Human Gene BMP4 (ENST00000245451.9_7) from GENCODE V47lift37
  Description: bone morphogenetic protein 4, transcript variant 1 (from RefSeq NM_001202.6)
Gencode Transcript: ENST00000245451.9_7
Gencode Gene: ENSG00000125378.16_12
Transcript (Including UTRs)
   Position: hg19 chr14:54,416,454-54,423,543 Size: 7,090 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr14:54,416,750-54,418,940 Size: 2,191 Coding Exon Count: 2 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:54,416,454-54,423,543)mRNA (may differ from genome)Protein (408 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q53XC5_HUMAN
DESCRIPTION: SubName: Full=Bone morphogenetic protein 4; SubName: Full=Bone morphogenetic protein 4, isoform CRA_a; SubName: Full=Full-length cDNA clone CS0DC002YH22 of Neuroblastoma of Homo sapiens (human); SubName: Full=Full-length cDNA clone CS0DI018YL16 of Placenta of Homo sapiens (human);
SIMILARITY: Belongs to the TGF-beta family.

-  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: BMP4
Diseases sorted by gene-association score: microphthalmia, syndromic 6* (1678), orofacial cleft 11* (1330), renal agenesis, unilateral* (132), orofacial cleft (33), fibrodysplasia ossificans progressiva (27), microphthalmia (14), cleft lip (13), door syndrome (12), short syndrome (12), osseous heteroplasia, progressive (10), embryonal carcinoma (10), bullous keratopathy (9), fibrochondrogenesis (9), temtamy preaxial brachydactyly syndrome (9), cleft lip/palate* (8), colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas (8), polydactyly, postaxial, types a1 and b (8), otosclerosis (8), cleft palate, isolated (7), ogden syndrome (6), ankylosis (6), tooth agenesis (6), proximal symphalangism (6), oligoarticular juvenile idiopathic arthritis (6), synovial chondromatosis (6), ossification of the posterior longitudinal ligament of spine (5), brain glioma (5), char syndrome (4), corneal dystrophy, posterior polymorphous, 3 (4), multiple synostoses syndrome (4), axenfeld-rieger syndrome, type 1 (4), duane-radial ray syndrome (4), persistent mullerian duct syndrome (4), pulmonary hypertension (4), agnathia-otocephaly complex (4), prostate cancer (2), neural tube defects (2)
* = 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: 9.59 RPKM in Vagina
Total median expression: 181.49 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 -158.40408-0.388 Picture PostScript Text
3' UTR -29.52296-0.100 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

ModBase Predicted Comparative 3D Structure on Q53XC5
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:0008083 growth factor activity
GO:0008201 heparin binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001525 angiogenesis
GO:0001568 blood vessel development
GO:0001649 osteoblast differentiation
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001707 mesoderm formation
GO:0001759 organ induction
GO:0001822 kidney development
GO:0001843 neural tube closure
GO:0001934 positive regulation of protein phosphorylation
GO:0001938 positive regulation of endothelial cell proliferation
GO:0001944 vasculature development
GO:0001958 endochondral ossification
GO:0002062 chondrocyte differentiation
GO:0002244 hematopoietic progenitor cell differentiation
GO:0003014 renal system process
GO:0003148 outflow tract septum morphogenesis
GO:0003149 membranous septum morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003180 aortic valve morphogenesis
GO:0003184 pulmonary valve morphogenesis
GO:0003197 endocardial cushion development
GO:0007281 germ cell development
GO:0007492 endoderm development
GO:0007500 mesodermal cell fate determination
GO:0007507 heart development
GO:0008284 positive regulation of cell proliferation
GO:0008285 negative regulation of cell proliferation
GO:0009791 post-embryonic development
GO:0009888 tissue development
GO:0009948 anterior/posterior axis specification
GO:0010159 specification of animal organ position
GO:0010468 regulation of gene expression
GO:0010469 regulation of receptor activity
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0021904 dorsal/ventral neural tube patterning
GO:0021978 telencephalon regionalization
GO:0021983 pituitary gland development
GO:0030218 erythrocyte differentiation
GO:0030324 lung development
GO:0030326 embryonic limb morphogenesis
GO:0030335 positive regulation of cell migration
GO:0030509 BMP signaling pathway
GO:0030513 positive regulation of BMP signaling pathway
GO:0030900 forebrain development
GO:0032331 negative regulation of chondrocyte differentiation
GO:0035116 embryonic hindlimb morphogenesis
GO:0035990 tendon cell differentiation
GO:0035993 deltoid tuberosity development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0042487 regulation of odontogenesis of dentin-containing tooth
GO:0042733 embryonic digit morphogenesis
GO:0043010 camera-type eye development
GO:0043066 negative regulation of apoptotic process
GO:0045165 cell fate commitment
GO:0045595 regulation of cell differentiation
GO:0045597 positive regulation of cell differentiation
GO:0045603 positive regulation of endothelial cell differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045778 positive regulation of ossification
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048333 mesodermal cell differentiation
GO:0048593 camera-type eye morphogenesis
GO:0048598 embryonic morphogenesis
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0048660 regulation of smooth muscle cell proliferation
GO:0048663 neuron fate commitment
GO:0048701 embryonic cranial skeleton morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0048706 embryonic skeletal system development
GO:0048745 smooth muscle tissue development
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051145 smooth muscle cell differentiation
GO:0051150 regulation of smooth muscle cell differentiation
GO:0055007 cardiac muscle cell differentiation
GO:0060113 inner ear receptor cell differentiation
GO:0060197 cloacal septation
GO:0060235 lens induction in camera-type eye
GO:0060272 embryonic skeletal joint morphogenesis
GO:0060348 bone development
GO:0060363 cranial suture morphogenesis
GO:0060395 SMAD protein signal transduction
GO:0060429 epithelium development
GO:0060440 trachea formation
GO:0060442 branching involved in prostate gland morphogenesis
GO:0060449 bud elongation involved in lung branching
GO:0060512 prostate gland morphogenesis
GO:0060592 mammary gland formation
GO:0060684 epithelial-mesenchymal cell signaling
GO:0060686 negative regulation of prostatic bud formation
GO:0060687 regulation of branching involved in prostate gland morphogenesis
GO:0060688 regulation of morphogenesis of a branching structure
GO:0060976 coronary vasculature development
GO:0061035 regulation of cartilage development
GO:0061047 positive regulation of branching involved in lung morphogenesis
GO:0061149 BMP signaling pathway involved in ureter morphogenesis
GO:0061151 BMP signaling pathway involved in renal system segmentation
GO:0061312 BMP signaling pathway involved in heart development
GO:0061626 pharyngeal arch artery morphogenesis
GO:0070374 positive regulation of ERK1 and ERK2 cascade
GO:0071363 cellular response to growth factor stimulus
GO:0072001 renal system development
GO:0072015 glomerular visceral epithelial cell development
GO:0072104 glomerular capillary formation
GO:0072138 mesenchymal cell proliferation involved in ureteric bud development
GO:0072161 mesenchymal cell differentiation involved in kidney development
GO:0072192 ureter epithelial cell differentiation
GO:0072193 ureter smooth muscle cell differentiation
GO:0072198 mesenchymal cell proliferation involved in ureter development
GO:0072205 metanephric collecting duct development
GO:0090191 negative regulation of branching involved in ureteric bud morphogenesis
GO:1901964 positive regulation of cell proliferation involved in outflow tract morphogenesis
GO:1902895 positive regulation of pri-miRNA transcription from RNA polymerase II promoter
GO:1905312 positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis
GO:2001012 mesenchymal cell differentiation involved in renal system development
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway

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


-  Descriptions from all associated GenBank mRNAs
  BX161385 - human full-length cDNA clone CS0DC002YH22 of Neuroblastoma of Homo sapiens (human).
BX161438 - human full-length cDNA clone CS0DI018YL16 of Placenta of Homo sapiens (human).
JD357553 - Sequence 338577 from Patent EP1572962.
M22490 - Human bone morphogenetic protein-2B (BMP-2B) mRNA.
D30751 - Homo sapiens BMP-4 mRNA for bone morphogenetic protein 4, complete cds.
JD431179 - Sequence 412203 from Patent EP1572962.
KF250427 - Homo sapiens bone morphogenetic protein 4 (BMP4) mRNA, partial cds.
HQ447921 - Synthetic construct Homo sapiens clone IMAGE:100071280; CCSB001026_02 bone morphogenetic protein 4 (BMP4) gene, encodes complete protein.
KJ896505 - Synthetic construct Homo sapiens clone ccsbBroadEn_05899 BMP4 gene, encodes complete protein.
KR709443 - Synthetic construct Homo sapiens clone CCSBHm_00002215 BMP4 (BMP4) mRNA, encodes complete protein.
KR709444 - Synthetic construct Homo sapiens clone CCSBHm_00002221 BMP4 (BMP4) mRNA, encodes complete protein.
KR709445 - Synthetic construct Homo sapiens clone CCSBHm_00002225 BMP4 (BMP4) mRNA, encodes complete protein.
KR709446 - Synthetic construct Homo sapiens clone CCSBHm_00002230 BMP4 (BMP4) mRNA, encodes complete protein.
EU176183 - Synthetic construct Homo sapiens clone IMAGE:100006341; FLH165349.01X; RZPDo839C03250D bone morphogenetic protein 4 (BMP4) gene, encodes complete protein.
AB464468 - Synthetic construct DNA, clone: pF1KB8997, Homo sapiens BMP4 gene for bone morphogenetic protein 4, without stop codon, in Flexi system.
CU676550 - Synthetic construct Homo sapiens gateway clone IMAGE:100018234 5' read BMP4 mRNA.
KM220602 - Homo sapiens isolate S1 bone morphogenetic protein 4 preproprotein (BMP4) mRNA, complete cds.
JD139945 - Sequence 120969 from Patent EP1572962.
LF212567 - JP 2014500723-A/20070: Polycomb-Associated Non-Coding RNAs.
JD122206 - Sequence 103230 from Patent EP1572962.
JD535573 - Sequence 516597 from Patent EP1572962.
JD128283 - Sequence 109307 from Patent EP1572962.
JD165977 - Sequence 147001 from Patent EP1572962.
JD537749 - Sequence 518773 from Patent EP1572962.
JD449461 - Sequence 430485 from Patent EP1572962.
JD445338 - Sequence 426362 from Patent EP1572962.
JD481648 - Sequence 462672 from Patent EP1572962.
MA448144 - JP 2018138019-A/20070: Polycomb-Associated Non-Coding RNAs.
BC020546 - Homo sapiens bone morphogenetic protein 4, mRNA (cDNA clone MGC:21303 IMAGE:4399276), complete cds.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_alkPathway - ALK in cardiac myocytes

-  Other Names for This Gene
  Alternate Gene Symbols: BMP4 , ENST00000245451.1, ENST00000245451.2, ENST00000245451.3, ENST00000245451.4, ENST00000245451.5, ENST00000245451.6, ENST00000245451.7, ENST00000245451.8, hCG_20967 , NM_001202, Q53XC5, Q53XC5_HUMAN, uc317eqq.1, uc317eqq.2
UCSC ID: ENST00000245451.9_7
RefSeq Accession: NM_001202.6
Protein: Q53XC5

-  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.