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

Summary

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: mouse all
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Genomic context

Location:: 1p34.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (39757182..39788865, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (39626622..39658315, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (40222854..40254537, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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).
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.
BMP8 and activated brown adipose tissue in human newborns.
Title: BMP8 and activated brown adipose tissue in human newborns.
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.
Bone morphogenetic protein 8B promotes the progression of non-alcoholic steatohepatitis.
Title: Bone morphogenetic protein 8B promotes the progression of non-alcoholic steatohepatitis.
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.
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.
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.
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.
Five novel SNPs within BMP8B gene.Genetic variants in BMP8B gene are associated with growth traits in Chinese native cattle.
Title: Genetic variants in BMP8B gene are associated with growth traits in Chinese native cattle.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S168 (e-PCR)
- UniSTS:147043

BMP8B_2501 (e-PCR)
- UniSTS:280465

AL010109 (e-PCR)
- UniSTS:66762

RH93165 (e-PCR)
- UniSTS:90081

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)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

39757182..39788865 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011542024.3 → XP_011540326.2 bone morphogenetic protein 8B isoform X1
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
XM_017002155.2 → XP_016857644.1 bone morphogenetic protein 8B isoform X2
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
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
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
XM_017002156.2 → XP_016857645.1 bone morphogenetic protein 8B isoform X5