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Aliases for GDF5 Gene

Aliases for GDF5 Gene

  • Growth Differentiation Factor 5 2 3
  • CDMP1 3 4 6
  • 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
  • CDMP-1 3 4
  • BDA1C 3 6
  • SYM1B 3 6
  • SYNS2 3 6
  • BMP14 3 4
  • LAP-4 3 4
  • OS5 3 6
  • Cartilage-Derived Morphogenetic Protein 1 4
  • Growth/Differentiation Factor 5 3
  • GDF-5 4
  • LAP4 3

External Ids for GDF5 Gene

Summaries for GDF5 Gene

Entrez Gene Summary for GDF5 Gene

  • The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. This group of proteins is characterized by a polybasic proteolytic processing site which is cleaved to produce a mature protein containing seven conserved cysteine residues. The members of this family are regulators of cell growth and differentiation in both embryonic and adult tissues. Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type. These associations confirm that the gene product plays a role in skeletal development. [provided by RefSeq, Jul 2008]

GeneCards Summary for GDF5 Gene

GDF5 (Growth Differentiation Factor 5) is a Protein Coding gene. Diseases associated with GDF5 include du pan syndrome and multiple synostoses syndrome 2. Among its related pathways are NF-KappaB Family Pathway and NF-KappaB Family Pathway. GO annotations related to this gene include cytokine activity and growth factor activity. An important paralog of this gene is BMP2.

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

Genomic Location for GDF5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GDF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GDF5 Gene

Regulatory Elements 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.

    Three dimensional structures from OCA and Proteopedia for GDF5 Gene

neXtProt entry for GDF5 Gene

Proteomics data for GDF5 Gene at MOPED

Post-translational modifications for GDF5 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn189

Other Protein References for GDF5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GDF5 Gene

Domains for GDF5 Gene

UniProtKB/Swiss-Prot:

GDF5_HUMAN
Family:
  • Belongs to the TGF-beta family.:
    • P43026
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 --
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005515 protein binding IPI 16127465
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with GDF5: view
genes like me logo Genes that share phenotypes with GDF5: view

miRNA for GDF5 Gene

miRTarBase miRNAs that target GDF5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for GDF5 Gene COMPARTMENTS Subcellular localization image for GDF5 gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 2
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 IBA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with GDF5: view

Pathways 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 --
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

Compounds for GDF5 Gene

(4) Novoseek inferred chemical compound relationships for GDF5 Gene

Compound -log(P) Hits PubMed IDs
glycosaminoglycan 42.8 2
cysteine 6.91 2
threonine 2.88 2
tyrosine 0 1
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:

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 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 (12.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GDF5 Gene

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 expressions with GDF5: view

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 36
  • 99.53 (n)
  • 99.2 (a)
GDF5 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GDF5 36
  • 94.1 (n)
  • 96.25 (a)
GDF5 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GDF5 36
  • 93.85 (n)
  • 96.79 (a)
GDF5 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gdf5 36
  • 90.17 (n)
  • 91.52 (a)
Gdf5 16
Gdf5 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GDF5 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gdf5 36
  • 89.7 (n)
  • 91.31 (a)
chicken
(Gallus gallus)
Aves GDF5 36
  • 66.53 (n)
  • 69.9 (a)
GDF5 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GDF5 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gdf5 36
  • 60.7 (n)
  • 63.41 (a)
zebrafish
(Danio rerio)
Actinopterygii gdf5 36
  • 65.79 (n)
  • 65.53 (a)
gdf5 37
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dpp 37
  • 18 (a)
OneToMany
Species with no ortholog for GDF5:
  • 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

Paralogs for GDF5 Gene

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

Variants for GDF5 Gene

Sequence variations from dbSNP and Humsavar for GDF5 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs143383 other 35,438,203(-) GCGGT(C/T)GGCTT utr-variant-5-prime, upstream-variant-2KB
rs143384 -- 35,437,976(-) ACCTT(C/T)GCTGC utr-variant-5-prime
rs224330 -- 35,434,398(+) AGGGC(C/T)TTCTC reference, synonymous-codon
rs224331 - 35,434,589(+) CAAGG(A/C)GGCCG reference, missense
rs224332 -- 35,434,874(+) CTCCC(A/C)GTCCA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833963 CNV Gain 17160897

Relevant External Links for GDF5 Gene

HapMap Linkage Disequilibrium report
GDF5
Human Gene Mutation Database (HGMD)
GDF5

Disorders for GDF5 Gene

(9) OMIM Diseases for GDF5 Gene (601146)

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. 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}. 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.
  • 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.
  • 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.15}. 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.
  • 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. Note=Disease susceptibility is associated with variations 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. {ECO:0000269 PubMed:20683927, ECO:0000269 PubMed:24098149}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for GDF5 Gene

Disease -log(P) Hits PubMed IDs
brachydactyly, type a2 94.1 4
brachydactyly, type c 93.8 5
grebe chondrodysplasia 88.7 1
brachydactyly 63 2
osteoarthritis 60.6 27

Relevant External Links for GDF5

Genetic Association Database (GAD)
GDF5
Human Genome Epidemiology (HuGE) Navigator
GDF5
genes like me logo Genes that share disorders with GDF5: view

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 23 49
  2. GDF5 is a second locus for multiple-synostosis syndrome. (PMID: 16532400) Dawson K. … Krakow D. (Am. J. Hum. Genet. 2006) 3 4 23
  3. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. (PMID: 16127465) Seemann P. … Mundlos S. (J. Clin. Invest. 2005) 3 4 23
  4. An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. (PMID: 17616513) Southam L. … Loughlin J. (Hum. Mol. Genet. 2007) 3 23 49
  5. The growth differentiation factor 5 (GDF5) core promoter polymorphism is not associated with knee osteoarthritis in the Greek population. (PMID: 17676627) Tsezou A. … Malizos K.N. (J. Orthop. Res. 2008) 3 23 49

Products for GDF5 Gene

Sources for GDF5 Gene

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