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BMP8B

gene
On this page

Also known as OP-2

Summary

BMP8B (bone morphogenetic protein 8b, HGNC:1075) is a protein-coding gene on chromosome 1p34.2, encoding Bone morphogenetic protein 8B (P34820). Induces cartilage and bone formation.

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.

Source: NCBI Gene 656 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 168 total — 1 likely-pathogenic
  • MANE Select transcript: NM_001720

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:1075
Approved symbolBMP8B
Namebone morphogenetic protein 8b
Location1p34.2
Locus typegene with protein product
StatusApproved
AliasesOP-2
Ensembl geneENSG00000116985
Ensembl biotypeprotein_coding
OMIM602284
Entrez656

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000372827

RefSeq mRNA: 1 — MANE Select: NM_001720 NM_001720

CCDS: CCDS444

Canonical transcript exons

ENST00000372827 — 7 exons

ExonStartEnd
ENSE000014587523975718239760568
ENSE000014587543978815239788865
ENSE000015941563976371239763791
ENSE000016805453976462339764817
ENSE000017485773976309239763202
ENSE000017885553977484939775038
ENSE000017939763977430839774456

Expression profiles

Bgee: expression breadth ubiquitous, 218 present calls, max score 97.62.

FANTOM5 (CAGE): breadth broad, TPM avg 2.2857 / max 313.3962, expressed in 592 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
118822.2857592

Top tissues by expression

272 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
tibiaUBERON:000097997.62gold quality
dorsal root ganglionUBERON:000004493.17gold quality
trigeminal ganglionUBERON:000167591.37gold quality
jejunal mucosaUBERON:000039988.71gold quality
tibial nerveUBERON:000132387.31gold quality
pigmented layer of retinaUBERON:000178284.62gold quality
sural nerveUBERON:001548882.50gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451182.41gold quality
trabecular bone tissueUBERON:000248380.48gold quality
jejunumUBERON:000211579.49gold quality
duodenumUBERON:000211479.07gold quality
colonic mucosaUBERON:000031777.94gold quality
mucosa of sigmoid colonUBERON:000499377.83gold quality
spermCL:000001975.66gold quality
islet of LangerhansUBERON:000000675.04gold quality
body of pancreasUBERON:000115073.66gold quality
pancreasUBERON:000126473.59gold quality
male germ cellCL:000001573.58gold quality
endothelial cellCL:000011572.64gold quality
gingival epitheliumUBERON:000194972.10gold quality
mammalian vulvaUBERON:000099771.52gold quality
mucosa of transverse colonUBERON:000499171.34gold quality
granulocyteCL:000009470.87gold quality
cartilage tissueUBERON:000241870.83silver quality
seminal vesicleUBERON:000099870.35gold quality
transverse colonUBERON:000115770.32gold quality
corpus epididymisUBERON:000435969.95gold quality
esophagus squamous epitheliumUBERON:000692069.56silver quality
colonUBERON:000115569.35gold quality
large intestineUBERON:000005969.34gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-MTAB-6075yes1094.93
E-ANND-3yes3.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

81 targeting BMP8B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3134100.0066.43777
HSA-MIR-1193100.0065.93529
HSA-MIR-515-5P99.9269.822343
HSA-MIR-519E-5P99.9269.622358
HSA-MIR-106A-5P99.9073.942683
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-17-5P99.8973.832665
HSA-MIR-106B-5P99.8874.722795
HSA-MIR-20A-5P99.8874.762769
HSA-MIR-526B-3P99.8874.062587
HSA-MIR-20B-5P99.8874.012621
HSA-MIR-519D-3P99.8873.972607
HSA-MIR-93-5P99.8873.982606
HSA-MIR-449299.8768.253611
HSA-MIR-221-5P99.8665.451052
HSA-MIR-807399.8665.211118
HSA-MIR-7-5P99.6770.531809
HSA-MIR-519A-3P99.6771.671868
HSA-MIR-519B-3P99.6771.671868
HSA-MIR-519C-3P99.6771.671870
HSA-MIR-6762-3P99.6666.941188
HSA-MIR-613299.6065.831554
HSA-MIR-76299.5866.611994
HSA-MIR-432899.5771.064094
HSA-MIR-671-5P99.5267.111277
HSA-MIR-1207-5P99.4969.112983
HSA-MIR-449899.4767.422360
HSA-MIR-519D-5P99.4169.302057
HSA-MIR-428499.3665.251293
HSA-MIR-450599.2767.812678

Literature-anchored findings (GeneRIF, showing 13)

  • Epigenetic silencing of the bone morphogenetic protein 2 gene through methylation is associated with gastric carcinomas (PMID:16314833)
  • Five novel SNPs within BMP8B gene.Genetic variants in BMP8B gene are associated with growth traits in Chinese native cattle. (PMID:24076131)
  • 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. (PMID:25176058)
  • 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). (PMID:27748538)
  • 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. (PMID:31096638)
  • Human BMP8A suppresses luteinization of rat granulosa cells via the SMAD1/5/8 pathway. (PMID:31940275)
  • 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. (PMID:32694734)
  • Bone morphogenetic protein 8B promotes the progression of non-alcoholic steatohepatitis. (PMID:32694734)
  • BMP8 and activated brown adipose tissue in human newborns. (PMID:34489410)
  • Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn’s Disease. (PMID:34680872)
  • Circulatory bone morphogenetic protein (BMP) 8B is a non-invasive predictive biomarker for the diagnosis of non-alcoholic steatohepatitis (NASH). (PMID:38127951)
  • p200CUX1-regulated BMP8B inhibits the progression of acute myeloid leukemia via the MAPK signaling pathway. (PMID:38819709)
  • Reports on the mouse homolog of this gene. (PMID:9070944)

Cross-species orthologs

1 orthologs

OrganismSymbolGene ID
danio_reriobmp8aENSDARG00000035677

Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), TGFB3 (ENSG00000119699), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), BMP2 (ENSG00000125845), GDF5 (ENSG00000125965), GDF1 (ENSG00000130283), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), INHBE (ENSG00000139269), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP3 (ENSG00000152785), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), BMP8A (ENSG00000183682), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)

Protein

Protein identifiers

Bone morphogenetic protein 8B — P34820 (reviewed: P34820)

Alternative names: Osteogenic protein 2

All UniProt accessions (1): P34820

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Homodimer; disulfide-linked.

Subcellular location. Secreted.

Similarity. Belongs to the TGF-beta family.

Isoforms (2)

UniProt IDNamesCanonical?
P34820-11yes
P34820-22

RefSeq proteins (1): NP_001711* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR001111TGF-b_propeptideDomain
IPR001839TGF-b_CDomain
IPR015615TGF-beta-likeFamily
IPR017948TGFb_CSConserved_site
IPR029034Cystine-knot_cytokineHomologous_superfamily

Pfam: PF00019, PF00688

UniProt features (14 total): disulfide bond 4, splice variant 2, sequence conflict 2, glycosylation site 2, signal peptide 1, propeptide 1, sequence variant 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P34820-F176.960.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (4): 301–367, 330–399, 334–401, 366

Glycosylation sites (2): 158, 343

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): BYSTRYKH_HEMATOPOIESIS_STEM_CELL_FGF3, GOBP_CARTILAGE_DEVELOPMENT, KEGG_HEDGEHOG_SIGNALING_PATHWAY, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOMF_GROWTH_FACTOR_ACTIVITY, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, CCTGTGA_MIR513, chr1p34, TGACATY_UNKNOWN, GOBP_OSSIFICATION, GOBP_RESPONSE_TO_BMP, GOBP_RESPONSE_TO_GROWTH_FACTOR, GOMF_CYTOKINE_ACTIVITY, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS

GO Biological Process (7): skeletal system development (GO:0001501), ossification (GO:0001503), cell differentiation (GO:0030154), BMP signaling pathway (GO:0030509), negative regulation of cell differentiation (GO:0045596), cartilage development (GO:0051216), developmental process (GO:0032502)

GO Molecular Function (2): cytokine activity (GO:0005125), growth factor activity (GO:0008083)

GO Cellular Component (2): obsolete extracellular space (GO:0005615), extracellular region (GO:0005576)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
receptor ligand activity2
system development1
multicellular organismal process1
cellular developmental process1
cellular response to BMP stimulus1
transforming growth factor beta receptor superfamily signaling pathway1
cell differentiation1
regulation of cell differentiation1
negative regulation of cellular process1
negative regulation of developmental process1
skeletal system development1
animal organ development1
connective tissue development1
biological_process1
cellular anatomical structure1

Protein interactions and networks

STRING

816 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
BMP8BBMP7P18075879
BMP8BOXCT2Q9BYC2839
BMP8BBMP1P13497672
BMP8BUCP1P25874601
BMP8BOXCT1P55809588
BMP8BSMAD4Q13485560
BMP8BFGF21Q9NSA1554
BMP8BBMPR2Q13873548
BMP8BATP10AO60312547
BMP8BPRDM16Q9HAZ2541
BMP8BNRG4Q8WWG1534
BMP8BCDS1Q92903505
BMP8BMAGEL2Q9UJ55497
BMP8BMKRN3Q13064494
BMP8BSCG2P13521490

IntAct

24 interactions, top by confidence:

ABTypeScore
ADAMTS4MANBApsi-mi:“MI:0914”(association)0.530
OS9AGRNpsi-mi:“MI:0914”(association)0.530
BMP8BWFIKKN1psi-mi:“MI:0407”(direct interaction)0.440
BMP8BWFIKKN2psi-mi:“MI:0407”(direct interaction)0.440
ABL1BMP8Bpsi-mi:“MI:0915”(physical association)0.400
BMP8BFYNpsi-mi:“MI:0915”(physical association)0.400
CUL1LGALS8psi-mi:“MI:0914”(association)0.350
PLAURDDX11L8psi-mi:“MI:0914”(association)0.350
TAZMANBApsi-mi:“MI:0914”(association)0.350
PDGFRAGXYLT2psi-mi:“MI:0914”(association)0.350
OS9GXYLT2psi-mi:“MI:0914”(association)0.350
SCGB2A2RTL8Cpsi-mi:“MI:0914”(association)0.350
GPIHBP1SAC3D1psi-mi:“MI:0914”(association)0.350
FEM1ARNF113Apsi-mi:“MI:0914”(association)0.350
MFAP4QSOX1psi-mi:“MI:0914”(association)0.350
FEM1ALAD1psi-mi:“MI:0914”(association)0.350
FIBINMAN2B1psi-mi:“MI:0914”(association)0.350
SIRPDADAM10psi-mi:“MI:0914”(association)0.350
KLK15APAF1psi-mi:“MI:0914”(association)0.350
KLK5LRP5psi-mi:“MI:0914”(association)0.350
BTLAMOCS3psi-mi:“MI:0914”(association)0.350
FEM1ADHRS3psi-mi:“MI:0914”(association)0.350

BioGRID (23): BMP8B (Affinity Capture-RNA), BMP8B (Affinity Capture-RNA), BMP8B (Affinity Capture-RNA), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-RNA), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS), BMP8B (Affinity Capture-MS)

ESM2 similar proteins: A2AJ76, A8T644, A8T650, A8T655, A8T658, A8T662, A8T666, A8T672, A8T677, A8T682, A8T688, A8T695, A8T6A1, A8T6A6, D3Z7H8, O75173, O95450, O95479, P04088, P21709, P29121, P34820, P34821, P55103, P55104, P56201, P59996, P79331, Q0V8J4, Q13219, Q16549, Q5RFQ8, Q60750, Q61139, Q62849, Q6UW60, Q78EH2, Q7Z5Y6, Q80W65, Q8BNJ2

Diamond homologs: A8E7N9, G5EEL5, O08717, O18828, O18830, O19006, O42222, O46564, O46576, O88959, O95390, O95393, O95972, P03970, P07713, P07995, P08476, P09534, P12643, P12644, P12645, P18075, P18331, P20722, P20863, P21274, P21275, P22003, P22004, P22444, P23359, P25703, P27092, P27539, P30884, P30885, P30886, P34820, P34821, P34822

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

168 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance146
Likely benign9
Benign2

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
2672311Single alleleLikely pathogenic

SpliceAI

1969 predictions. Top by Δscore:

VariantEffectΔscore
1:39763086:A:ACdonor_gain1.0000
1:39763087:C:CCdonor_gain1.0000
1:39763090:A:ACdonor_gain1.0000
1:39763091:C:CCdonor_gain1.0000
1:39763198:CAGTC:Cacceptor_gain1.0000
1:39763199:AGTC:Aacceptor_gain1.0000
1:39763200:GTC:Gacceptor_gain1.0000
1:39763201:TC:Tacceptor_gain1.0000
1:39763201:TCC:Tacceptor_loss1.0000
1:39763202:CC:Cacceptor_gain1.0000
1:39763203:C:CCacceptor_gain1.0000
1:39763203:C:CGacceptor_loss1.0000
1:39763707:ATTAC:Adonor_loss1.0000
1:39763708:TTA:Tdonor_loss1.0000
1:39763709:TA:Tdonor_loss1.0000
1:39763710:A:ACdonor_gain1.0000
1:39763711:C:CCdonor_gain1.0000
1:39763711:C:CGdonor_loss1.0000
1:39763711:CCAG:Cdonor_gain1.0000
1:39763788:TCAT:Tacceptor_gain1.0000
1:39763789:CAT:Cacceptor_gain1.0000
1:39763789:CATC:Cacceptor_gain1.0000
1:39763790:AT:Aacceptor_gain1.0000
1:39763790:ATCTG:Aacceptor_loss1.0000
1:39763792:C:CCacceptor_gain1.0000
1:39763792:CTGCA:Cacceptor_loss1.0000
1:39774302:CCTCA:Cdonor_loss1.0000
1:39774303:CTCAC:Cdonor_loss1.0000
1:39774304:TCA:Tdonor_loss1.0000
1:39774305:CACCG:Cdonor_loss1.0000

AlphaMissense

2604 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:39763117:G:AT345I0.999
1:39763162:C:TC330Y0.999
1:39763730:G:CF310L0.999
1:39763730:G:TF310L0.999
1:39763731:A:CF310C0.999
1:39763732:A:GF310L0.999
1:39760528:C:TC367Y0.998
1:39763161:A:CC330W0.998
1:39763162:C:AC330F0.998
1:39763162:C:GC330S0.998
1:39763163:A:TC330S0.998
1:39760432:C:TC399Y0.997
1:39760528:C:GC367S0.997
1:39760529:A:TC367S0.997
1:39763150:C:GC334S0.997
1:39763151:A:TC334S0.997
1:39763156:C:AG332V0.997
1:39763157:C:AG332W0.997
1:39763715:C:AW315C0.997
1:39763715:C:GW315C0.997
1:39763731:A:GF310S0.997
1:39763737:A:TV308D0.997
1:39763758:C:GC301S0.997
1:39763759:A:TC301S0.997
1:39760441:A:TV396D0.996
1:39760495:A:TL378H0.996
1:39760522:G:TP369H0.996
1:39760527:A:CC367W0.996
1:39763157:C:GG332R0.996
1:39763157:C:TG332R0.996

dbSNP variants (sampled 300 via entrez): RS1000205445 (1:39767254 A>G), RS1000255204 (1:39766470 C>T), RS1000372818 (1:39788649 T>C,G), RS1000733094 (1:39787235 G>A), RS1000876989 (1:39760294 G>A,C), RS1000894695 (1:39781287 G>T), RS1000967459 (1:39776098 G>A), RS1000970281 (1:39787609 G>C), RS1001021612 (1:39775553 G>C), RS1001032815 (1:39775318 G>A,T), RS1001221084 (1:39787946 C>G), RS1001426071 (1:39781890 C>G,T), RS1001523616 (1:39777320 T>C), RS1001597721 (1:39776587 G>A,T), RS1001712554 (1:39766303 A>G)

Disease associations

OMIM: gene MIM:602284 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): bilateral polymicrogyria (MONDO:0017091)

Orphanet (1): Bilateral polymicrogyria (Orphanet:268940)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

StudyTraitp-value
GCST90014033_1Haemorrhoidal disease4.000000e-33

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

30 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidincreases expression5
aristolochic acid Idecreases expression1
GSK-J4decreases expression1
ethylbenzeneaffects cotreatment, decreases expression, increases methylation1
triphenyl phosphateaffects expression1
bisphenol Adecreases methylation1
2,2’-methylenebis(4-methyl-6-tert-butylphenol)affects expression, affects response to substance1
ethyl-p-hydroxybenzoatedecreases expression1
S-(1,2-dichlorovinyl)cysteineaffects response to substance, increases expression, affects cotreatment, decreases expression1
CGP 52608increases reaction, affects binding1
entinostatincreases expression1
abrinedecreases expression1
Resveratroldecreases expression, affects cotreatment1
Vorinostatincreases expression1
Air Pollutants, Occupationaldecreases expression, increases methylation1
Benzo(a)pyreneaffects methylation, increases methylation1
Estradiolaffects cotreatment, decreases expression1
Lipopolysaccharidesdecreases expression, affects response to substance, increases expression, affects cotreatment1
Paraoxonincreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Smokedecreases expression1
Thiramdecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Tolueneaffects cotreatment, decreases expression, increases methylation1
Urethaneincreases expression1
Xylenesdecreases expression, increases methylation, affects cotreatment1
Zincincreases expression1
Aflatoxin B1increases methylation1
Antirheumatic Agentsdecreases expression1
Okadaic Acidincreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bilateral polymicrogyria, hemorrhoid

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

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