Gene: GDF5

Alternate names for this Gene: BDA1C|BMP-14|BMP14|CDMP1|DUPANS|LAP-4|LAP4|OS5|SYM1B|SYNS2

Gene 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 gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: growth differentiation factor 5

Type of Gene: protein-coding

rs143384 in GDF5 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs143383 in GDF5 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 30166351 2018 Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs143384 in GDF5 gene and Body Weight PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

rs28936397 in GDF5 gene and Brachydactyly type C PMID 25092592 2014 Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C.

PMID 25820810 2015 Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C.

PMID 14735582 2004 Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

PMID 22828468 2012 "A novel mutation in CDMP1 causes brachydactyly type C with ""angel-shaped phalanx"". A genotype-phenotype correlation in the mutational spectrum."

rs143384 in GDF5 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs143383 in GDF5 gene and Height PMID 18193045 2008 Common variants in the GDF5-UQCC region are associated with variation in human height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

rs143384 in GDF5 gene and Hip Dysplasia, Congenital, Nonsyndromic PMID 30273415 2018 Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5.

rs143384 in GDF5 gene and Hip circumference PMID 25673412 2015 New genetic loci link adipose and insulin biology to body fat distribution.

rs143384 in GDF5 gene and Infant length PMID 25281659 2015 A novel common variant in DCST2 is associated with length in early life and height in adulthood.

rs143384 in GDF5 gene and Knee pain PMID 31482140 2019 Genome-wide association study of knee pain identifies associations with GDF5 and COL27A1 in UK Biobank.

rs143384 in GDF5 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs143383 in GDF5 gene and Osteoarthritis, Knee PMID 30664745 2019 Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.

PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.

rs224333 in GDF5 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs224334 in GDF5 gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs224334 in GDF5 gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs143384 in GDF5 gene and Vital capacity PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs143384 in GDF5 gene and Waist-Hip Ratio PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs143384 in GDF5 gene and peak expiratory flow (procedure) PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.