BMP4
entrez
652
canonical
uniprot
P12644
canonical
ensembl
ENSG00000125378
resolver
ensp
ENSP00000245451
resolver
ensp
ENSP00000394165
resolver
ensp
ENSP00000453485
resolver
ensp
ENSP00000454134
resolver
ensp
ENSP00000560864
resolver
ensp
ENSP00000560865
resolver
ensp
ENSP00000560866
resolver
ensp
ENSP00000560867
resolver
ensp
ENSP00000560868
resolver
ensp
ENSP00000560869
resolver
ensp
ENSP00000560870
resolver
ensp
ENSP00000560871
resolver
ensp
ENSP00000609895
resolver
ensp
ENSP00000609896
resolver
ensp
ENSP00000609897
resolver
ensp
ENSP00000609898
resolver
ensp
ENSP00000609899
resolver
ensp
ENSP00000609900
resolver
ensp
ENSP00000621435
resolver
enst
ENST00000245451
resolver
enst
ENST00000417573
resolver
enst
ENST00000558984
resolver
enst
ENST00000559087
resolver
enst
ENST00000890805
resolver
enst
ENST00000890806
resolver
enst
ENST00000890807
resolver
enst
ENST00000890808
resolver
enst
ENST00000890809
resolver
enst
ENST00000890810
resolver
enst
ENST00000890811
resolver
enst
ENST00000890812
resolver
enst
ENST00000939836
resolver
enst
ENST00000939837
resolver
enst
ENST00000939838
resolver
enst
ENST00000939839
resolver
enst
ENST00000939840
resolver
enst
ENST00000939841
resolver
enst
ENST00000951376
resolver
genesymbol
BMP4
resolver
genesymbol_syn
BMP2B
resolver
genesymbol_syn
DVR4
resolver
hgnc
HGNC:1071
resolver
uniprot
Q53XC5
resolver
uniprot
Q9UM80
resolver
uniprot_entry
BMP4_HUMAN
resolver
uniprot_entry
Q53XC5_HUMAN
resolver
uniprot_sec
Q9UM80
resolver
amino_acid_sequence
MIPGNRMLMVVLLCQVLLGGASHASLIPETGKKKVAEIQGHAGGRRSGQSHELLRDFEATLLQMFGLRRRPQPSKSAVIPDYMRDLYRLQSGEEEEEQIHSTGLEYPERPASRANTVRSFHHEEHLENIPGTSENSAFRFLFNLSSIPENEVISSAELRLFREQVDQGPDWERGFHRINIYEVMKPPAEVVPGHLITRLLDTRLVHHNVTRWETFDVSPAVLRWTREKQPNYGLAIEVTHLHQTRTHQGQHVRISRSLPQGSGNWAQLRPLLVTFGHDGRGHALTRRRRAKRSPKHHSQRARKKNKNCRRHSLYVDFSDVGWNDWIVAPPGYQAFYCHGDCPFPLADHLNSTNHAIVQTLVNSVNSSIPKACCVPTELSAISMLYLDEYDKVVLKNYQEMVVEGCGCR
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including neurogenesis, vascular development, angiogenesis and osteogenesis (PubMed:31363885). Acts in concert with PTHLH/PTHRP to stimulate ductal outgrowth during embryonic mammary development and to inhibit hair follicle induction (By similarity). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:25868050, PubMed:8006002). Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes (PubMed:25868050, PubMed:29212066). Positively regulates the expression of odontogenic development regulator MSX1 via inducing the IPO7-mediated import of SMAD1 to the nucleus (By similarity). Required for MSX1-mediated mesenchymal molar tooth bud development beyond the bud stage, via promoting Wnt signaling (By similarity). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, expression is repressed during the bell stage by MSX1-mediated inhibition of CTNNB1 signaling (By similarity). Able to induce its own expression in dental mesenchymal cells and also in the neighboring dental epithelial cells via an MSX1-mediated pathway (By similarity). Can also signal through non-canonical BMP pathways such as ERK/MAP kinase, PI3K/Akt, or SRC cascades (PubMed:31363885). For example, induces SRC phosphorylation which, in turn, activates VEGFR2, leading to an angiogenic response (PubMed:31363885). {ECO:0000250|UniProtKB:P21275, ECO:0000269|PubMed:25868050, ECO:0000269|PubMed:29212066, ECO:0000269|PubMed:31363885, ECO:0000269|PubMed:8006002}.
uniprot
proteins
mass_dalton
46555
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
12404109
uniprot
proteins
pubmed
15020244
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18184661
uniprot
proteins
pubmed
18252212
uniprot
proteins
pubmed
18305125
uniprot
proteins
pubmed
18339631
uniprot
proteins
pubmed
19249007
uniprot
proteins
pubmed
25868050
uniprot
proteins
pubmed
26091039
uniprot
proteins
pubmed
29212066
uniprot
proteins
pubmed
31363885
uniprot
proteins
pubmed
3201241
uniprot
proteins
pubmed
33308444
uniprot
proteins
pubmed
7579580
uniprot
proteins
pubmed
8006002
uniprot
proteins
pubmed
9701626
uniprot
proteins
sequence_length
408
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
uniprot
proteins