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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 Apoptotic Pathways in Synovial Fibroblasts and PAK Pathway. 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 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

Additional gene information for BMP8A Gene

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

Genomics for BMP8A Gene

GeneHancer (GH) Regulatory Elements for BMP8A Gene

Promoters and enhancers for BMP8A 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
GH01I039491 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.1 67 1 HDAC1 RB1 SIN3A ZNF335 GLIS2 EGR1 ATF7 CREM NFYC ZNF398 BMP8A LOC105378950 OXCT2P1 PABPC4 OXCT2
GH01I039490 Enhancer 0.4 dbSUPER 550.8 -1.0 -955 0.3 SUZ12 HDAC2 EZH2 LOC105378950 BMP8A PIR47449
GH01I039391 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.3 -95.4 -95396 10.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YY1 ZNF766 FOS DEK PPIEL PPIE LOC101929516 SNORA55 PABPC4 OXCT2P1 KIAA0754 MACF1 TRIT1 BMP8A
GH01I039203 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 7.7 -286.3 -286275 3.2 HDGF PKNOX1 ATF1 ARNT FEZF1 TCF12 ZNF766 E2F8 ATF7 NCOA1 ENSG00000270040 TRIT1 PPIE PPIEL ENSG00000226438 OXCT2P1 BMP8A RNA5SP44 MACF1 KIAA0754
GH01I039102 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 7 -385.9 -385903 7.1 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF213 KIAA0754 MACF1 ENSG00000226438 OXCT2P1 ENSG00000182109 GJA9 MYCBP PABPC4 BMP8A OXCT2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BMP8A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMP8A gene promoter:

Genomic Locations for BMP8A Gene

Genomic Locations for BMP8A Gene
chr1:39,491,634-39,529,869
(GRCh38/hg38)
Size:
38,236 bases
Orientation:
Plus strand
chr1:39,957,318-39,995,541
(GRCh37/hg19)

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 posLast=158158 and Asn343

Other Protein References for BMP8A Gene

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.

Phenotypes From GWAS Catalog for BMP8A Gene

Gene Ontology (GO) - Molecular Function for BMP8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity 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:

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 IBA --
genes like me logo Genes that share ontologies with BMP8A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP8A Gene

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:0010469 regulation of receptor activity IEA --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA --
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 Approved 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:

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 CGAP 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

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 89 (a)
ManyToMany
-- 34
  • 84 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 88 (a)
ManyToMany
-- 34
  • 75 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Bmp8a 33 16 34
  • 85.05 (n)
Bmp8b 34
  • 75 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Bmp8a 33
  • 84.8 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 64 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 67 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii bmp8a 34
  • 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 Variation AA Info Type
rs1000018830 -- 39,528,098(+) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000230286 -- 39,523,286(+) GT/GTGT genic_downstream_transcript_variant, intron_variant
rs1000240726 -- 39,499,156(+) C/T intron_variant
rs1000283572 -- 39,503,010(+) C/T intron_variant
rs1000305093 -- 39,492,570(+) C/T intron_variant

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

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

Variation tolerance for BMP8A Gene

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

Additional Variant Information 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

Additional Disease Information for BMP8A

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

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 AJ … Vidal-Puig A (Cell 2012) 3 4 58
  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. Clinical practice 2010) 3 44 58
  3. Genetic profile of Egyptian hepatocellular-carcinoma associated with hepatitis C virus Genotype 4 by 15 K cDNA microarray: preliminary study. (PMID: 18959789) Zekri AR … Khaled HM (BMC research notes 2008) 3 22 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  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 : a journal of integrative biology 2015) 3 58

Products for BMP8A Gene

Sources for BMP8A Gene

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