Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8200
Gene name	Growth differentiation factor 5
Gene symbol	GDF5
Synonyms (NCBI Gene)	BDA1CBMP-14BMP14CDMP1DUPANSLAP-4LAP4OS5SYM1BSYNS2
Chromosome	20
Chromosome location	20q11.22
Summary	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

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143383	G>A	Risk-factor, benign	Intron variant, 5 prime UTR variant
rs28936397	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs753691079	CCC>-,CCCC	Pathogenic	Coding sequence variant, inframe deletion, frameshift variant
rs761962752	->G	Pathogenic	Coding sequence variant, frameshift variant
rs778834209	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs886042462	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1194065564	G>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1555823599	G>-	Risk-factor, benign	Intron variant, 5 prime UTR variant

Show/Hide all (98)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017506	hsa-miR-335-5p	Microarray	18185580
MIRT054572	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	24577233
MIRT054572	hsa-miR-21-5p	Luciferase reporter assayqRT-PCRWestern blot	24577233
MIRT732384	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	27583982
MIRT732384	hsa-miR-7-5p	Luciferase reporter assayqRT-PCRWestern blot	27583982
MIRT1015726	hsa-miR-132	CLIP-seq
MIRT1015727	hsa-miR-150	CLIP-seq
MIRT1015728	hsa-miR-212	CLIP-seq
MIRT1015729	hsa-miR-214	CLIP-seq
MIRT1015730	hsa-miR-3156-3p	CLIP-seq
MIRT1015731	hsa-miR-342-3p	CLIP-seq
MIRT1015732	hsa-miR-3619-5p	CLIP-seq
MIRT1015733	hsa-miR-4279	CLIP-seq
MIRT1015734	hsa-miR-4291	CLIP-seq
MIRT1015735	hsa-miR-4301	CLIP-seq
MIRT1015736	hsa-miR-4687-5p	CLIP-seq
MIRT1015737	hsa-miR-4713-5p	CLIP-seq
MIRT1015738	hsa-miR-4768-5p	CLIP-seq
MIRT1015739	hsa-miR-483-3p	CLIP-seq
MIRT1015740	hsa-miR-483-5p	CLIP-seq
MIRT1015741	hsa-miR-532-3p	CLIP-seq
MIRT1015742	hsa-miR-761	CLIP-seq
MIRT1015743	hsa-miR-922	CLIP-seq
MIRT1015744	hsa-miR-942	CLIP-seq
MIRT2234192	hsa-miR-1253	CLIP-seq
MIRT2234193	hsa-miR-125a-3p	CLIP-seq
MIRT2234194	hsa-miR-21	CLIP-seq
MIRT2234195	hsa-miR-224	CLIP-seq
MIRT2234196	hsa-miR-3150b-3p	CLIP-seq
MIRT2234197	hsa-miR-3691-3p	CLIP-seq
MIRT2234198	hsa-miR-3919	CLIP-seq
MIRT2234199	hsa-miR-3929	CLIP-seq
MIRT2234200	hsa-miR-4251	CLIP-seq
MIRT2234201	hsa-miR-4419b	CLIP-seq
MIRT2234202	hsa-miR-4478	CLIP-seq
MIRT2234203	hsa-miR-4493	CLIP-seq
MIRT2234204	hsa-miR-4689	CLIP-seq
MIRT2234205	hsa-miR-4710	CLIP-seq
MIRT2234206	hsa-miR-4726-3p	CLIP-seq
MIRT2234207	hsa-miR-4756-3p	CLIP-seq
MIRT2234208	hsa-miR-4784	CLIP-seq
MIRT2234209	hsa-miR-590-5p	CLIP-seq
MIRT2538226	hsa-miR-1200	CLIP-seq
MIRT2538227	hsa-miR-1261	CLIP-seq
MIRT2538228	hsa-miR-1286	CLIP-seq
MIRT1015727	hsa-miR-150	CLIP-seq
MIRT2538229	hsa-miR-1915	CLIP-seq
MIRT2538230	hsa-miR-1976	CLIP-seq
MIRT2234194	hsa-miR-21	CLIP-seq
MIRT1015729	hsa-miR-214	CLIP-seq
MIRT2234195	hsa-miR-224	CLIP-seq
MIRT1015730	hsa-miR-3156-3p	CLIP-seq
MIRT2538231	hsa-miR-3157-5p	CLIP-seq
MIRT1015732	hsa-miR-3619-5p	CLIP-seq
MIRT2234197	hsa-miR-3691-3p	CLIP-seq
MIRT2538232	hsa-miR-3691-5p	CLIP-seq
MIRT2234198	hsa-miR-3919	CLIP-seq
MIRT2538233	hsa-miR-4252	CLIP-seq
MIRT1015733	hsa-miR-4279	CLIP-seq
MIRT1015734	hsa-miR-4291	CLIP-seq
MIRT1015735	hsa-miR-4301	CLIP-seq
MIRT2538234	hsa-miR-4324	CLIP-seq
MIRT2538235	hsa-miR-4433	CLIP-seq
MIRT2538236	hsa-miR-4471	CLIP-seq
MIRT2538237	hsa-miR-4474-3p	CLIP-seq
MIRT2538238	hsa-miR-4476	CLIP-seq
MIRT2538239	hsa-miR-4677-3p	CLIP-seq
MIRT2538240	hsa-miR-4679	CLIP-seq
MIRT1015736	hsa-miR-4687-5p	CLIP-seq
MIRT2538241	hsa-miR-4691-3p	CLIP-seq
MIRT1015737	hsa-miR-4713-5p	CLIP-seq
MIRT2538242	hsa-miR-4722-5p	CLIP-seq
MIRT2234206	hsa-miR-4726-3p	CLIP-seq
MIRT2538243	hsa-miR-4752	CLIP-seq
MIRT2234207	hsa-miR-4756-3p	CLIP-seq
MIRT1015738	hsa-miR-4768-5p	CLIP-seq
MIRT1015739	hsa-miR-483-3p	CLIP-seq
MIRT1015740	hsa-miR-483-5p	CLIP-seq
MIRT2538244	hsa-miR-513c	CLIP-seq
MIRT2538245	hsa-miR-514b-5p	CLIP-seq
MIRT1015741	hsa-miR-532-3p	CLIP-seq
MIRT2538246	hsa-miR-544b	CLIP-seq
MIRT2234209	hsa-miR-590-5p	CLIP-seq
MIRT2538247	hsa-miR-618	CLIP-seq
MIRT2538248	hsa-miR-665	CLIP-seq
MIRT2538249	hsa-miR-760	CLIP-seq
MIRT1015742	hsa-miR-761	CLIP-seq
MIRT1015743	hsa-miR-922	CLIP-seq
MIRT1015744	hsa-miR-942	CLIP-seq
MIRT1015729	hsa-miR-214	CLIP-seq
MIRT2538231	hsa-miR-3157-5p	CLIP-seq
MIRT1015732	hsa-miR-3619-5p	CLIP-seq
MIRT2538233	hsa-miR-4252	CLIP-seq
MIRT1015734	hsa-miR-4291	CLIP-seq
MIRT2538241	hsa-miR-4691-3p	CLIP-seq
MIRT1015740	hsa-miR-483-5p	CLIP-seq
MIRT1015742	hsa-miR-761	CLIP-seq
MIRT1015743	hsa-miR-922	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
DEAF1	Unknown	24861163
SP1	Unknown	24861163
SP3	Unknown	24861163

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002062	Process	Chondrocyte differentiation	IEA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005515	Function	Protein binding	IPI	16127465, 18339631, 18586671, 19229295, 21543859, 21976273, 24098149
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007178	Process	Cell surface receptor protein serine/threonine kinase signaling pathway	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	TAS	7961761
GO:0007267	Process	Cell-cell signaling	TAS	8589725
GO:0008083	Function	Growth factor activity	IEA
GO:0008083	Function	Growth factor activity	TAS	8589725
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030509	Process	BMP signaling pathway	IBA
GO:0030509	Process	BMP signaling pathway	IDA	21976273, 25092592
GO:0030513	Process	Positive regulation of BMP signaling pathway	IDA	24098149
GO:0032331	Process	Negative regulation of chondrocyte differentiation	IDA	21976273
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IDA	21976273, 24098149
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0036122	Function	BMP binding	IPI	21976273
GO:0040014	Process	Regulation of multicellular organism growth	IEA
GO:0042802	Function	Identical protein binding	IPI	25174448
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043932	Process	Ossification involved in bone remodeling	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IDA	9950587
GO:0051216	Process	Cartilage development	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	21976273, 25092592
GO:0060591	Process	Chondroblast differentiation	IDA	25092592
GO:0090092	Process	Regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	IEA
GO:0097152	Process	Mesenchymal cell apoptotic process	IEA
GO:2001054	Process	Negative regulation of mesenchymal cell apoptotic process	IEA

MIM	HGNC	e!Ensembl
601146	4220	ENSG00000125965

P43026

Protein name

Growth/differentiation factor 5 (GDF-5) (Bone morphogenetic protein 14) (BMP-14) (Cartilage-derived morphogenetic protein 1) (CDMP-1) (Lipopolysaccharide-associated protein 4) (LAP-4) (LPS-associated protein 4) (Radotermin)

Protein 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

PDB

1WAQ , 2BHK , 3EVS , 3QB4 , 5HK5 , 6Z3G , 6Z3H , 6Z3J , 6Z3L , 6Z3M , 7ZJF , 8BWL , 8BWM , 8BWN , 8E3G

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	143 → 345	TGF-beta propeptide	Family
PF00019	TGF_beta	399 → 500	Transforming growth factor beta like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in long bones during embryonic development. Expressed in monocytes (at protein level). {ECO:0000269|PubMed:11276205}.

Sequence

MRLPKLLTFLLWYLAWLDLEFICTVLGAPDLGQRPQGTRPGLAKAEAKERPPLARNVFRP
GGHSYGGGATNANARAKGGTGQTGGLTQPKKDEPKKLPPRPGGPEPKPGHPPQTRQATAR
TVTPKGQLPGGKAPPKAGSVPSSFLLKKAREPGPPREPKEPFRPPPITPHEYMLSLYRTL
SDADRKGGNSSVKLEAGLANTITSFIDKGQDDRGPVVRKQRYVFDISALEKDGLLGAELR
ILRKKPSDTAKPAAPGGGRAAQLKLSSCPSGRQPASLLDVRSVPGLDGSGWEVFDIWKLF
RNFKNSAQLCLELEAWERGRAVDLRGLGFDRAARQVHEKALFLVFGRTKKRDLFFNEIKA
RSGQDDKTVYEYLFSQRRKRRAPLATRQGKRPSKNLKARCSRKALHVNFKDMGWDDWIIA
PLEYEAFHCEGLCEFPLRSHLEPTNHAVIQTLMNSMDPESTPPTCCVPTRLSPISILFID
SANNVVYKQYEDMVVESCGCR

Sequence length

501

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway		Molecules associated with elastic fibres

313

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acromesomelic dysplasia 2B	Pathogenic	rs28936683, rs121909350, rs121909351	RCV000008887 RCV000008901 RCV000008902
Brachydactyly type A1C	Likely pathogenic; Pathogenic	rs74315387, rs397514519	RCV003137503 RCV000032711
Brachydactyly type C	Pathogenic; Likely pathogenic	rs2146579283, rs74315386, rs28936397, rs753691079, rs121909348, rs886039878, rs2146583022	RCV004762142 RCV000008884 RCV000008891 RCV000008892 RCV000008899 RCV000256400 RCV001580269
GDF5-related disorder	Pathogenic	rs778834209	RCV004733110
Grebe syndrome	Likely pathogenic; Pathogenic	rs74315387, rs761962752, rs886042958, rs397514668, rs1568731526, rs2146582931	RCV000008885 RCV000008886 RCV003326704 RCV005237454 RCV000761432 RCV001523788
Multiple synostoses syndrome 2	Likely pathogenic; Pathogenic	rs74315386, rs74315388, rs121909347	RCV003129749 RCV000008894 RCV000008896
Symphalangism, proximal, 1B	Pathogenic	rs28936683, rs74315388, rs74315389, rs121909349	RCV001770033 RCV000008893 RCV000008897 RCV000008900
Type A2 brachydactyly	Pathogenic; Likely pathogenic	rs28936683, rs886042462, rs397514668	RCV000008888 RCV001808729 RCV000033861

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs2146578499, rs2146578527, rs2146578509	-
Acromesomelic dysplasia	Uncertain significance	rs375024998	RCV000319607
Acromesomelic dysplasia 2C, Hunter-Thompson type	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs150686636, rs143383, rs224330, rs224331, rs143384, rs116467702, rs748907807, rs73094730, rs886056643, rs188252641, rs140895068, rs201590447, rs149593773, rs56366915, rs569761315 View all (25 more)	RCV001140805 RCV000344695 RCV000368431 RCV000272161 RCV000407339 RCV000389800 RCV000311454 RCV000371093 RCV000265244 RCV000405996 RCV000384942 RCV000349010 RCV000391346 RCV000383579 RCV000379119 RCV000347449 RCV000391598 RCV000279751 RCV000350412 RCV000343513 RCV000273240 RCV000275290 RCV000391609 RCV000369568 RCV001140927 RCV001007921 RCV001139705 RCV001142324 RCV001140582 RCV001137692 RCV001137813 RCV001140800 RCV001142653 RCV001137920 RCV001140167 RCV001140926 RCV001138444 RCV001138446 RCV001142864 RCV001137807
Brachydactyly	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs150686636, rs143383, rs224330, rs224331, rs143384, rs116467702, rs748907807, rs73094730, rs886056643, rs188252641, rs140895068, rs201590447, rs149593773, rs56366915, rs569761315 View all (25 more)	RCV001140806 RCV000385268 RCV000262013 RCV000360890 RCV000314053 RCV000381751 RCV000404610 RCV000263658 RCV000316573 RCV000323343 RCV000284658 RCV000296359 RCV000404947 RCV000329266 RCV000336256 RCV000339302 RCV000282198 RCV000329656 RCV000379800 RCV000389530 RCV000282553 RCV000307218 RCV000276702 RCV000304761 RCV000307820 RCV001142765 RCV001139706 RCV001137583 RCV001139809 RCV001142443 RCV001140045 RCV001140799 RCV001137918 RCV001137922 RCV001140165 RCV001140924 RCV001138442 RCV001138447 RCV001142862 RCV001137808
Chondrodysplasia	Uncertain significance	rs375024998	RCV000386464
Osteoarthritis susceptibility 5	Benign; Uncertain significance	rs143383, rs2515426507	RCV004576895 RCV003990683
Symphalangism-brachydactyly syndrome	Uncertain significance	rs375024998	RCV000371869

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidemia isovaleric	Associate	25755766
Acromesomelic dysplasia	Associate	15805157, 26105076, 29322508
Brachydactyly	Associate	23483675, 35819086
Brachydactyly type A2	Associate	16014698, 33486847
Brachydactyly Type B1	Associate	17668388
Brachydactyly type C	Associate	16532400, 23483675, 35819086
Breast Neoplasms	Associate	23226264
Bursitis	Associate	20633687
Carcinoma Squamous Cell	Associate	27151703
Cartilage Diseases	Associate	28481944
Chondrodysplasia Grebe type	Associate	19038017
Developmental Dysplasia of the Hip	Associate	21542882, 31338995, 34203285
Fibrocartilaginous embolism	Associate	24105021, 26739524, 27385596
Flatfoot	Associate	19127394, 35487415
Foot Deformities	Associate	16005596, 19127394
Hand Foot Syndrome	Associate	16005596
Heart defects limb shortening	Associate	25174448
Hip Dislocation	Associate	18947434
Hip Dislocation Congenital	Associate	18947434, 20633687, 24861163
Hip Fractures	Associate	31053729
Hyperostosis Diffuse Idiopathic Skeletal	Associate	37156767
Hypertrophy	Associate	23388029
Inflammation	Associate	28676856, 36823651
Intervertebral Disc Degeneration	Associate	25755766, 26739524
Intervertebral Disc Degeneration	Inhibit	39287911
Intervertebral disc disease	Associate	21542882, 24105021, 24861163
Joint Instability	Associate	35896673
Kashin Beck Disease	Associate	25072641
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	26105076
Neoplasms	Associate	23226264
Obesity	Associate	30777926, 34872017
Osteoarthritis	Associate	18947434, 19565498, 20499385, 20633687, 20939878, 21281725, 21400473, 21936909, 22905146, 22929025, 23357225, 23825960, 24466161, 24561281, 24716474 View all (12 more)
Osteoarthritis	Inhibit	22929025, 35508470
Osteoarthritis Knee	Associate	21542882, 21936909, 22102359, 22615457, 24861163, 27696742, 30777926, 36089590
Osteochondrodysplasias	Associate	15805157
Patellofemoral Pain Syndrome	Associate	31482140
Salivary Gland Adenoma Pleomorphic	Associate	24398992
Squamous Cell Carcinoma of Head and Neck	Associate	27151703
Synostosis	Associate	16532400
Tendinopathy	Associate	24861163
Testicular Germ Cell Tumor	Associate	21233139

GDF5 (growth differentiation factor 5)