GDF2
entrez
2658
canonical
uniprot
Q9UK05
canonical
ensembl
ENSG00000263761
resolver
ensp
ENSP00000463051
resolver
enst
ENST00000581492
resolver
genesymbol
GDF2
resolver
genesymbol_syn
BMP9
resolver
hgnc
HGNC:4217
resolver
uniprot
B2RC63
resolver
uniprot
Q5VSQ9
resolver
uniprot
Q9Y571
resolver
uniprot_entry
B2RC63_HUMAN
resolver
uniprot_entry
GDF2_HUMAN
resolver
uniprot_sec
Q5VSQ9
resolver
uniprot_sec
Q9Y571
resolver
amino_acid_sequence
MCPGALWVALPLLSLLAGSLQGKPLQSWGRGSAGGNAHSPLGVPGGGLPEHTFNLKMFLENVKVDFLRSLNLSGVPSQDKTRVEPPQYMIDLYNRYTSDKSTTPASNIVRSFSMEDAISITATEDFPFQKHILLFNISIPRHEQITRAELRLYVSCQNHVDPSHDLKGSVVIYDVLDGTDAWDSATETKTFLVSQDIQDEGWETLEVSSAVKRWVRSDSTKSKNKLEVTVESHRKGCDTLDISVPPGSRNLPFFVVFSNDHSSGTKETRLELREMISHEQESVLKKLSKDGSTEAGESSHEEDTDGHVAAGSTLARRKRSAGAGSHCQKTSLRVNFEDIGWDSWIIAPKEYEAYECKGGCFFPLADDVTPTKHAIVQTLVHLKFPTKVGKACCVPTKLSPISVLYKDDMGVPTLKYHYEGMSVAECGCR
uniprot
proteins
disease_involvement
DISEASE: Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. {ECO:0000269|PubMed:23972370}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG. {ECO:0000269|PubMed:18309101, ECO:0000269|PubMed:21710321, ECO:0000269|PubMed:22799562, ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:25237187}.
uniprot
proteins
mass_dalton
47320
uniprot
proteins
post_translational_modification
PTM: A reversible disulfide bond can be formed between the two subunits in the homodimer; this has no effect on GDF2 activity. {ECO:0000269|PubMed:25237187}.
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15851468
uniprot
proteins
pubmed
18309101
uniprot
proteins
pubmed
20628059
uniprot
proteins
pubmed
21710321
uniprot
proteins
pubmed
21737454
uniprot
proteins
pubmed
22347366
uniprot
proteins
pubmed
22718755
uniprot
proteins
pubmed
22799562
uniprot
proteins
pubmed
23300529
uniprot
proteins
pubmed
23972370
uniprot
proteins
pubmed
25237187
uniprot
proteins
pubmed
25751889
uniprot
proteins
pubmed
28564608
uniprot
proteins
sequence_length
429
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:18309101, ECO:0000269|PubMed:21710321, ECO:0000269|PubMed:25237187}.
uniprot
proteins