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 homo... See more...

Aliases for BMP5 Gene

Aliases for BMP5 Gene

  • Bone Morphogenetic Protein 5 2 3 4 5
  • BMP-5 4
  • BMP5 5

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 Osteoarthritis and Keshan Disease. Among its related pathways are NF-KappaB Family Pathway and Activation of cAMP-Dependent PKA. 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 Summary for BMP5 Gene

Gene Wiki entry for BMP5 Gene

Additional gene information for BMP5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMP5 Gene

Genomics for BMP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BMP5 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
GH06J055867 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +3.6 3577 8.3 SP1 BACH1 STAT3 RELA POLR2A TCF12 IKZF2 TRIM22 ZNF561 EED BMP5 piR-46002-485 HMGCLL1
GH06J055898 Enhancer 0.5 Ensembl 12.1 -23.0 -23011 0.4 SP1 CEBPB JUN JUND EP300 FOSL2 TCF7L2 BMP5 piR-54764-556 COL21A1
GH06J055913 Enhancer 0.5 Ensembl 11.3 -38.1 -38111 1 BHLHE40 GATA3 SIN3A FEZF1 PRDM6 CTBP1 BCL6B PKNOX1 BMP5 COL21A1 piR-36393-448 piR-43107-262
GH06J055755 Enhancer 0.9 Ensembl ENCODE 4.8 +117.9 117899 4.3 CEBPG CREB1 TARDBP FOXA1 CEBPA ATF7 CEBPB BRCA1 CTBP1 FOS BMP5 piR-46002-485 HMGCLL1
GH06J055916 Enhancer 0.3 Ensembl 11.3 -40.8 -40811 0.8 JUN JUND BMP5 piR-36393-448 piR-43107-262 COL21A1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMP5

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

Genomic Locations for BMP5 Gene

Genomic Locations for BMP5 Gene
chr6:55,753,653-55,875,590
(GRCh38/hg38)
Size:
121,938 bases
Orientation:
Minus strand
chr6:55,618,443-55,740,375
(GRCh37/hg19)
Size:
121,933 bases
Orientation:
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:
    P22003-BMP5_HUMAN
    Recommended name:
    Bone morphogenetic protein 5
    Protein Accession:
    P22003
    Secondary Accessions:
    • B4E0Y4
    • Q9H547
    • Q9NTM5

    Protein attributes for BMP5 Gene

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

    Alternative splice isoforms for BMP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BMP5 Gene

Post-translational modifications for BMP5 Gene

  • Glycosylation at Asn211, Asn327, Asn345, and Asn395
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP5 Gene

No data available for DME Specific Peptides for BMP5 Gene

Domains & Families for BMP5 Gene

Gene Families for BMP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for BMP5 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb), N-terminal
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
ProtoNet:

Suggested Antigen Peptide Sequences for BMP5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59222, highly similar to Bone morphogenetic protein 5 (B4E0Y4_HUMAN)
  • Bone morphogenetic protein 5 (BMP5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22003

UniProtKB/Swiss-Prot:

BMP5_HUMAN :
  • Belongs to the TGF-beta family.
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 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP5

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

Secreted.

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 BMP5 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

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 IBA,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

PathCards logo

SuperPathways for BMP5 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.57
.51
.47
.46
.43
3 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
4 TGF-Beta Pathway
.60
.60
.57
.51
.43
.41
5 ERK Signaling
.61
.61
.58
.51
.49
genes like me logo Genes that share pathways with BMP5: view

Pathways by source for BMP5 Gene

71 Qiagen pathways for BMP5 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

Gene Ontology (GO) - Biological Process for BMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA,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 Pharma 0
genes like me logo Genes that share compounds with BMP5: view

Transcripts for BMP5 Gene

mRNA/cDNA for BMP5 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP5

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

No ASD Table

Relevant External Links for BMP5 Gene

GeneLoc Exon Structure for
BMP5

Expression for BMP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMP5

SOURCE GeneReport for Unigene cluster for BMP5 Gene:

Hs.296648

mRNA Expression by UniProt/SwissProt for BMP5 Gene:

P22003-BMP5_HUMAN
Tissue specificity: Expressed in the lung and liver.

Evidence on tissue expression from TISSUES for BMP5 Gene

  • Bone(4.4)
  • Lung(4.4)
  • Spleen(4.2)
  • Muscle(2.1)
  • Nervous system(2.1)
  • Heart(2)
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
Chimpanzee
(Pan troglodytes)
Mammalia BMP5 30 31
  • 99.85 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BMP5 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia BMP5 30 31
  • 94.57 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BMP5 31
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia BMP5 30 31
  • 90.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bmp5 30 17 31
  • 89.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bmp5 30
  • 89.28 (n)
Chicken
(Gallus gallus)
Aves BMP5 30 31
  • 83.55 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BMP5 31
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bmp5 30
  • 75.52 (n)
Zebrafish
(Danio rerio)
Actinopterygii bmp5 30 31
  • 70.29 (n)
OneToOne
zgc64230 30
Fruit Fly
(Drosophila melanogaster)
Insecta gbb 32
  • 34 (a)
scw 32
  • 28 (a)
Worm
(Caenorhabditis elegans)
Secernentea dbl-1 32
  • 34 (a)
Species where no ortholog for BMP5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

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

Paralogs for BMP5 Gene

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

  • BMP5_HUMAN
  • B4E0Y4_HUMAN
  • M9VUD0_HUMAN
genes like me logo Genes that share paralogs with BMP5: view

Variants for BMP5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMP5 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
708435 Benign: not provided 55,760,493(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
709824 Benign: not provided 55,874,504(-) T/C MISSENSE_VARIANT
714767 Benign: not provided 55,819,713(-) A/G MISSENSE_VARIANT
735236 Benign: not provided 55,759,124(-) T/TACACAC INTRON_VARIANT
rs35124644 - p.Asn121Ser

Additional dbSNP identifiers (rs#s) for BMP5 Gene

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)
BMP5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP5

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

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

Disorder Aliases PubMed IDs
osteoarthritis
  • kashin-beck disease
keshan disease
  • caused by deficiency of selenium in the diet
epileptic encephalopathy, childhood-onset
  • eeoc
renal artery atheroma
  • atherosclerosis of renal artery
nephrosclerosis
  • renal sclerosis
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  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 23
  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 23
  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 23
  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 41

Products for BMP5 Gene

Sources for BMP5 Gene