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Aliases for BMP8B Gene

Aliases for BMP8B Gene

  • Bone Morphogenetic Protein 8b 2 3 5
  • Osteogenic Protein 2 2 3 4
  • Bone Morphogenetic Protein 8 (Osteogenic Protein 2) 2 3
  • BMP-8B 3 4
  • BMP-8 3 4
  • BMP8 3 4
  • DJ118J21.1 (Bone Morphogenetic Protein 8 (Osteogenic Protein 2)) 3
  • OP-2 4
  • OP2 3

External Ids for BMP8B Gene

Previous HGNC Symbols for BMP8B Gene

  • BMP8

Previous GeneCards Identifiers for BMP8B Gene

  • GC01M039638
  • GC01M039639
  • GC01M039892
  • GC01M039996
  • GC01M040222
  • GC01M038342

Summaries for BMP8B Gene

Entrez Gene Summary for BMP8B Gene

  • The bone morphogenetic proteins (BMPs) are a family of secreted signaling molecules that can induce ectopic bone growth. Many BMPs are part of the transforming growth factor-beta (TGFB) superfamily. BMPs were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Based on its expression early in embryogenesis, the BMP encoded by this gene has a proposed role in early development. In addition, the fact that this BMP is closely related to BMP5 and BMP7 has led to speculation of possible bone inductive activity. [provided by RefSeq, Jul 2008]

GeneCards Summary for BMP8B Gene

BMP8B (Bone Morphogenetic Protein 8b) is a Protein Coding gene. Diseases associated with BMP8B include blue color blindness and achondroplasia. Among its related pathways are ERK Signaling and Akt 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 BMP8B Gene

  • Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity).

Gene Wiki entry for BMP8B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP8B Gene

Genomics for BMP8B Gene

Regulatory Elements for BMP8B Gene

Promoters for BMP8B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BMP8B on UCSC Golden Path with GeneCards custom track

Genomic Location for BMP8B Gene

Chromosome:
1
Start:
39,757,182 bp from pter
End:
39,788,861 bp from pter
Size:
31,680 bases
Orientation:
Minus strand

Genomic View for BMP8B Gene

Genes around BMP8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP8B Gene

Proteins for BMP8B Gene

  • Protein details for BMP8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P34820-BMP8B_HUMAN
    Recommended name:
    Bone morphogenetic protein 8B
    Protein Accession:
    P34820
    Secondary Accessions:
    • E7EMY8
    • Q32NE5
    • Q53ZM7
    • Q9NUF0

    Protein attributes for BMP8B Gene

    Size:
    402 amino acids
    Molecular mass:
    44768 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

    Alternative splice isoforms for BMP8B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BMP8B Gene

Proteomics data for BMP8B Gene at MOPED

Post-translational modifications for BMP8B Gene

  • Glycosylation at Asn 158 and Asn 343
  • Modification sites at PhosphoSitePlus

Other Protein References for BMP8B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BMP8B Gene

Domains & Families for BMP8B Gene

Gene Families for BMP8B Gene

Suggested Antigen Peptide Sequences for BMP8B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P34820

UniProtKB/Swiss-Prot:

BMP8B_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP8B: view

Function for BMP8B Gene

Molecular function for BMP8B Gene

UniProtKB/Swiss-Prot Function:
Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity).

LifeMap Function Summary for BMP8B Gene

During embryonic development, BMP8B as signaling molecule is secreted from the following cells
It affects the following cells:
BMP8B as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Gene Ontology (GO) - Molecular Function for BMP8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with BMP8B: view

Phenotypes for BMP8B Gene

genes like me logo Genes that share phenotypes with BMP8B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BMP8B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BMP8B Gene

Localization for BMP8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP8B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BMP8B Gene COMPARTMENTS Subcellular localization image for BMP8B gene
Compartment Confidence
extracellular 4
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for BMP8B Gene

Pathways & Interactions for BMP8B Gene

genes like me logo Genes that share pathways with BMP8B: view

Pathways by source for BMP8B Gene

Gene Ontology (GO) - Biological Process for BMP8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA --
GO:0030509 BMP signaling pathway IBA --
GO:0040007 growth IEA --
GO:0043408 regulation of MAPK cascade IBA --
genes like me logo Genes that share ontologies with BMP8B: view

No data available for SIGNOR curated interactions for BMP8B Gene

Drugs & Compounds for BMP8B Gene

(1) Drugs for BMP8B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with BMP8B: view

Transcripts for BMP8B Gene

Unigene Clusters for BMP8B Gene

Bone morphogenetic protein 8b:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BMP8B Gene

No ASD Table

Relevant External Links for BMP8B Gene

GeneLoc Exon Structure for
BMP8B
ECgene alternative splicing isoforms for
BMP8B

Expression for BMP8B Gene

mRNA expression in normal human tissues for BMP8B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BMP8B Gene

This gene is overexpressed in Nerve - Tibial (x11.6).

Protein differential expression in normal tissues from HIPED for BMP8B Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BMP8B Gene



SOURCE GeneReport for Unigene cluster for BMP8B Gene Hs.734367

genes like me logo Genes that share expression patterns with BMP8B: view

Protein tissue co-expression partners for BMP8B Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for BMP8B Gene

Orthologs for BMP8B Gene

This gene was present in the common ancestor of chordates.

Orthologs for BMP8B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BMP8A 35
  • 88.64 (n)
  • 87.06 (a)
-- 36
  • 88 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia LOC100855618 35
  • 89.56 (n)
  • 88.16 (a)
-- 36
  • 90 (a)
ManyToMany
-- 36
  • 85 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia BMP8B 35
  • 98.67 (n)
  • 98.51 (a)
BMP8B 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 68 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Bmp8a 36
  • 83 (a)
ManyToMany
Bmp8b 36
  • 75 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves BMP8B 35
  • 76.04 (n)
  • 73.51 (a)
-- 36
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp8b 35
  • 66.58 (n)
  • 68.85 (a)
zebrafish
(Danio rerio)
Actinopterygii bmp8a 35
  • 63.61 (n)
  • 61.39 (a)
bmp8a 36
  • 51 (a)
OneToMany
Species with no ortholog for BMP8B:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for BMP8B Gene

ENSEMBL:
Gene Tree for BMP8B (if available)
TreeFam:
Gene Tree for BMP8B (if available)

Paralogs for BMP8B Gene

Paralogs for BMP8B Gene

(4) SIMAP similar genes for BMP8B Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for BMP8B Gene

genes like me logo Genes that share paralogs with BMP8B: view

Variants for BMP8B Gene

Sequence variations from dbSNP and Humsavar for BMP8B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_014474 -
rs182799 -- 39,768,569(+) AAAAA(C/T)GTTCA intron-variant
rs230313 -- 39,765,887(+) aaaaa(A/T)ataaa intron-variant
rs230315 -- 39,766,478(+) ACAGG(C/T)CAAGG intron-variant
rs230316 -- 39,766,606(-) GTCAC(A/G)GGTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BMP8B Gene

Variant ID Type Subtype PubMed ID
nsv7177 OTHER Inversion 18451855
dgv15n27 CNV Gain 19166990
dgv215n71 CNV Loss 21882294
dgv49e1 CNV Complex 17122850
nsv871927 CNV Loss 21882294

Variation tolerance for BMP8B Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.44; 64.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMP8B Gene

HapMap Linkage Disequilibrium report
BMP8B
Human Gene Mutation Database (HGMD)
BMP8B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP8B Gene

Disorders for BMP8B Gene

MalaCards: The human disease database

(2) MalaCards diseases for BMP8B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
blue color blindness
  • tritan defect
achondroplasia
  • achondroplastic physique
- elite association - COSMIC cancer census association via MalaCards
Search BMP8B in MalaCards View complete list of genes associated with diseases

Relevant External Links for BMP8B

Genetic Association Database (GAD)
BMP8B
Human Genome Epidemiology (HuGE) Navigator
BMP8B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMP8B
genes like me logo Genes that share disorders with BMP8B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BMP8B Gene

Publications for BMP8B Gene

  1. Osteogenic protein-2. A new member of the transforming growth factor- beta superfamily expressed early in embryogenesis. (PMID: 1460021) Oezkaynak E. … Oppermann H. (J. Biol. Chem. 1992) 2 3 4 23 67
  2. The Bmp8 gene is expressed in developing skeletal tissue and maps near the Achondroplasia locus on mouse chromosome 4. (PMID: 9070944) DiLeone R.J. … Kingsley D.M. (Genomics 1997) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Genetic variants in BMP8B gene are associated with growth traits in Chinese native cattle. (PMID: 24076131) Cao X.K. … Chen H. (Gene 2013) 3
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A. … Hentze M.W. (Cell 2012) 3

Products for BMP8B Gene

Sources for BMP8B Gene

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