GDF5

Description		growth differentiation factor 5
Image
GO Annotations	Cellular Component	Extracellular Region Extracellular Space Plasma Membrane Membrane
	Molecular Function	Signaling Receptor Binding Cytokine Activity Protein Binding Growth Factor Activity BMP Binding Identical Protein Binding
	Biological Process	Chondrocyte Differentiation Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Transforming Growth Factor Beta Receptor Signaling Pathway Cell-cell Signaling Response To Mechanical Stimulus Cell Differentiation 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 Cartilage Development Positive Regulation Of SMAD Protein Signal Transduction Chondroblast Differentiation Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Mesenchymal Cell Apoptotic Process Negative Regulation Of Mesenchymal Cell Apoptotic Process
Pathways		Molecules associated with elastic fibres
Drugs
Diseases		Other brachydactylies, including: Proximal symphalangism; Multiple synostosis syndrome Fibular hypoplasia and complex brachydactyly; DuPan syndrome Grebe dysplasia; Acromesomelic dysplasia Hunter-Thompson type Brachydactyly, including: Brachydactyly type C; Angel shaped phalangoepiphyseal dysplasia (ASPED)
GWAS		A body shape index ( 34021172) Anthropometric traits ( 30166351) Anthropometric traits (multi-trait analysis) ( 30166351) Appendicular lean mass ( 33097823) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Brain morphology (MOSTest) ( 32665545) Femoral neck size ( 31053729) Height ( 18391951 34270706 33713608 31562340 28552196 18391950 18391952 20189936 20881960 23563607 25282103 25429064) Hip bone size ( 31053729) Hip circumference ( 25673412) Hip circumference adjusted for BMI ( 34021172 28552196 25673412) Infant length ( 25281659) Intertrochanteric region size ( 31053729) Joint mobility (Beighton score) ( 27182965) Knee osteoarthritis ( 30374069 30664745) Knee pain ( 31482140) Low hand grip strength (60 years and older) (EWGSOP) ( 33510174) Metabolite levels ( 23823483) Pulse pressure ( 30578418) Refractive error ( 32231278) Spine bone size ( 31053729) Trochanter size ( 31053729) Waist circumference adjusted for body mass index ( 34021172) Waist-hip index ( 34021172) Waist-to-hip ratio adjusted for BMI ( 26426971 34021172) 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) Walking pace ( 33128006) Weight ( 28552196)
Novel Interacting Genes		8 novel interacting genes: ACVR1 ACVR2A ACVR2B BMPR1A BMPR1B BMPR2 CHRDL2 HTRA1
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 7ZJF 8BWL 8BWM 8BWN 8E3G
Enriched GO Terms of Interacting Partners?		Transmembrane Receptor Protein Serine/threonine Kinase Activity BMP Receptor Activity Positive Regulation Of Bone Mineralization Positive Regulation Of Biomineral Tissue Development Positive Regulation Of Ossification Positive Regulation Of Osteoblast Differentiation Regulation Of Bone Mineralization BMP Signaling Pathway Cellular Response To BMP Stimulus Regulation Of Ossification Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Growth Factor Binding Regulation Of Osteoblast Differentiation Transforming Growth Factor Beta Receptor Superfamily Signaling Pathway Cell Surface Receptor Protein Serine/threonine Kinase Signaling Pathway Activin Receptor Activity, Type II BMP Binding Regionalization Cellular Response To Growth Factor Stimulus Positive Regulation Of Transmembrane Receptor Protein Serine/threonine Kinase Signaling Pathway Activin Receptor Signaling Pathway Transforming Growth Factor Beta Receptor Activity, Type I Response To Growth Factor Osteoblast Differentiation Animal Organ Development Positive Regulation Of SMAD Protein Signal Transduction Activin Receptor Complex Mitral Valve Morphogenesis Pattern Specification Process Protein Serine/threonine Kinase Activity Mesoderm Development Receptor Complex Activin Binding Protein Kinase Activity Regulation Of SMAD Protein Signal Transduction Gastrulation With Mouth Forming Second Kinase Activity Enzyme-linked Receptor Protein Signaling Pathway Atrioventricular Valve Morphogenesis Cell Differentiation Regulation Of Activin Receptor Signaling Pathway Outflow Tract Septum Morphogenesis Endothelial Cell Differentiation Positive Regulation Of Cell Differentiation Anterior/posterior Pattern Specification Cellular Developmental Process Ventricular Septum Morphogenesis Regulation Of Signal Transduction Mesoderm Formation Gastrulation
Tagcloud ?