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 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
  • Bone Morphogenetic Protein 8B 3 4
  • BMP8 3 4
  • OP-2 2 4
  • BMP-8B 4
  • BMP8B 5
  • BMP-8 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

  • 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. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]

GeneCards Summary for BMP8B Gene

BMP8B (Bone Morphogenetic Protein 8b) is a Protein Coding gene. Diseases associated with BMP8B include Vestibulocochlear Nerve Disease and Vestibular Neuronitis. Among its related pathways are PEDF Induced 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 BMP8A.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMP8B Gene

Genomics for BMP8B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BMP8B 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
GH01J039788 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 260.9 -0.2 -235 3 ZNF600 MYC IKZF1 ZNF592 ZNF10 NFIC ZIC2 ZBTB10 NONO BHLHE40 BMP8B LOC101929536 PPIE OXCT2 PPIEL EXO5 RLF OXCT2P1 ENSG00000229213 TRIT1
GH01J039738 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 18.3 +49.0 49020 3.5 MYC ZNF592 POLR2A YY1 SMAD5 SIN3A ETS1 MBD2 TBP MNT PPIE HSALNG0002801 BMP8B OXCT2 HEYL ENSG00000225903 ENSG00000202222 TRIT1 OXCT2P1 piR-35827
GH01J039865 Enhancer 1.1 FANTOM5 Ensembl dbSUPER 28.7 -76.4 -76436 2.2 IKZF1 ZSCAN16 KLF16 HLTF ZNF624 MLLT1 HDAC2 SNIP1 ARHGAP35 LARP7 TRIT1 EXO5 PPIE BMP8B PPIEL ZMPSTE24 NFYC-AS1 CAP1 PPT1 RLF
GH01J039711 Enhancer 0.9 Ensembl 15.5 +75.4 75364 4.6 MYC NCOR1 IKZF1 ZNF592 NFIC REST ETS1 HES1 BHLHE40 MBD2 BMP8B HPCAL4 PPIE NT5C1A OXCT2 HEYL ENSG00000225903 PABPC4 MYCL-AS1 ENSG00000202222
GH01J039404 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.9 +379.7 379744 8.6 ZNF654 MYC ZNF600 IKZF1 SSRP1 CEBPA BRCA1 POLR2A NFIC YY1 KIAA0754 OXCT2P1 ENSG00000226438 BMP8B MN308938 BMP8A MACF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMP8B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMP8B

Top Transcription factor binding sites by QIAGEN in the BMP8B gene promoter:
  • AML1a
  • CP2
  • HSF1 (long)
  • HSF1short
  • NF-kappaB
  • NF-kappaB1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • TGIF

Genomic Locations for BMP8B Gene

Latest Assembly
chr1:39,757,182-39,788,865
(GRCh38/hg38)
Size:
31,684 bases
Orientation:
Minus strand

Previous Assembly
chr1:40,222,854-40,254,537
(GRCh37/hg19 by Entrez Gene)
Size:
31,684 bases
Orientation:
Minus strand

chr1:40,222,854-40,254,533
(GRCh37/hg19 by Ensembl)
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

Post-translational modifications for BMP8B Gene

  • Glycosylation at Asn158 and Asn343
  • Modification sites at PhosphoSitePlus

Antibodies for research

No data available for DME Specific Peptides for BMP8B Gene

Domains & Families for BMP8B Gene

Gene Families for BMP8B Gene

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

Protein Domains for BMP8B Gene

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

Suggested Antigen Peptide Sequences for BMP8B Gene

GenScript: Design optimal peptide antigens:
  • Osteogenic protein 2 (BMP8B_HUMAN)
  • BMP8B protein (Q32NE5_HUMAN)

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:

Phenotypes From GWAS Catalog for BMP8B Gene

Gene Ontology (GO) - Molecular Function for BMP8B 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 IBA 21873635
genes like me logo Genes that share ontologies with BMP8B: view
genes like me logo Genes that share phenotypes with BMP8B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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
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 BMP8B gene
Compartment Confidence
extracellular 4
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1
lysosome 0

Gene Ontology (GO) - Cellular Components for BMP8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with BMP8B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP8B Gene

Pathways & Interactions for BMP8B Gene

PathCards logo

SuperPathways for BMP8B Gene

SuperPathway Contained pathways
1 PEDF Induced Signaling
.94
.94
.73
.71
.62
.61
.57
.51
.47
.46
.43
2 TGF-Beta Pathway
.60
.60
.57
.51
.43
.40
3 Akt Signaling
.60
.60
.55
4 ERK Signaling
.61
.61
.51
5 PAK Pathway
.56
.56
genes like me logo Genes that share pathways with BMP8B: view

Pathways by source for BMP8B Gene

27 Qiagen pathways for BMP8B Gene
  • Akt Signaling
  • all-trans-Retinoic Acid Signaling in Brain
  • Antioxidant Action of Vitamin-C
  • Endothelin-1 Signaling Pathway
  • ERK Signaling

Gene Ontology (GO) - Biological Process for BMP8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 1460021
GO:0001503 ossification IEA --
GO:0007275 multicellular organism development IEA --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA 21873635
GO:0030154 cell differentiation IEA --
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 6959
genes like me logo Genes that share compounds with BMP8B: view

Transcripts for BMP8B Gene

mRNA/cDNA for BMP8B Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP8B

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

No ASD Table

Relevant External Links for BMP8B Gene

GeneLoc Exon Structure for
BMP8B

Expression for BMP8B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for BMP8B Gene



Protein tissue co-expression partners for BMP8B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMP8B

SOURCE GeneReport for Unigene cluster for BMP8B Gene:

Hs.734367

Evidence on tissue expression from TISSUES for BMP8B Gene

  • Nervous system(4.4)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with BMP8B: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia BMP8B 29 30
  • 98.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 90 (a)
ManyToMany
LOC100855618 29
  • 89.56 (n)
-- 30
  • 85 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia BMP8A 29
  • 88.64 (n)
-- 30
  • 88 (a)
ManyToMany
-- 30
  • 75 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Bmp8a 30
  • 83 (a)
ManyToMany
Bmp8b 30
  • 75 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 68 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 64 (a)
OneToMany
Chicken
(Gallus gallus)
Aves BMP8B 29
  • 76.04 (n)
-- 30
  • 67 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 61 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bmp8b 29
  • 66.58 (n)
Zebrafish
(Danio rerio)
Actinopterygii bmp8a 29 30
  • 63.61 (n)
OneToMany
Species where no ortholog for BMP8B 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)
  • 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for BMP8B Gene

ENSEMBL:
Gene Tree for BMP8B (if available)
TreeFam:
Gene Tree for BMP8B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BMP8B: view image
Alliance of Genome Resources:
Additional Orthologs for BMP8B

Paralogs for BMP8B Gene

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

  • BMP8B_HUMAN
  • E7EMY8_HUMAN
  • Q32NE5_HUMAN

Pseudogenes.org Pseudogenes for BMP8B Gene

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

Variants for BMP8B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMP8B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs138246844 Likely Benign: not provided. Benign: not provided 39,763,173(-) C/GC/T
NM_001720.5(BMP8B):c.978G>C (p.Ser326=)
SYNONYMOUS_VARIANT,INTRON
rs138571171 Benign: not provided 39,763,082(-) T/C
NM_001720.5(BMP8B):c.1059+10A>G
INTRON
rs179472 Benign: not provided 39,764,664(-) C/G
NM_001720.5(BMP8B):c.827G>C (p.Ser276Thr)
MISSENSE
rs192079535 Benign: not provided 39,762,513(-) T/C
NM_001720.5(BMP8B):c.1059+579A>G
INTRON
rs370056406 Likely Benign: not provided 39,775,019(-) C/T
NM_001720.5(BMP8B):c.354G>A (p.Leu118=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BMP8B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv152n100 CNV gain 25217958
dgv153n100 CNV gain 25217958
dgv15n27 CNV gain 19166990
esv2758933 CNV loss 17122850
esv3561048 CNV deletion 23714750
nsv1075454 CNV deletion 25765185
nsv1116447 OTHER inversion 24896259
nsv1136078 CNV deletion 24896259
nsv546063 CNV gain 21841781
nsv7177 OTHER inversion 18451855
nsv945894 CNV duplication 23825009
nsv945895 CNV duplication 23825009
nsv950654 CNV deletion 24416366

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)

Additional Variant Information for BMP8B Gene

Human Gene Mutation Database (HGMD)
BMP8B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP8B
Leiden Open Variation Database (LOVD)
BMP8B

SNP Genotyping and Copy Number Assays for research

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

Disorders for BMP8B Gene

MalaCards: The human disease database

(6) MalaCards diseases for BMP8B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
vestibulocochlear nerve disease
  • acoustic nerve disease
vestibular neuronitis
  • epidemic neurolabyrinthitis
photoallergic dermatitis
  • photoallergic contact dermatitis
breast giant fibroadenoma
  • giant fibroadenoma
achondroplasia
  • ach
- elite association - COSMIC cancer census association via MalaCards
Search BMP8B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BMP8B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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) Ozkaynak E … Oppermann H (The Journal of biological chemistry 1992) 2 3 4 22
  2. 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 40
  3. A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C … Hunter DJ (Human genetics 2010) 3 40
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Genetic variations in humans associated with differences in the course of hepatitis C. (PMID: 15063762) Saito T … Kawata S (Biochemical and biophysical research communications 2004) 3 40

Products for BMP8B Gene

Sources for BMP8B Gene