenotypes From GWAS Catalog for BMP5 Gene

Gene Ontology (GO) - Molecular Function for BMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0008083 growth factor activity IEA --
GO:0070700 BMP receptor binding IDA 7811286
genes like me logo Genes that share ontologies with BMP5: view
genes like me logo Genes that share phenotypes with BMP5: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BMP5 Gene

Localization for BMP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP5 Gene


Subcellular locations from

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 BMP5 gene
Compartment Confidence
extracellular 5
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space ISS --
GO:0031982 vesicle ISS --
genes like me logo Genes that share ontologies with BMP5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP5 Gene

Pathways & Interactions for BMP5 Gene

genes like me logo Genes that share pathways with BMP5: view

Gene Ontology (GO) - Biological Process for BMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development NAS 2263636
GO:0001503 ossification IEA --
GO:0003272 endocardial cushion formation ISS --
GO:0003323 type B pancreatic cell development IDA 11865031
GO:0003344 pericardium morphogenesis ISS --
genes like me logo Genes that share ontologies with BMP5: view

No data available for SIGNOR curated interactions for BMP5 Gene

Drugs & Compounds for BMP5 Gene

(1) Drugs for BMP5 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Escitalopram Approved, Investigational Pharma 0
genes like me logo Genes that share compounds with BMP5: view

Transcripts for BMP5 Gene

mRNA/cDNA for BMP5 Gene

Unigene Clusters for BMP5 Gene

Bone morphogenetic protein 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BMP5 Gene

No ASD Table

Relevant External Links for BMP5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BMP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BMP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BMP5 Gene

This gene is overexpressed in Bladder (x8.3), Lung (x7.4), and Prostate (x4.1).

Protein differential expression in normal tissues from HIPED for BMP5 Gene

This gene is overexpressed in Heart (68.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BMP5 Gene

Protein tissue co-expression partners for BMP5 Gene

NURSA nuclear receptor signaling pathways regulating expression of BMP5 Gene:


SOURCE GeneReport for Unigene cluster for BMP5 Gene:


mRNA Expression by UniProt/SwissProt for BMP5 Gene:

Tissue specificity: Expressed in the lung and liver.

Evidence on tissue expression from TISSUES for BMP5 Gene

  • Bone(4.4)
  • Lung(4.2)
  • Spleen(4)
genes like me logo Genes that share expression patterns with BMP5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP5 Gene

Orthologs for BMP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BMP5 34 33
  • 99.85 (n)
(Ornithorhynchus anatinus)
Mammalia BMP5 34
  • 95 (a)
(Canis familiaris)
Mammalia BMP5 34 33
  • 94.57 (n)
(Monodelphis domestica)
Mammalia BMP5 34
  • 94 (a)
(Bos Taurus)
Mammalia BMP5 34 33
  • 90.9 (n)
(Mus musculus)
Mammalia Bmp5 16 34 33
  • 89.43 (n)
(Rattus norvegicus)
Mammalia Bmp5 33
  • 89.28 (n)
(Gallus gallus)
Aves BMP5 34 33
  • 83.55 (n)
(Anolis carolinensis)
Reptilia BMP5 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp5 33
  • 75.52 (n)
(Danio rerio)
Actinopterygii bmp5 34 33
  • 70.29 (n)
zgc64230 33
fruit fly
(Drosophila melanogaster)
Insecta gbb 35
  • 34 (a)
scw 35
  • 28 (a)
(Caenorhabditis elegans)
Secernentea dbl-1 35
  • 34 (a)
Species where no ortholog for BMP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 BMP5 Gene

Gene Tree for BMP5 (if available)
Gene Tree for BMP5 (if available)
Evolutionary constrained regions (ECRs) for BMP5: view image

Paralogs for BMP5 Gene

Paralogs for BMP5 Gene

(7) SIMAP similar genes for BMP5 Gene using alignment to 3 proteins:

  • B4E0Y4_HUMAN
genes like me logo Genes that share paralogs with BMP5: view

Variants for BMP5 Gene

Sequence variations from dbSNP and Humsavar for BMP5 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000048084 -- 55,795,311(-) G/C intron_variant
rs1000074248 -- 55,774,962(-) T/C intron_variant
rs1000077555 -- 55,795,553(-) AAAA/AAA/AAAAA intron_variant
rs1000094031 -- 55,863,025(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000109328 -- 55,791,790(-) A/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BMP5 Gene

Variant ID Type Subtype PubMed ID
dgv5966n100 CNV gain 25217958
esv2665663 CNV deletion 23128226
esv3571078 CNV loss 25503493
esv3609078 CNV loss 21293372
esv3609079 CNV loss 21293372
nsv1032684 CNV loss 25217958
nsv1034037 CNV gain 25217958
nsv603164 CNV loss 21841781

Variation tolerance for BMP5 Gene

Residual Variation Intolerance Score: 35.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.76; 47.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMP5 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP5 Gene

Disorders for BMP5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for BMP5 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
keshan disease
  • caused by deficiency of selenium in the diet
epileptic encephalopathy, childhood-onset
  • eeoc
squamous cell papilloma
  • epidermoid papilloma
  • renal sclerosis
  • kashin-beck disease
- elite association - COSMIC cancer census association via MalaCards
Search BMP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BMP5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BMP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMP5 Gene

Publications for BMP5 Gene

  1. Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis. (PMID: 20021689) Wilkins JM … Loughlin J (BMC medical genetics 2009) 3 22 44 58
  2. Bone morphogenetic protein-5 (BMP-5) promotes dendritic growth in cultured sympathetic neurons. (PMID: 11580864) Beck HN … Lein PJ (BMC neuroscience 2001) 2 3 22 58
  3. A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7. (PMID: 1427904) Hahn GV … Kaplan FS (Genomics 1992) 2 3 22 58
  4. Identification of transforming growth factor beta family members present in bone-inductive protein purified from bovine bone. (PMID: 2263636) Celeste AJ … Wozney JM (Proceedings of the National Academy of Sciences of the United States of America 1990) 3 4 22 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for BMP5 Gene

Sources for BMP5 Gene

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