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Aliases for BMP5 Gene

Aliases for BMP5 Gene

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

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 member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. [provided by RefSeq, Jul 2008]

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 Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. GO annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP2.

UniProtKB/Swiss-Prot for BMP5 Gene

  • Induces cartilage and bone formation.

Gene Wiki entry for BMP5 Gene

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

Genomics for BMP5 Gene

Regulatory Elements for BMP5 Gene

Promoters for BMP5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BMP5 on UCSC Golden Path with GeneCards custom track

Genomic Location for BMP5 Gene

Chromosome:
6
Start:
55,753,645 bp from pter
End:
55,875,593 bp from pter
Size:
121,949 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

Proteomics data for BMP5 Gene at MOPED

Post-translational modifications for BMP5 Gene

  • Glycosylation at Asn 211, Asn 327, Asn 345, and Asn 395
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BMP5 Gene

Domains & Families for BMP5 Gene

Suggested Antigen Peptide Sequences for BMP5 Gene

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

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

Gene Ontology (GO) - Molecular Function for BMP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IEA --
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

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
Jensen Localization Image for BMP5 Gene COMPARTMENTS Subcellular localization image for BMP5 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for BMP5 Gene

Pathways & Interactions for BMP5 Gene

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

Pathways by source for BMP5 Gene

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:0003323 type B pancreatic cell development IDA 11865031
GO:0007389 pattern specification process IEA --
GO:0008285 negative regulation of cell proliferation IDA 19584291
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:

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

No ASD Table

Relevant External Links for BMP5 Gene

GeneLoc Exon Structure for
BMP5
ECgene alternative splicing isoforms for
BMP5

Expression for BMP5 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for BMP5 Gene



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.
genes like me logo Genes that share expression patterns with BMP5: view

Protein tissue co-expression partners for BMP5 Gene

Primer Products

In Situ Assay Products

Orthologs for BMP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BMP5 35
  • 90.9 (n)
  • 95.37 (a)
BMP5 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BMP5 35
  • 94.57 (n)
  • 98.24 (a)
BMP5 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmp5 35
  • 89.43 (n)
  • 93.17 (a)
Bmp5 16
Bmp5 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BMP5 35
  • 99.85 (n)
  • 100 (a)
BMP5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmp5 35
  • 89.28 (n)
  • 93.61 (a)
oppossum
(Monodelphis domestica)
Mammalia BMP5 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BMP5 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP5 35
  • 83.55 (n)
  • 92.7 (a)
BMP5 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMP5 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp5 35
  • 75.52 (n)
  • 82.59 (a)
zebrafish
(Danio rerio)
Actinopterygii bmp5 35
  • 70.29 (n)
  • 78.23 (a)
zgc64230 35
bmp5 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta gbb 37
  • 34 (a)
scw 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea dbl-1 37
  • 34 (a)
Species with no ortholog for BMP5:
  • 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

ENSEMBL:
Gene Tree for BMP5 (if available)
TreeFam:
Gene Tree for BMP5 (if available)

Paralogs for BMP5 Gene

Paralogs for BMP5 Gene

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

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 Sequence Context AA Info Type
rs9475437 - 55,874,862(+) CAGAT(A/G)CATTT reference, missense
rs35124644 - 55,874,504(+) ACCCA(C/T)TGGGA reference, missense
rs490482 -- 55,780,474(+) AAAAA(A/G)AAAGA intron-variant
rs228136 -- 55,761,729(+) tcact(C/G/T)tgttc intron-variant
rs228137 -- 55,762,301(+) GTTTA(A/G)TTACT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv6850n71 CNV Loss 21882294
nsv885909 CNV Loss 21882294
nsv885910 CNV Loss 21882294
esv2665663 CNV Deletion 23128226

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)

Relevant External Links for BMP5 Gene

HapMap Linkage Disequilibrium report
BMP5
Human Gene Mutation Database (HGMD)
BMP5

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
keshan disease
  • caused by deficiency of selenium in the diet
epileptic encephalopathy, childhood-onset
  • childhood onset epileptic encephalopathy
squamous cell papilloma
  • epidermoid papilloma
nephrosclerosis
  • renal sclerosis
persistent mullerian duct syndrome
  • female genital ducts in otherwise normal male
- elite association - COSMIC cancer census association via MalaCards
Search BMP5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BMP5

Genetic Association Database (GAD)
BMP5
Human Genome Epidemiology (HuGE) Navigator
BMP5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMP5
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. Bone morphogenetic protein-5 (BMP-5) promotes dendritic growth in cultured sympathetic neurons. (PMID: 11580864) Beck H.N. … Lein P.J. (BMC Neurosci 2001) 2 3 23 67
  2. A bone morphogenetic protein subfamily: chromosomal localization of human genes for BMP5, BMP6, and BMP7. (PMID: 1427904) Hahn G.V. … Kaplan F.S. (Genomics 1992) 2 3 23
  3. Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis. (PMID: 20021689) Wilkins J.M. … Loughlin J. (BMC Med. Genet. 2009) 3 23
  4. Extreme context specificity in differential allelic expression. (PMID: 17220169) Wilkins J.M. … Loughlin J. (Hum. Mol. Genet. 2007) 3 23
  5. Decrease in expression of bone morphogenetic proteins 4 and 5 in synovial tissue of patients with osteoarthritis and rheumatoid arthritis. (PMID: 16542506) Bramlage C.P. … Burmester G.R. (Arthritis Res. Ther. 2006) 3 23

Products for BMP5 Gene

Sources for BMP5 Gene

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