GDF5
entrez
8200
canonical
uniprot
P43026
canonical
ensembl
ENSG00000125965
resolver
ensp
ENSP00000363489
resolver
ensp
ENSP00000363492
resolver
ensp
ENSP00000638569
resolver
enst
ENST00000374369
resolver
enst
ENST00000374372
resolver
enst
ENST00000968510
resolver
genesymbol
GDF5
resolver
genesymbol_syn
BMP14
resolver
genesymbol_syn
CDMP1
resolver
hgnc
HGNC:4220
resolver
uniprot
E1P5Q2
resolver
uniprot
F1T0J1
resolver
uniprot
Q96SB1
resolver
uniprot_entry
F1T0J1_HUMAN
resolver
uniprot_entry
GDF5_HUMAN
resolver
uniprot_sec
E1P5Q2
resolver
uniprot_sec
Q96SB1
resolver
amino_acid_sequence
MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRPGGHSYGGGATNANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATARTVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTLSDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFDISALEKDGLLGAELRILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPAALLDVRSVPGLDGSGWEVFDIWKLFRNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKARSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIAPLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFIDSANNVVYKQYEDMVVESCGCR
uniprot
proteins
disease_involvement
DISEASE: Acromesomelic dysplasia 2A (AMD2A) [MIM:200700]: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2A is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. {ECO:0000269|PubMed:9288098}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Acromesomelic dysplasia 2C (AMD2C) [MIM:201250]: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2C is an autosomal recessive form characterized by skeletal abnormalities restricted to the limbs. The craniofacial skeleton and axial skeletal structures are normal. {ECO:0000269|PubMed:8589725}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Brachydactyly C (BDC) [MIM:113100]: 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. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others. {ECO:0000269|PubMed:14735582, ECO:0000269|PubMed:22828468, ECO:0000269|PubMed:25092592, ECO:0000269|PubMed:25820810}. Note=The disease is caused by variants affecting the gene represented in this entry. Some BDC patients with GDF5 mutations also manifest clinical features of ASPED angel-shaped phalango-epiphyseal dysplasia (ASPED), an autosomal dominant skeletal abnormality characterized by a typical angel-shaped phalanx, brachydactyly, specific radiological findings, abnormal dentition, hip dysplasia, and delayed bone age. This suggests that BDC and ASPED are part of the same clinical spectrum (PubMed:22828468). {ECO:0000269|PubMed:22828468}.; DISEASE: Acromesomelic dysplasia 2B (AMD2B) [MIM:228900]: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2B is an autosomal recessive form characterized by acromesomelic limb shortening with severe reduction or absence of the fibula, and severe hand and feet abnormalities including complex brachydactyly. {ECO:0000269|PubMed:12121354, ECO:0000269|PubMed:16222676, ECO:0000269|PubMed:18629880}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Symphalangism, proximal 1B (SYM1B) [MIM:615298]: A disease characterized by the hereditary absence of the proximal interphalangeal joints. Distal interphalangeal joints are less frequently involved and metacarpophalangeal joints are rarely affected whereas carpal bone malformation and fusion are common. In the lower extremities, tarsal bone coalition is common. Conductive hearing loss is seen and is due to fusion of the stapes to the petrous part of the temporal bone. {ECO:0000269|PubMed:16127465, ECO:0000269|PubMed:16892395, ECO:0000269|PubMed:18283415}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]: A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. {ECO:0000269|PubMed:16532400, ECO:0000269|PubMed:19956691, ECO:0000269|PubMed:21976273, ECO:0000269|PubMed:24098149, ECO:0000269|Ref.19}. Note=The disease is caused by variants affecting the gene represented in this entry.; 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:16127465, ECO:0000269|PubMed:18203755, ECO:0000269|PubMed:21976273}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteoarthritis 5 (OS5) [MIM:612400]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. {ECO:0000269|PubMed:17384641}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Brachydactyly A1, C (BDA1C) [MIM:615072]: A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1C inheritance can be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C has a milder phenotype. {ECO:0000269|PubMed:20683927, ECO:0000269|PubMed:24098149}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signaling transduction (PubMed:15530414, PubMed:21976273, PubMed:24098149, PubMed:25092592). Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG (PubMed:21976273). Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8 (By similarity). Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes (PubMed:11276205). {ECO:0000250|UniProtKB:P43027, ECO:0000269|PubMed:11276205, ECO:0000269|PubMed:15530414, ECO:0000269|PubMed:19229295, ECO:0000269|PubMed:19956691, ECO:0000269|PubMed:21976273, ECO:0000269|PubMed:24098149, ECO:0000269|PubMed:25092592}.
uniprot
proteins
mass_dalton
55395
uniprot
proteins
mutagenesis
MUTAGEN 490; /note="Y->N: Resitant to NOG inhibition."; /evidence="ECO:0000269|PubMed:26643732
uniprot
proteins
protein_family
TGF-beta family
uniprot
proteins
pubmed
11276205
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12121354
uniprot
proteins
pubmed
14735582
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15530414
uniprot
proteins
pubmed
16127465
uniprot
proteins
pubmed
16222676
uniprot
proteins
pubmed
16532400
uniprot
proteins
pubmed
16892395
uniprot
proteins
pubmed
17384641
uniprot
proteins
pubmed
18184661
uniprot
proteins
pubmed
18203755
uniprot
proteins
pubmed
18283415
uniprot
proteins
pubmed
18339631
uniprot
proteins
pubmed
18629880
uniprot
proteins
pubmed
19229295
uniprot
proteins
pubmed
19956691
uniprot
proteins
pubmed
20683927
uniprot
proteins
pubmed
21976273
uniprot
proteins
pubmed
22828468
uniprot
proteins
pubmed
24098149
uniprot
proteins
pubmed
25092592
uniprot
proteins
pubmed
25820810
uniprot
proteins
pubmed
26643732
uniprot
proteins
pubmed
7961761
uniprot
proteins
pubmed
7980526
uniprot
proteins
pubmed
8589725
uniprot
proteins
pubmed
9288098
uniprot
proteins
sequence_length
501
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11276205}. Cell membrane {ECO:0000269|PubMed:11276205}.
uniprot
proteins