Human Gene BMP6 (ENST00000283147.7_4) from GENCODE V47lift37
  Description: bone morphogenetic protein 6 (from RefSeq NM_001718.6)
Gencode Transcript: ENST00000283147.7_4
Gencode Gene: ENSG00000153162.9_7
Transcript (Including UTRs)
   Position: hg19 chr6:7,726,332-7,881,961 Size: 155,630 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr6:7,727,189-7,880,576 Size: 153,388 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:7,726,332-7,881,961)mRNA (may differ from genome)Protein (513 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BMP6_HUMAN
DESCRIPTION: RecName: Full=Bone morphogenetic protein 6; Short=BMP-6; AltName: Full=VG-1-related protein; Short=VG-1-R; Short=VGR-1; Flags: Precursor;
FUNCTION: Induces cartilage and bone formation.
SUBUNIT: Interacts with SOSTDC1 (By similarity).
SUBCELLULAR LOCATION: Secreted (By similarity).
SIMILARITY: Belongs to the TGF-beta family.
WEB RESOURCE: Name=Wikipedia; Note=Bone morphogenetic protein 6 entry; URL="http://en.wikipedia.org/wiki/Bone_morphogenetic_protein_6";

-  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: BMP6
Diseases sorted by gene-association score: hemochromatosis, type 5* (247), bone marrow necrosis (18), hypertrophic scars (14), eosinophilic fasciitis (13), cholecystolithiasis (12), renal fibrosis (12), hereditary hemorrhagic telangiectasia (10), mycobacterium avium complex disease (9), dupuytren contracture (9), breast cyst (8), fibrochondrogenesis (8), marfan syndrome (8), crest syndrome (8), melorheostosis (7), eosinophilia-myalgia syndrome (7), myelofibrosis with myeloid metaplasia, somatic (6), tuberculoid leprosy (6), crouzon syndrome (6), anthracosis (6), nontuberculous mycobacterial lung disease (5), localized scleroderma (5), diabetic angiopathy (5), prostate adenocarcinoma (5), ureteral obstruction (5), fasciitis (5), idiopathic hypercalciuria (5), telangiectasis (5), prostate cancer (5), rasmussen encephalitis (5), juvenile nasopharyngeal angiofibroma (4), breast cancer (3), pulmonary hypertension (3), colorectal cancer (2), pulmonary fibrosis, idiopathic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.93 RPKM in Adipose - Subcutaneous
Total median expression: 69.49 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 -445.10857-0.519 Picture PostScript Text
3' UTR -350.501385-0.253 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
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

SCOP Domains:
57501 - Cystine-knot cytokines

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QCW - X-ray MuPIT 2R52 - X-ray MuPIT 2R53 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P22004
FrontTopSide
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  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:0046982 protein heterodimerization activity
GO:0070700 BMP receptor binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001649 osteoblast differentiation
GO:0001654 eye development
GO:0001822 kidney development
GO:0001938 positive regulation of endothelial cell proliferation
GO:0001958 endochondral ossification
GO:0003323 type B pancreatic cell development
GO:0006879 cellular iron ion homeostasis
GO:0006954 inflammatory response
GO:0006955 immune response
GO:0007275 multicellular organism development
GO:0008284 positive regulation of cell proliferation
GO:0010039 response to iron ion
GO:0010469 regulation of receptor activity
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0014823 response to activity
GO:0030154 cell differentiation
GO:0030501 positive regulation of bone mineralization
GO:0030509 BMP signaling pathway
GO:0030539 male genitalia development
GO:0031666 positive regulation of lipopolysaccharide-mediated signaling pathway
GO:0032026 response to magnesium ion
GO:0032332 positive regulation of chondrocyte differentiation
GO:0032349 positive regulation of aldosterone biosynthetic process
GO:0032526 response to retinoic acid
GO:0042981 regulation of apoptotic process
GO:0043408 regulation of MAPK cascade
GO:0045603 positive regulation of endothelial cell differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050679 positive regulation of epithelial cell proliferation
GO:0050714 positive regulation of protein secretion
GO:0051216 cartilage development
GO:0051384 response to glucocorticoid
GO:0060391 positive regulation of SMAD protein import into nucleus
GO:0060395 SMAD protein signal transduction
GO:0060586 multicellular organismal iron ion homeostasis
GO:0071260 cellular response to mechanical stimulus
GO:0071281 cellular response to iron ion
GO:0071773 cellular response to BMP stimulus
GO:2000860 positive regulation of aldosterone secretion

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0031982 vesicle


-  Descriptions from all associated GenBank mRNAs
  AK300628 - Homo sapiens cDNA FLJ51307 complete cds, highly similar to Bone morphogenetic protein 6 precursor.
FW339991 - Screening.
M60315 - Human transforming growth factor-beta BMP protein (tgf-beta) mRNA, complete cds.
BC096084 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40000785), partial cds.
BC096085 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40000786), partial cds.
BC099624 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40000780), partial cds.
BC099625 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40000781), partial cds.
BC111763 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40011134), partial cds.
BC112352 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40011133), partial cds.
BC113018 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40009968), partial cds.
BC113019 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40009973), partial cds.
BC128031 - Homo sapiens bone morphogenetic protein 6, mRNA (cDNA clone IMAGE:40011136), partial cds.
BC160106 - Synthetic construct Homo sapiens clone IMAGE:100064138, MGC:193221 bone morphogenetic protein 6 (BMP6) mRNA, encodes complete protein.
JD137694 - Sequence 118718 from Patent EP1572962.
JD439297 - Sequence 420321 from Patent EP1572962.
JD395025 - Sequence 376049 from Patent EP1572962.
JD462916 - Sequence 443940 from Patent EP1572962.
DQ584211 - Homo sapiens piRNA piR-51323, complete sequence.
JD437567 - Sequence 418591 from Patent EP1572962.
JD338403 - Sequence 319427 from Patent EP1572962.
JD563507 - Sequence 544531 from Patent EP1572962.
JD317886 - Sequence 298910 from Patent EP1572962.
JD203531 - Sequence 184555 from Patent EP1572962.
JD107023 - Sequence 88047 from Patent EP1572962.
JD075342 - Sequence 56366 from Patent EP1572962.
JD384243 - Sequence 365267 from Patent EP1572962.
JD296089 - Sequence 277113 from Patent EP1572962.
JD234897 - Sequence 215921 from Patent EP1572962.
JD280460 - Sequence 261484 from Patent EP1572962.
JD360164 - Sequence 341188 from Patent EP1572962.
JD345419 - Sequence 326443 from Patent EP1572962.
JD285322 - Sequence 266346 from Patent EP1572962.
JD075089 - Sequence 56113 from Patent EP1572962.
JD413237 - Sequence 394261 from Patent EP1572962.
JD299846 - Sequence 280870 from Patent EP1572962.
JD304843 - Sequence 285867 from Patent EP1572962.
JD548964 - Sequence 529988 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BMP6_HUMAN, ENST00000283147.1, ENST00000283147.2, ENST00000283147.3, ENST00000283147.4, ENST00000283147.5, ENST00000283147.6, NM_001718, P22004, Q5TCP3, uc317kbq.1, uc317kbq.2, VGR
UCSC ID: ENST00000283147.7_4
RefSeq Accession: NM_001718.6
Protein: P22004 (aka BMP6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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