Human Gene BMP8B (ENST00000372827.8) from GENCODE V44
  Description: Homo sapiens bone morphogenetic protein 8b (BMP8B), mRNA. (from RefSeq NM_001720)
RefSeq Summary (NM_001720): 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].
Gencode Transcript: ENST00000372827.8
Gencode Gene: ENSG00000116985.12
Transcript (Including UTRs)
   Position: hg38 chr1:39,757,182-39,788,865 Size: 31,684 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr1:39,760,419-39,788,485 Size: 28,067 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:39,757,182-39,788,865)mRNA (may differ from genome)Protein (402 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BMP8B_HUMAN
DESCRIPTION: RecName: Full=Bone morphogenetic protein 8B; Short=BMP-8; Short=BMP-8B; AltName: Full=Osteogenic protein 2; Short=OP-2; Flags: Precursor;
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).
SUBUNIT: Homodimer; disulfide-linked.
SUBCELLULAR LOCATION: Secreted.
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 8b entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_8b";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BMP8B
Diseases sorted by gene-association score: blue color blindness (8), achondroplasia (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.97 RPKM in Nerve - Tibial
Total median expression: 85.10 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -197.20380-0.519 Picture PostScript Text
3' UTR -1080.003237-0.334 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002405 - Inhibin_asu
IPR001839 - TGF-b_C
IPR001111 - TGF-b_N
IPR015615 - TGF-beta-rel
IPR017948 - TGFb_CS

Pfam Domains:
PF00019 - Transforming growth factor beta like domain
PF00688 - TGF-beta propeptide

ModBase Predicted Comparative 3D Structure on P34820
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005125 cytokine activity
GO:0005160 transforming growth factor beta receptor binding
GO:0008083 growth factor activity
GO:0070700 BMP receptor binding

Biological Process:
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0007275 multicellular organism development
GO:0010469 regulation of receptor activity
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0030154 cell differentiation
GO:0030509 BMP signaling pathway
GO:0042981 regulation of apoptotic process
GO:0043408 regulation of MAPK cascade
GO:0048468 cell development
GO:0051216 cartilage development
GO:0060395 SMAD protein signal transduction

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space


-  Descriptions from all associated GenBank mRNAs
  BC080618 - Homo sapiens cDNA clone IMAGE:6253239.
AB075489 - Homo sapiens neuroblastoma cDNA, clone:Nbla00124, full insert sequence.
AY303955 - Homo sapiens bone morphogenetic protein 8B (BMP8B) mRNA, complete cds.
BC023526 - Homo sapiens bone morphogenetic protein 8b, mRNA (cDNA clone IMAGE:4136932).
JD094949 - Sequence 75973 from Patent EP1572962.
JD096829 - Sequence 77853 from Patent EP1572962.
JD512374 - Sequence 493398 from Patent EP1572962.
JD331730 - Sequence 312754 from Patent EP1572962.
JD064374 - Sequence 45398 from Patent EP1572962.
JD313348 - Sequence 294372 from Patent EP1572962.
JD160356 - Sequence 141380 from Patent EP1572962.
JD377041 - Sequence 358065 from Patent EP1572962.
JD208550 - Sequence 189574 from Patent EP1572962.
JD488584 - Sequence 469608 from Patent EP1572962.
JD376286 - Sequence 357310 from Patent EP1572962.
JD212333 - Sequence 193357 from Patent EP1572962.
JD279084 - Sequence 260108 from Patent EP1572962.
JD112338 - Sequence 93362 from Patent EP1572962.
JD473537 - Sequence 454561 from Patent EP1572962.
JD353560 - Sequence 334584 from Patent EP1572962.
JD131074 - Sequence 112098 from Patent EP1572962.
JD218900 - Sequence 199924 from Patent EP1572962.
JD493328 - Sequence 474352 from Patent EP1572962.
JD038712 - Sequence 19736 from Patent EP1572962.
JD365648 - Sequence 346672 from Patent EP1572962.
JD537985 - Sequence 519009 from Patent EP1572962.
JD317481 - Sequence 298505 from Patent EP1572962.
JD539450 - Sequence 520474 from Patent EP1572962.
JD354127 - Sequence 335151 from Patent EP1572962.
JD317128 - Sequence 298152 from Patent EP1572962.
JD098164 - Sequence 79188 from Patent EP1572962.
JD527931 - Sequence 508955 from Patent EP1572962.
JD115653 - Sequence 96677 from Patent EP1572962.
JD327969 - Sequence 308993 from Patent EP1572962.
JD273855 - Sequence 254879 from Patent EP1572962.
JD093564 - Sequence 74588 from Patent EP1572962.
JD175509 - Sequence 156533 from Patent EP1572962.
JD234578 - Sequence 215602 from Patent EP1572962.
JD221090 - Sequence 202114 from Patent EP1572962.
JD109377 - Sequence 90401 from Patent EP1572962.
JD377413 - Sequence 358437 from Patent EP1572962.
JD224295 - Sequence 205319 from Patent EP1572962.
JD142810 - Sequence 123834 from Patent EP1572962.
M97016 - Homo sapiens osteogenic protein-2 (OP-2) mRNA, complete cds.
JD338675 - Sequence 319699 from Patent EP1572962.
JD394905 - Sequence 375929 from Patent EP1572962.
JD192004 - Sequence 173028 from Patent EP1572962.
BC108678 - Homo sapiens bone morphogenetic protein 8b, mRNA (cDNA clone MGC:131757 IMAGE:6045180), complete cds.
LF206603 - JP 2014500723-A/14106: Polycomb-Associated Non-Coding RNAs.
MA442180 - JP 2018138019-A/14106: Polycomb-Associated Non-Coding RNAs.
JD200670 - Sequence 181694 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04340 - Hedgehog signaling pathway
hsa04350 - TGF-beta signaling pathway

-  Other Names for This Gene
  Alternate Gene Symbols: BMP8, BMP8B_HUMAN, ENST00000372827.1, ENST00000372827.2, ENST00000372827.3, ENST00000372827.4, ENST00000372827.5, ENST00000372827.6, ENST00000372827.7, NM_001720, P34820, Q53ZM7, Q9NUF0, uc001cdz.1, uc001cdz.2, uc001cdz.3
UCSC ID: ENST00000372827.8
RefSeq Accession: NM_001720
Protein: P34820 (aka BMP8B_HUMAN or BM8B_HUMAN)
CCDS: CCDS444.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.