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Aliases for BMP4 Gene

Aliases for BMP4 Gene

  • Bone Morphogenetic Protein 4 2 3 5
  • Bone Morphogenetic Protein 2B 3 4
  • BMP2B 3 4
  • BMP2B1 3
  • MCOPS6 3
  • BMP-2B 4
  • OFC11 3
  • BMP-4 4
  • ZYME 3
  • DVR4 4

External Ids for BMP4 Gene

Previous HGNC Symbols for BMP4 Gene

  • BMP2B

Previous GeneCards Identifiers for BMP4 Gene

  • GC14M051739
  • GC14M048212
  • GC14M052406
  • GC14M053486
  • GC14M054416
  • GC14M034579

Summaries for BMP4 Gene

Entrez Gene Summary for BMP4 Gene

  • 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. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]

GeneCards Summary for BMP4 Gene

BMP4 (Bone Morphogenetic Protein 4) is a Protein Coding gene. Diseases associated with BMP4 include Microphthalmia, Syndromic 6 and Orofacial Cleft 11. Among its related pathways are Ectoderm Differentiation and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include cytokine activity and heparin binding. An important paralog of this gene is BMP2.

UniProtKB/Swiss-Prot for BMP4 Gene

  • Induces cartilage and bone formation. Also act in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).

Gene Wiki entry for BMP4 Gene

Additional gene information for BMP4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP4 Gene

Genomics for BMP4 Gene

GeneHancer (GH) Regulatory Elements for BMP4 Gene

Promoters and enhancers for BMP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I053950 Promoter/Enhancer 2.4 VISTA EPDnew Ensembl ENCODE dbSUPER 559.2 +4.3 4268 7.8 ARID4B SIN3A FEZF1 ZBTB7B ZNF48 ETS1 ZNF121 ELK1 PAF1 SP3 BMP4 MIR5580
GH14I054487 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 49.1 -530.7 -530678 3.8 HDGF PKNOX1 CLOCK ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 ZNF207 GMFB ATG14 BMP4 MAPK1IP1L SOCS4 ENSG00000259318 CGRRF1 CNIH1 WDHD1 GC14P054145
GH14I054395 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.3 -438.5 -438490 2.7 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF416 CDKN3 MAPK1IP1L SOCS4 WDHD1 BMP4 CNIH1 GC14P054145
GH14I054900 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.6 -943.3 -943261 3.2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF143 FOS GCH1 GC14P054902 MAPK1IP1L BMP4 ATG14 FDPSP3
GH14I053978 Enhancer 0.9 ENCODE 16 -21.0 -20989 2.9 FOXA2 MLX ZFP64 ARID4B SIN3A ZNF48 ETS1 PPARG KAT8 NFIL3 BMP4 ATP5F1CP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BMP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMP4 gene promoter:

Genomic Locations for BMP4 Gene

Genomic Locations for BMP4 Gene
chr14:53,949,736-53,958,761
(GRCh38/hg38)
Size:
9,026 bases
Orientation:
Minus strand
chr14:54,416,454-54,425,479
(GRCh37/hg19)

Genomic View for BMP4 Gene

Genes around BMP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP4 Gene

Proteins for BMP4 Gene

  • Protein details for BMP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12644-BMP4_HUMAN
    Recommended name:
    Bone morphogenetic protein 4
    Protein Accession:
    P12644
    Secondary Accessions:
    • Q9UM80

    Protein attributes for BMP4 Gene

    Size:
    408 amino acids
    Molecular mass:
    46555 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Interacts with GREM2. Part of a complex consisting of TWSG1 and CHRD. Interacts with the serine proteases, HTRA1 and HTRA3; the interaction with either inhibits BMP4-mediated signaling. The HTRA protease activity is required for this inhibition (By similarity). Interacts with SOSTDC1. Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631).

neXtProt entry for BMP4 Gene

Post-translational modifications for BMP4 Gene

  • Glycosylation at posLast=143143, posLast=208208, Asn350, and Asn365

Protein Products

  • Abcam proteins for BMP4

No data available for DME Specific Peptides for BMP4 Gene

Domains & Families for BMP4 Gene

Gene Families for BMP4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for BMP4 Gene

Graphical View of Domain Structure for InterPro Entry

P12644

UniProtKB/Swiss-Prot:

BMP4_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with BMP4: view

Function for BMP4 Gene

Molecular function for BMP4 Gene

GENATLAS Biochemistry:
bone morphogenetic protein 4 (Drosophila decapentaplegic-Vg-related,DVR family;TGFB superfamily),BMP4 expression under MSX2 control,inducing ventralizing signals inhibited by noggin,also inducing apoptosis and chondrogenesis in the chick limb bud,inhibited by FGF4,regulating myogenesis through dosage-dependent PAX3 expression in pre-myogenic cells
UniProtKB/Swiss-Prot Function:
Induces cartilage and bone formation. Also act in mesoderm induction, tooth development, limb formation and fracture repair. Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity).

LifeMap Function Summary for BMP4 Gene

During embryonic development, BMP4 as signaling molecule is secreted from the following cells
It affects the following cells:
BMP4 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for BMP4 Gene

Gene Ontology (GO) - Molecular Function for BMP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005125 cytokine activity IDA 14749725
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 8413626
GO:0008083 growth factor activity IEA --
GO:0008201 heparin binding IEA --
genes like me logo Genes that share ontologies with BMP4: view
genes like me logo Genes that share phenotypes with BMP4: view

Human Phenotype Ontology for BMP4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMP4 Gene

MGI Knock Outs for BMP4:

Animal Model Products

miRNA for BMP4 Gene

miRTarBase miRNAs that target BMP4

Clone Products

  • Addgene plasmids for BMP4

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BMP4 Gene

Localization for BMP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP4 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMP4 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BMP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space ISS --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with BMP4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP4 Gene

Pathways & Interactions for BMP4 Gene

genes like me logo Genes that share pathways with BMP4: view

SIGNOR curated interactions for BMP4 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BMP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0000186 activation of MAPKK activity IDA 17600318
GO:0001501 skeletal system development IEA --
GO:0001503 ossification IEA --
GO:0001525 angiogenesis IEA --
genes like me logo Genes that share ontologies with BMP4: view

Drugs & Compounds for BMP4 Gene

(25) Drugs for BMP4 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra Target 0

(21) Additional Compounds for BMP4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BMP4: view

Transcripts for BMP4 Gene

Unigene Clusters for BMP4 Gene

Bone morphogenetic protein 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for BMP4

Alternative Splicing Database (ASD) splice patterns (SP) for BMP4 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c · 5d · 5e · 5f
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - - - - - -
SP5: - -
SP6:
SP7: -

Relevant External Links for BMP4 Gene

GeneLoc Exon Structure for
BMP4
ECgene alternative splicing isoforms for
BMP4

Expression for BMP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BMP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BMP4 Gene

This gene is overexpressed in Tlymphocyte (40.5) and Heart (28.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BMP4 Gene



Protein tissue co-expression partners for BMP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BMP4 Gene:

BMP4

SOURCE GeneReport for Unigene cluster for BMP4 Gene:

Hs.68879

mRNA Expression by UniProt/SwissProt for BMP4 Gene:

P12644-BMP4_HUMAN
Tissue specificity: Expressed in the lung and lower levels seen in the kidney. Present also in normal and neoplastic prostate tissues, and prostate cancer cell lines.

Evidence on tissue expression from TISSUES for BMP4 Gene

  • Intestine(4.7)
  • Bone(2.8)
  • Muscle(2.8)
  • Heart(2.7)
  • Lung(2.4)
  • Skin(2.3)
  • Nervous system(2.3)
  • Eye(2.2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
Pelvis:
  • testicle
  • urinary bladder
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with BMP4: view

No data available for mRNA differential expression in normal tissues for BMP4 Gene

Orthologs for BMP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMP4 33 34
  • 99.92 (n)
dog
(Canis familiaris)
Mammalia BMP4 33 34
  • 95.02 (n)
cow
(Bos Taurus)
Mammalia BMP4 33 34
  • 94.28 (n)
mouse
(Mus musculus)
Mammalia Bmp4 33 16 34
  • 92.55 (n)
rat
(Rattus norvegicus)
Mammalia Bmp4 33
  • 92.14 (n)
oppossum
(Monodelphis domestica)
Mammalia BMP4 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMP4 33 34
  • 79.38 (n)
lizard
(Anolis carolinensis)
Reptilia BMP4 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmp4 33
  • 76.05 (n)
Str.490 33
zebrafish
(Danio rerio)
Actinopterygii bmp4 33 34
  • 69.64 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta dpp 35 34
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea dbl-1 35
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
Species where no ortholog for BMP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BMP4 Gene

ENSEMBL:
Gene Tree for BMP4 (if available)
TreeFam:
Gene Tree for BMP4 (if available)

Paralogs for BMP4 Gene

Paralogs for BMP4 Gene

genes like me logo Genes that share paralogs with BMP4: view

Variants for BMP4 Gene

Sequence variations from dbSNP and Humsavar for BMP4 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs121912765 pathogenic, Microphthalmia syndromic 6, Microphthalmia, syndromic, 6 (MCOPS6) [MIM:607932] 53,951,945(-) T/C coding_sequence_variant, missense_variant
rs121912766 pathogenic, Orofacial cleft 11, Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] 53,950,222(-) G/A coding_sequence_variant, missense_variant
rs121912767 pathogenic, Orofacial cleft 11, Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] 53,951,951(-) G/C coding_sequence_variant, missense_variant
rs121912768 pathogenic, Orofacial cleft 11, Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] 53,950,399(-) C/A/T coding_sequence_variant, missense_variant
rs140085940 uncertain-significance, Syndromic Microphthalmia, Dominant, Orofacial cleft, Cleft Lip +/- Cleft Palate, Autosomal Dominant, BMP4-Related Syndromic Microphthalmia 53,949,883(-) CT/ 3_prime_UTR_variant

Variation tolerance for BMP4 Gene

Residual Variation Intolerance Score: 56.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.75; 91.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BMP4 Gene

Human Gene Mutation Database (HGMD)
BMP4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BMP4 Gene

Disorders for BMP4 Gene

MalaCards: The human disease database

(35) MalaCards diseases for BMP4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BMP4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BMP4_HUMAN
  • Microphthalmia, syndromic, 6 (MCOPS6) [MIM:607932]: A disease characterized by microphthalmia/anophthalmia associated with facial, genital, skeletal, neurologic and endocrine anomalies. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. {ECO:0000269 PubMed:18252212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625]: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. {ECO:0000269 PubMed:19249007}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for BMP4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BMP4: view

No data available for Genatlas for BMP4 Gene

Publications for BMP4 Gene

  1. Cloning and sequence of bone morphogenetic protein 4 (BMP-4) from a human placental cDNA library. (PMID: 7579580) Oida S … Sasaki S (DNA sequence : the journal of DNA sequencing and mapping 1995) 2 3 4 22 58
  2. Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. (PMID: 19249007) Suzuki S … Murray JC (American journal of human genetics 2009) 3 4 44 58
  3. A predicted functional single-nucleotide polymorphism of bone morphogenetic protein-4 gene affects mRNA expression and shows a significant association with cutaneous melanoma in Southern Italian population. (PMID: 19557432) Capasso M … Iolascon A (Journal of cancer research and clinical oncology 2009) 3 22 44 58
  4. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. (PMID: 18252212) Bakrania P … Ragge NK (American journal of human genetics 2008) 3 4 22 58
  5. Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs). (PMID: 12404109) Felder B … Koch MC (European journal of human genetics : EJHG 2002) 3 4 44 58

Products for BMP4 Gene

  • Addgene plasmids for BMP4

Sources for BMP4 Gene