BMP2
entrez
650
canonical
uniprot
P12643
canonical
ensembl
ENSG00000125845
resolver
ensp
ENSP00000368104
resolver
ensp
ENSP00000606935
resolver
ensp
ENSP00000623501
resolver
ensp
ENSP00000623502
resolver
enst
ENST00000378827
resolver
enst
ENST00000936876
resolver
enst
ENST00000953442
resolver
enst
ENST00000953443
resolver
genesymbol
BMP2
resolver
genesymbol_syn
BMP2A
resolver
hgnc
HGNC:1069
resolver
uniprot_entry
BMP2_HUMAN
resolver
amino_acid_sequence
MVAGTRCLLALLLPQVLLGGAAGLVPELGRRKFAAASSGRPSSQPSDEVLSEFELRLLSMFGLKQRPTPSRDAVVPPYMLDLYRRHSGQPGSPAPDHRLERAASRANTVRSFHHEESLEELPETSGKTTRRFFFNLSSIPTEEFITSAELQVFREQMQDALGNNSSFHHRINIYEIIKPATANSKFPVTRLLDTRLVNQNASRWESFDVTPAVMRWTAQGHANHGFVVEVAHLEEKQGVSKRHVRISRSLHQDEHSWSQIRPLLVTFGHDGKGHPLHKREKRQAKHKQRKRLKSSCKRHPLYVDFSDVGWNDWIVAPPGYHAFYCHGECPFPLADHLNSTNHAIVQTLVNSVNSKIPKACCVPTELSAISMLYLDENEKVVLKNYQDMVVEGCGCR
uniprot
proteins
disease_involvement
DISEASE: Brachydactyly A2 (BDA2) [MIM:112600]: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially. {ECO:0000269|PubMed:19327734, ECO:0000269|PubMed:21357617}. Note=The gene represented in this entry is involved in disease pathogenesis. Duplications of a cis-regulatory element located approximately 110 kb downstream of BMP2 have been found in BDA2 families. They likely cause altered BMP2 expression with pathological consequences. {ECO:0000269|PubMed:19327734, ECO:0000269|PubMed:21357617}.; DISEASE: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 (SSFSC1) [MIM:617877]: An autosomal dominant disorder characterized by short stature, facial dysmorphism, skeletal anomalies, and variable cardiac defects. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract. {ECO:0000269|PubMed:29198724}. 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 cardiogenesis, neurogenesis, and osteogenesis (PubMed:18436533, PubMed:24362451, PubMed:31019025). Induces cartilage and bone formation (PubMed:3201241). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:15064755, PubMed:17295905, PubMed:18436533). Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A (PubMed:7791754). 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. Also acts to promote expression of HAMP, via the interaction with its receptor BMPR1A/ALK3 (PubMed:31800957). Can also signal through non-canonical pathways such as ERK/MAP kinase signaling cascade that regulates osteoblast differentiation (PubMed:16771708, PubMed:20851880). Also stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A-ATF4 pathway by stimulating EIF2A phosphorylation which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation (PubMed:24362451). 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). {ECO:0000250|UniProtKB:P21274, ECO:0000269|PubMed:15064755, ECO:0000269|PubMed:17295905, ECO:0000269|PubMed:18436533, ECO:0000269|PubMed:20851880, ECO:0000269|PubMed:24362451, ECO:0000269|PubMed:31019025, ECO:0000269|PubMed:31800957, ECO:0000269|PubMed:3201241, ECO:0000269|PubMed:7791754}.
uniprot
proteins
mass_dalton
44702
uniprot
proteins
mutagenesis
MUTAGEN 333; /note="L->P: Complete loss of type I receptor binding."; /evidence="ECO:0000269|PubMed:15064755
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
10074410
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15020244
uniprot
proteins
pubmed
15064755
uniprot
proteins
pubmed
16771708
uniprot
proteins
pubmed
17295905
uniprot
proteins
pubmed
18184661
uniprot
proteins
pubmed
18339631
uniprot
proteins
pubmed
18436533
uniprot
proteins
pubmed
19327734
uniprot
proteins
pubmed
20555025
uniprot
proteins
pubmed
20851880
uniprot
proteins
pubmed
21357617
uniprot
proteins
pubmed
24362451
uniprot
proteins
pubmed
29198724
uniprot
proteins
pubmed
31019025
uniprot
proteins
pubmed
31800957
uniprot
proteins
pubmed
3201241
uniprot
proteins
pubmed
33308444
uniprot
proteins
pubmed
7791754
uniprot
proteins
pubmed
9265423
uniprot
proteins
sequence_length
396
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.
uniprot
proteins