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BMP8B bone morphogenetic protein 8b [ Homo sapiens (human) ]

Gene ID: 656, updated on 2-Nov-2024

Summary

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Official Symbol
BMP8Bprovided by HGNC
Official Full Name
bone morphogenetic protein 8bprovided by HGNC
Primary source
HGNC:HGNC:1075
See related
Ensembl:ENSG00000116985 MIM:602284; AllianceGenome:HGNC:1075
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OP2; BMP8
Summary
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]
Expression
Broad expression in thyroid (RPKM 7.4), adrenal (RPKM 2.8) and 20 other tissues See more
Orthologs
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Genomic context

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See BMP8B in Genome Data Viewer
Location:
1p34.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (39757182..39788865, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (39626622..39658315, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (40222854..40254537, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 25 pseudogene Neighboring gene RNA, U7 small nuclear 121 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 816 Neighboring gene peptidylprolyl isomerase E Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:40236393-40237066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40237067-40237739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40244416-40244916 Neighboring gene 3-oxoacid CoA-transferase 2 Neighboring gene BMP8B antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40254643-40255144 Neighboring gene uncharacterized LOC101929536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 819 Neighboring gene uncharacterized LOC130932201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:40265165-40265697 Neighboring gene long intergenic non-protein coding RNA 2811

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Circulatory bone morphogenetic protein (BMP) 8B is a non-invasive predictive biomarker for the diagnosis of non-alcoholic steatohepatitis (NASH). Mounika N, et al. PLoS One, 2023. PMID 38127951, Free PMC Article
  2. BMP8 and activated brown adipose tissue in human newborns. Urisarri A, et al. Nat Commun, 2021 Sep 6. PMID 34489410, Free PMC Article
  3. Bone Morphogenetic Protein-8B Expression is Induced in Steatotic Hepatocytes and Promotes Hepatic Steatosis and Inflammation In Vitro. Mahli A, et al. Cells, 2019 May 15. PMID 31096638, Free PMC Article
  4. BMP8B Is a Tumor Suppressor Gene Regulated by Histone Acetylation in Gastric Cancer. Wisnieski F, et al. J Cell Biochem, 2017 Apr. PMID 27748538
  5. BMP8B mediates the survival of pancreatic cancer cells and regulates the progression of pancreatic cancer. Cheng Z, et al. Oncol Rep, 2014 Nov. PMID 25176058

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. p200CUX1-regulated BMP8B inhibits the progression of acute myeloid leukemia via the MAPK signaling pathway.
    Title: p200CUX1-regulated BMP8B inhibits the progression of acute myeloid leukemia via the MAPK signaling pathway.
  2. Circulatory bone morphogenetic protein (BMP) 8B is a non-invasive predictive biomarker for the diagnosis of non-alcoholic steatohepatitis (NASH).
    Title: Circulatory bone morphogenetic protein (BMP) 8B is a non-invasive predictive biomarker for the diagnosis of non-alcoholic steatohepatitis (NASH).
  3. Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn's Disease.
    Title: Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn's Disease.
  4. BMP8 and activated brown adipose tissue in human newborns.
    Title: BMP8 and activated brown adipose tissue in human newborns.
  5. Human BMP8A suppresses luteinization of rat granulosa cells via the SMAD1/5/8 pathway.
    Title: Human BMP8A suppresses luteinization of rat granulosa cells via the SMAD1/5/8 pathway.
  6. Bone morphogenetic protein 8B promotes the progression of non-alcoholic steatohepatitis.
    Title: Bone morphogenetic protein 8B promotes the progression of non-alcoholic steatohepatitis.
  7. BMP8B is upregulated in human NASH in hepatocytes and HSC. The absence of BMP8B prevents HSC activation, reduces inflammation and affects the wound-healing responses, thereby limiting NASH progression.
    Title: Bone morphogenetic protein 8B promotes the progression of non-alcoholic steatohepatitis.
  8. The data indicate that BMP8B enhances different pathophysiological steps of non-alcoholic fatty liver disease (NAFLD) progression and suggest BMP8B as a promising prognostic marker and therapeutic target for NAFLD and, potentially, also for other chronic liver diseases.
    Title: Bone Morphogenetic Protein-8B Expression is Induced in Steatotic Hepatocytes and Promotes Hepatic Steatosis and Inflammation In Vitro.
  9. Acetylated H3K9 and H4K16 levels at BMP8B were increased in gastric cancer (GC) compared to nontumors (P < 0.05). However, reduced levels of acetylated H3K9 and H4K16 were associated with poorly differentiated GC (P < 0.05).
    Title: BMP8B Is a Tumor Suppressor Gene Regulated by Histone Acetylation in Gastric Cancer.
  10. Study found that BMP8B was downregulated in pancreatic cancer tissues and BMP8B mediates the survival of pancreatic cancer cells and regulates the progression of pancreatic cancer.
    Title: BMP8B mediates the survival of pancreatic cancer cells and regulates the progression of pancreatic cancer.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC131757

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cartilage development IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in ossification IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal system development TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
bone morphogenetic protein 8B
Names
bone morphogenetic protein 8 (osteogenic protein 2)
osteogenic protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001720.5 → NP_001711.2  bone morphogenetic protein 8B preproprotein

    See identical proteins and their annotated locations for NP_001711.2

    Status: REVIEWED

    Source sequence(s)
    AL033527, AY303955, BC023526, BC080618
    Consensus CDS
    CCDS444.1
    UniProtKB/Swiss-Prot
    E7EMY8, P34820, Q32NE5, Q53ZM7, Q9NUF0
    Related
    ENSP00000361915.3, ENST00000372827.8
    Conserved Domains (2) summary
    pfam00019
    Location:299 → 401
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:33 → 251
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    39757182..39788865 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542024.3 → XP_011540326.2  bone morphogenetic protein 8B isoform X1

  2. XM_011542022.3 → XP_011540324.1  bone morphogenetic protein 8B isoform X3

    Conserved Domains (2) summary
    pfam00019
    Location:299 → 353
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:33 → 251
    TGFb_propeptide; TGF-beta propeptide

  3. XM_017002155.2 → XP_016857644.1  bone morphogenetic protein 8B isoform X2

  4. XM_024449299.2 → XP_024305067.1  bone morphogenetic protein 8B isoform X4

    Conserved Domains (2) summary
    pfam00019
    Location:206 → 258
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:17 → 156
    TGFb_propeptide; TGF-beta propeptide

  5. XM_011542025.3 → XP_011540327.1  bone morphogenetic protein 8B isoform X7

    Conserved Domains (1) summary
    pfam00688
    Location:33 → 230
    TGFb_propeptide; TGF-beta propeptide

  6. XM_005271149.5 → XP_005271206.1  bone morphogenetic protein 8B isoform X6

    Conserved Domains (1) summary
    pfam00688
    Location:33 → 224
    TGFb_propeptide; TGF-beta propeptide

  7. XM_017002156.2 → XP_016857645.1  bone morphogenetic protein 8B isoform X5

RNA

  1. XR_946750.3 RNA Sequence

  2. XR_946748.3 RNA Sequence

  3. XR_946749.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    39626622..39658315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338449.1 → XP_054194424.1  bone morphogenetic protein 8B isoform X8

  2. XM_054338448.1 → XP_054194423.1  bone morphogenetic protein 8B isoform X3

  3. XM_054338451.1 → XP_054194426.1  bone morphogenetic protein 8B isoform X4

  4. XM_054338450.1 → XP_054194425.1  bone morphogenetic protein 8B isoform X9

  5. XM_054338453.1 → XP_054194428.1  bone morphogenetic protein 8B isoform X6

  6. XM_054338452.1 → XP_054194427.1  bone morphogenetic protein 8B isoform X5

RNA

  1. XR_008486154.1 RNA Sequence

  2. XR_008486155.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P34820.2 GenPept UniProtKB/Swiss-Prot:P34820

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