Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BMP8A Gene

Aliases for BMP8A Gene

  • Bone Morphogenetic Protein 8a 2 3 5
  • BMP-8A 3 4

External Ids for BMP8A Gene

Previous GeneCards Identifiers for BMP8A Gene

  • GC01U900417
  • GC01P039371
  • GC01P039372
  • GC01P039626
  • GC01P039731
  • GC01P039958
  • GC01P038076

Summaries for BMP8A Gene

Entrez Gene Summary for BMP8A 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. This protein may play a role in development of the reproductive system. 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 BMP8A Gene

BMP8A (Bone Morphogenetic Protein 8a) is a Protein Coding gene. Among its related pathways are Activation of cAMP-Dependent PKA and GPCR Pathway. GO annotations related to this gene include cytokine activity and transforming growth factor beta receptor binding. An important paralog of this gene is BMP8B.

UniProtKB/Swiss-Prot for BMP8A 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). Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT.

Gene Wiki entry for BMP8A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP8A Gene

Genomics for BMP8A Gene

Regulatory Elements for BMP8A Gene

Enhancers for BMP8A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F039391 1.7 FANTOM5 Ensembl ENCODE 8.3 -95.4 -95396 10.2 HDGF PKNOX1 ARNT ARID4B SIN3A FOS DEK ZNF263 SP5 JUNB PPIEL PABPC4 ENSG00000182109 LOC101929516 SNORA55 OXCT2P1 MYCBP KIAA0754 MACF1 BMP8A
GH01F039170 1 Ensembl ENCODE 8.2 -320.8 -320813 1.6 PKNOX1 CEBPG ZIC2 FOXK2 ZBTB48 POLR2A SCRT2 ZNF600 ZNF652 SCRT1 RNU6-608P ENSG00000226438 KIAA0754 MACF1 BMP8A RNA5SP44 ENSG00000270040
GH01F039203 1 ENCODE 7.7 -286.3 -286275 3.2 HDGF PKNOX1 ATF1 FEZF1 GLIS2 KDM4B MEF2D SMARCA4 GLIS1 HMBOX1 OXCT2P1 ENSG00000226438 BMP8A ENSG00000270040 RNA5SP44
GH01F039229 1 Ensembl ENCODE 7.7 -260.9 -260933 2.6 HDAC1 USF1 SUZ12 TEAD4 MAX ZNF366 SCRT2 NR2F6 PRDM10 HLF ENSG00000226438 RNU6-608P BMP8A PABPC4 GC01P039239 ENSG00000270040
GH01F039102 1.1 ENCODE 7 -385.9 -385903 7.1 PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 FOS ZNF263 SP3 KIAA0754 MACF1 ENSG00000226438 OXCT2P1 ENSG00000182109 GJA9 MYCBP PABPC4 BMP8A OXCT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BMP8A on UCSC Golden Path with GeneCards custom track

Promoters for BMP8A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001743976 -34 1601 CTCF KLF1 SUZ12 SAP130 ZMYM3 KLF17 ZNF335 ZFHX2 GLIS2 POLR2A

Genomic Location for BMP8A Gene

Chromosome:
1
Start:
39,491,634 bp from pter
End:
39,529,869 bp from pter
Size:
38,236 bases
Orientation:
Plus strand

Genomic View for BMP8A Gene

Genes around BMP8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP8A Gene

Proteins for BMP8A Gene

  • Protein details for BMP8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5Y6-BMP8A_HUMAN
    Recommended name:
    Bone morphogenetic protein 8A
    Protein Accession:
    Q7Z5Y6
    Secondary Accessions:
    • Q5T3A5

    Protein attributes for BMP8A Gene

    Size:
    402 amino acids
    Molecular mass:
    44798 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for BMP8A Gene

Post-translational modifications for BMP8A Gene

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

Other Protein References for BMP8A Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for BMP8A

No data available for DME Specific Peptides for BMP8A Gene

Domains & Families for BMP8A Gene

Gene Families for BMP8A Gene

Suggested Antigen Peptide Sequences for BMP8A Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z5Y6

UniProtKB/Swiss-Prot:

BMP8A_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP8A: view

Function for BMP8A Gene

Molecular function for BMP8A 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). Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT.

Gene Ontology (GO) - Molecular Function for BMP8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IEA,IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0008083 growth factor activity IEA --
GO:0070700 BMP receptor binding IBA --
genes like me logo Genes that share ontologies with BMP8A: view
genes like me logo Genes that share phenotypes with BMP8A: view

Animal Models for BMP8A Gene

MGI Knock Outs for BMP8A:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BMP8A Gene

Localization for BMP8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP8A 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 BMP8A gene
Compartment Confidence
extracellular 4
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BMP8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA,IBA --
genes like me logo Genes that share ontologies with BMP8A: view

Pathways & Interactions for BMP8A Gene

genes like me logo Genes that share pathways with BMP8A: view

Gene Ontology (GO) - Biological Process for BMP8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0002024 diet induced thermogenesis IDA 22579288
GO:0007275 multicellular organism development IEA --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with BMP8A: view

No data available for SIGNOR curated interactions for BMP8A Gene

Drugs & Compounds for BMP8A Gene

(1) Drugs for BMP8A 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 BMP8A: view

Transcripts for BMP8A Gene

mRNA/cDNA for BMP8A Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BMP8A Gene

Bone morphogenetic protein 8a:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BMP8A Gene

No ASD Table

Relevant External Links for BMP8A Gene

GeneLoc Exon Structure for
BMP8A
ECgene alternative splicing isoforms for
BMP8A

Expression for BMP8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BMP8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BMP8A Gene

This gene is overexpressed in Thyroid (x9.3).

Protein differential expression in normal tissues from HIPED for BMP8A 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 BMP8A Gene



Protein tissue co-expression partners for BMP8A Gene

NURSA nuclear receptor signaling pathways regulating expression of BMP8A Gene:

BMP8A

SOURCE GeneReport for Unigene cluster for BMP8A Gene:

Hs.472497
genes like me logo Genes that share expression patterns with BMP8A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for BMP8A Gene

Orthologs for BMP8A Gene

This gene was present in the common ancestor of chordates.

Orthologs for BMP8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMP8A 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 35
  • 89 (a)
ManyToMany
-- 35
  • 84 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 88 (a)
ManyToMany
-- 35
  • 75 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Bmp8a 34 16 35
  • 85.05 (n)
Bmp8b 35
  • 75 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Bmp8a 34
  • 84.8 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii bmp8a 35
  • 50 (a)
OneToMany
Species where no ortholog for BMP8A 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)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BMP8A Gene

ENSEMBL:
Gene Tree for BMP8A (if available)
TreeFam:
Gene Tree for BMP8A (if available)

Paralogs for BMP8A Gene

Paralogs for BMP8A Gene

(11) SIMAP similar genes for BMP8A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BMP8A: view

Variants for BMP8A Gene

Sequence variations from dbSNP and Humsavar for BMP8A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10443229 -- 39,504,300(+) ctgag(G/T)tccct intron-variant
rs1066944 -- 39,504,806(+) agggg(A/G)atgtg intron-variant
rs1066945 -- 39,504,903(+) gttgc(C/T)gtgcc intron-variant
rs1068304 -- 39,489,691(+) CCTCT(A/C/G)TGCAC upstream-variant-2KB, utr-variant-3-prime
rs10888798 -- 39,492,408(+) GGGCC(C/G)TGGCC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for BMP8A Gene

Variant ID Type Subtype PubMed ID
nsv945891 CNV duplication 23825009
nsv829649 CNV loss 17160897
nsv7177 OTHER inversion 18451855
nsv508160 CNV deletion 20534489
nsv1152749 CNV duplication 26484159
nsv1126194 CNV deletion 24896259
nsv1116447 OTHER inversion 24896259
esv2268423 CNV deletion 18987734
esv1368683 CNV insertion 17803354

Variation tolerance for BMP8A Gene

Gene Damage Index Score: 12.08; 93.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMP8A Gene

Human Gene Mutation Database (HGMD)
BMP8A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP8A Gene

Disorders for BMP8A Gene

Relevant External Links for BMP8A

Genetic Association Database (GAD)
BMP8A
Human Genome Epidemiology (HuGE) Navigator
BMP8A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMP8A

No disorders were found for BMP8A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BMP8A Gene

Publications for BMP8A Gene

  1. BMP8B increases brown adipose tissue thermogenesis through both central and peripheral actions. (PMID: 22579288) Whittle A.J. … Vidal-Puig A. (Cell 2012) 3 4 64
  2. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  3. Genetic profile of Egyptian hepatocellular-carcinoma associated with hepatitis C virus Genotype 4 by 15 K cDNA microarray: preliminary study. (PMID: 18959789) Zekri A.R. … Khaled H.M. (BMC Res Notes 2008) 3 22 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. Esophageal Cancer Epigenomics and Integrome Analysis of Genome-Wide Methylation and Expression in High Risk Northeast Indian Population. (PMID: 26496483) Singh V. … Saxena S. (OMICS 2015) 3 64

Products for BMP8A Gene

Sources for BMP8A Gene

Content
Loading form....