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GDF5
Description
growth differentiation factor 5
Image
GO Annotations
Cellular Component
Extracellular Region
Extracellular Space
Plasma Membrane
Molecular Function
Cytokine Activity
Protein Binding
Growth Factor Activity
BMP Binding
Identical Protein Binding
Biological Process
Transforming Growth Factor Beta Receptor Signaling Pathway
Cell-cell Signaling
Response To Mechanical Stimulus
Positive Regulation Of Pathway-restricted SMAD Protein Phosphorylation
Embryonic Limb Morphogenesis
BMP Signaling Pathway
Positive Regulation Of BMP Signaling Pathway
Negative Regulation Of Chondrocyte Differentiation
Positive Regulation Of Chondrocyte Differentiation
Forelimb Morphogenesis
Hindlimb Morphogenesis
Regulation Of Multicellular Organism Growth
Negative Regulation Of Neuron Apoptotic Process
Ossification Involved In Bone Remodeling
Positive Regulation Of Neuron Differentiation
Negative Regulation Of Epithelial Cell Proliferation
Regulation Of SMAD Protein Signal Transduction
SMAD Protein Signal Transduction
Chondroblast Differentiation
Negative Regulation Of Mesenchymal Cell Apoptotic Process
Pathways
Molecules associated with elastic fibres
Drugs
Diseases
Brachydactyly, including: Brachydactyly type C; Angel shaped phalangoepiphyseal dysplasia (ASPED)
Other brachydactylies, including: Proximal symphalangism; Multiple synostosis syndrome
Grebe dysplasia; Acromesomelic dysplasia Hunter-Thompson type
Fibular hypoplasia and complex brachydactyly; DuPan syndrome
GWAS
Anthropometric traits (
30166351
)
Anthropometric traits (multi-trait analysis) (
30166351
)
Blood protein levels (
28240269
)
Body fat distribution (leg fat ratio) (
30664634
)
Body fat distribution (trunk fat ratio) (
30664634
)
Brain morphology (MOSTest) (
32665545
)
Femoral neck size (
31053729
)
Height (
28552196
20881960
25282103
25429064
23563607
31562340
18391950
18391951
18391952
20189936
)
Hip bone size (
31053729
)
Hip circumference (
25673412
)
Hip circumference adjusted for BMI (
28552196
25673412
)
Infant length (
25281659
)
Intertrochanteric region size (
31053729
)
Joint mobility (Beighton score) (
27182965
)
Knee osteoarthritis (
30664745
30374069
)
Knee pain (
31482140
)
Metabolite levels (
23823483
)
Pulse pressure (
30578418
)
Refractive error (
32231278
)
Spine bone size (
31053729
)
Trochanter size (
31053729
)
Waist-to-hip ratio adjusted for BMI (
26426971
)
Waist-to-hip ratio adjusted for BMI (additive genetic model) (
30778226
)
Waist-to-hip ratio adjusted for BMI (age >50) (
26426971
)
Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction) (
28448500
)
Waist-to-hip ratio adjusted for BMI in active individuals (
28448500
)
Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) (
26426971
)
Waist-to-hip ratio adjusted for body mass index (
25673412
28448500
)
Weight (
28552196
)
Interacting Genes
8 interacting genes:
ACVR1
ACVR2A
ACVR2B
BMPR1A
BMPR1B
BMPR2
CHRDL2
HTRA1
Entrez ID
8200
HPRD ID
03092
Ensembl ID
ENSG00000125965
Uniprot IDs
F1T0J1
P43026
PDB IDs
1WAQ
2BHK
3EVS
3QB4
5HK5
6Z3G
6Z3H
6Z3J
6Z3L
6Z3M
Enriched GO Terms of Interacting Partners
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