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Aliases for GDF5 Gene

Aliases for GDF5 Gene

  • Growth Differentiation Factor 5 2 3 5
  • Cartilage-Derived Morphogenetic Protein-1 2 3
  • Lipopolysaccharide-Associated Protein 4 3 4
  • Bone Morphogenetic Protein 14 3 4
  • LPS-Associated Protein 4 3 4
  • Radotermin 3 4
  • BMP-14 3 4
  • BMP14 3 4
  • CDMP1 3 4
  • LAP-4 3 4
  • Cartilage-Derived Morphogenetic Protein 1 4
  • Growth/Differentiation Factor 5 3
  • CDMP-1 4
  • BDA1C 3
  • SYM1B 3
  • SYNS2 3
  • GDF-5 4
  • LAP4 3
  • OS5 3

External Ids for GDF5 Gene

Previous GeneCards Identifiers for GDF5 Gene

  • GC20M033779
  • GC20M034689
  • GC20M034736
  • GC20M033484
  • GC20M034021
  • GC20M030799

Summaries for GDF5 Gene

Entrez Gene Summary for GDF5 Gene

  • 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. [provided by RefSeq, Aug 2016]

GeneCards Summary for GDF5 Gene

GDF5 (Growth Differentiation Factor 5) is a Protein Coding gene. Diseases associated with GDF5 include Du Pan Syndrome and Chondrodysplasia, Grebe Type. Among its related pathways are Activation of cAMP-Dependent PKA and GPCR Pathway. GO annotations related to this gene include identical protein binding and cytokine activity. An important paralog of this gene is GDF6.

UniProtKB/Swiss-Prot for GDF5 Gene

  • 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:24098149, PubMed:21976273, PubMed:15530414, 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).

Gene Wiki entry for GDF5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GDF5 Gene

Genomics for GDF5 Gene

Regulatory Elements for GDF5 Gene

Enhancers for GDF5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F035301 1.7 FANTOM5 Ensembl ENCODE 17.9 +148.7 148739 9.0 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 UQCC1 NCOA6 GDF5 RPL36P4 MMP24-AS1 EDEM2 MMP24 CEP250 MIR1289-1 RBM12
GH20F035874 1.6 FANTOM5 Ensembl ENCODE 9.8 -420.8 -420772 2.6 PKNOX1 ATF1 SIN3A FEZF1 BRCA1 ZNF2 GTF3C2 KLF7 FOS SP3 CPNE1 RBM12 AAR2 RPL36P4 TRPC4AP NFS1 EIF6 RBM39 TGIF2 PHF20
GH20F035343 1.2 Ensembl ENCODE 10.3 +110.1 110111 1.5 ELF3 HDAC1 CBX3 TBL1XR1 ARID4B ZNF48 RAD21 YY1 GATA2 EGR2 MIR1289-1 CEP250 GDF5 FAM83C UQCC1
GH20F035659 1.2 ENCODE 10.1 -208.1 -208087 5.9 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CPNE1 NCOA6 RBM12 EIF6 NFS1 ROMO1 TRPC4AP PHF20 RPL36P4 CEP250
GH20F035870 1 Ensembl ENCODE 9.8 -417.0 -416954 2.7 TBP ZNF146 TAF1 MAX ZMYM3 ZNF366 ZNF600 ZNF639 ZNF362 ZBTB2 CPNE1 RBM39 PHF20 NFS1 ROMO1 RNU6-937P CEP250 GDF5 MIR1289-1 CNBD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GDF5 on UCSC Golden Path with GeneCards custom track

Promoters for GDF5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000400294 -355 2600 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for GDF5 Gene

Chromosome:
20
Start:
35,433,347 bp from pter
End:
35,454,746 bp from pter
Size:
21,400 bases
Orientation:
Minus strand

Genomic View for GDF5 Gene

Genes around GDF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GDF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GDF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF5 Gene

Proteins for GDF5 Gene

  • Protein details for GDF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43026-GDF5_HUMAN
    Recommended name:
    Growth/differentiation factor 5
    Protein Accession:
    P43026
    Secondary Accessions:
    • E1P5Q2
    • Q96SB1

    Protein attributes for GDF5 Gene

    Size:
    501 amino acids
    Molecular mass:
    55411 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (By similarity). Interacts with serine proteases, HTRA1 and HTRA3 (By similarity). Following LPS binding, may form a complex with CXCR4, HSP90AA1 and HSPA8. Interacts with high affinity with NOG; inhibits chondrogenesis. Interacts with high affinity with BMPR1B and lower affinity with BMPR1A; positively regulates chondrocyte differentiation and induces SMAD dependent signaling. Interacts with FBN1 (via N-terminal domain) and FBN2 (PubMed:18339631).

    Three dimensional structures from OCA and Proteopedia for GDF5 Gene

neXtProt entry for GDF5 Gene

Post-translational modifications for GDF5 Gene

  • Glycosylation at Asn 189
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF5 Gene

Antibody Products

No data available for DME Specific Peptides for GDF5 Gene

Domains & Families for GDF5 Gene

Suggested Antigen Peptide Sequences for GDF5 Gene

Graphical View of Domain Structure for InterPro Entry

P43026

UniProtKB/Swiss-Prot:

GDF5_HUMAN :
  • Belongs to the TGF-beta family.
Family:
  • Belongs to the TGF-beta family.
genes like me logo Genes that share domains with GDF5: view

No data available for Gene Families for GDF5 Gene

Function for GDF5 Gene

Molecular function for GDF5 Gene

GENATLAS Biochemistry:
cartilage derived morphogenetic protein 1,expressed throughout the cartilage core during embryonic long bone development,closely related to bone morphogenetic protein 5 to 7 (TGFB superfamily)
UniProtKB/Swiss-Prot 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:24098149, PubMed:21976273, PubMed:15530414, 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).

Gene Ontology (GO) - Molecular Function for GDF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
GO:0005125 cytokine activity IEA,IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 16127465
GO:0008083 growth factor activity IEA,TAS --
genes like me logo Genes that share ontologies with GDF5: view
genes like me logo Genes that share phenotypes with GDF5: view

Human Phenotype Ontology for GDF5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GDF5 Gene

miRTarBase miRNAs that target GDF5

Inhibitory RNA Products

Clone Products

Cell Line Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GDF5 Gene

Localization for GDF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GDF5 Gene

Secreted. Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GDF5 gene
Compartment Confidence
extracellular 5
plasma membrane 4
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GDF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,IBA --
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GDF5: view

Pathways & Interactions for GDF5 Gene

genes like me logo Genes that share pathways with GDF5: view

Gene Ontology (GO) - Biological Process for GDF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002062 chondrocyte differentiation IEA --
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway TAS 7961761
GO:0007184 SMAD protein import into nucleus IDA 21976273
GO:0007267 cell-cell signaling TAS 8589725
genes like me logo Genes that share ontologies with GDF5: view

No data available for SIGNOR curated interactions for GDF5 Gene

Drugs & Compounds for GDF5 Gene

(4) Drugs for GDF5 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma Target 0

(1) Additional Compounds for GDF5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GDF5: view

Transcripts for GDF5 Gene

Unigene Clusters for GDF5 Gene

Growth differentiation factor 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GDF5 Gene

No ASD Table

Relevant External Links for GDF5 Gene

GeneLoc Exon Structure for
GDF5
ECgene alternative splicing isoforms for
GDF5

Expression for GDF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GDF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GDF5 Gene

This gene is overexpressed in Minor Salivary Gland (x12.4).

Protein differential expression in normal tissues from HIPED for GDF5 Gene

This gene is overexpressed in Monocytes (24.5), CD4 Tcells (22.3), and Heart (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GDF5 Gene



Protein tissue co-expression partners for GDF5 Gene

NURSA nuclear receptor signaling pathways regulating expression of GDF5 Gene:

GDF5

SOURCE GeneReport for Unigene cluster for GDF5 Gene:

Hs.1573

mRNA Expression by UniProt/SwissProt for GDF5 Gene:

P43026-GDF5_HUMAN
Tissue specificity: Predominantly expressed in long bones during embryonic development. Expressed in monocytes (at protein level).
genes like me logo Genes that share expression patterns with GDF5: view

Primer Products

Orthologs for GDF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for GDF5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GDF5 34 35
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia GDF5 34 35
  • 94.1 (n)
dog
(Canis familiaris)
Mammalia GDF5 34 35
  • 93.85 (n)
mouse
(Mus musculus)
Mammalia Gdf5 34 16 35
  • 90.17 (n)
rat
(Rattus norvegicus)
Mammalia Gdf5 34
  • 89.7 (n)
oppossum
(Monodelphis domestica)
Mammalia GDF5 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GDF5 34 35
  • 66.53 (n)
lizard
(Anolis carolinensis)
Reptilia GDF5 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf5 34
  • 60.7 (n)
zebrafish
(Danio rerio)
Actinopterygii gdf5 34 35
  • 65.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta dpp 35
  • 18 (a)
OneToMany
Species where no ortholog for GDF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GDF5 Gene

ENSEMBL:
Gene Tree for GDF5 (if available)
TreeFam:
Gene Tree for GDF5 (if available)

Paralogs for GDF5 Gene

Variants for GDF5 Gene

Sequence variations from dbSNP and Humsavar for GDF5 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs28936397 Brachydactyly C (BDC) [MIM:113100], Pathogenic 35,437,412(-) AGTAC(A/C/G)TGCTC reference, missense
rs28936683 Brachydactyly A2 (BDA2) [MIM:112600], Du Pan syndrome (DPS) [MIM:228900], Multiple synostoses syndrome 2 (SYNS2) [MIM:610017], Pathogenic 35,434,093(-) CCACC(C/T)GGAGC reference, missense
VAR_017407 Acromesomelic chondrodysplasia, Grebe type (AMDG) [MIM:200700]
VAR_026545 Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
VAR_026545 Symphalangism, proximal 1B (SYM1B) [MIM:615298]

Structural Variations from Database of Genomic Variants (DGV) for GDF5 Gene

Variant ID Type Subtype PubMed ID
nsv833963 CNV gain 17160897

Variation tolerance for GDF5 Gene

Residual Variation Intolerance Score: 59.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GDF5 Gene

Human Gene Mutation Database (HGMD)
GDF5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GDF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GDF5 Gene

Disorders for GDF5 Gene

MalaCards: The human disease database

(27) MalaCards diseases for GDF5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
du pan syndrome
  • fibular hypoplasia and complex brachydactyly
chondrodysplasia, grebe type
  • acromesomelic dysplasia, grebe type
brachydactyly, type c
  • brachydactyly type c
brachydactyly, type a2
  • brachydactyly type a2
acromesomelic dysplasia, hunter-thompson type
  • acromesomelic dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search GDF5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GDF5_HUMAN
  • Acromesomelic chondrodysplasia, Grebe type (AMDG) [MIM:200700]: An autosomal recessive acromesomelic chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders 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). AMDG is 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 mutations affecting the gene represented in this entry.
  • Acromesomelic chondrodysplasia, Hunter-Thompson type (AMDH) [MIM:201250]: An autosomal recessive form of dwarfism. Patients have limb abnormalities, with the middle and distal segments being most affected and the lower limbs more affected than the upper. AMDH is characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet. {ECO:0000269 PubMed:8589725}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations 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}.
  • Du Pan syndrome (DPS) [MIM:228900]: Rare autosomal recessive condition characterized by absence of the fibulae and severe acromesomelic limb shortening with small, non-functional toes. Although milder, the phenotype resembles the autosomal recessive Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia. {ECO:0000269 PubMed:12121354, ECO:0000269 PubMed:16222676, ECO:0000269 PubMed:18629880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.18}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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 variations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for GDF5

Genetic Association Database (GAD)
GDF5
Human Genome Epidemiology (HuGE) Navigator
GDF5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GDF5
genes like me logo Genes that share disorders with GDF5: view

No data available for Genatlas for GDF5 Gene

Publications for GDF5 Gene

  1. A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. (PMID: 17384641) Miyamoto Y. … Ikegawa S. (Nat. Genet. 2007) 3 4 22 46 64
  2. Genetic variation in the GDF5 region is associated with osteoarthritis, height, hip axis length and fracture risk: the Rotterdam study. (PMID: 19029166) Vaes R.B. … van Meurs J.B. (Ann. Rheum. Dis. 2009) 3 22 46 64
  3. Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity. (PMID: 19229295) Kotzsch A. … Muller T.D. (EMBO J. 2009) 3 4 22 64
  4. Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. (PMID: 19479880) Evangelou E. … Ioannidis J.P. (Arthritis Rheum. 2009) 3 22 46 64
  5. Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. (PMID: 19956691) Seemann P. … Mundlos S. (PLoS Genet. 2009) 3 4 22 64

Products for GDF5 Gene

Sources for GDF5 Gene

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