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 homo... See more...

Aliases for GDF5 Gene

Aliases for GDF5 Gene

  • Growth Differentiation Factor 5 2 3 5
  • BMP14 2 3 4
  • CDMP1 2 3 4
  • Cartilage-Derived Morphogenetic Protein-1 2 3
  • Lipopolysaccharide-Associated Protein 4 3 4
  • Growth/Differentiation Factor 5 3 4
  • Bone Morphogenetic Protein 14 3 4
  • LPS-Associated Protein 4 3 4
  • Radotermin 3 4
  • BMP-14 3 4
  • LAP-4 3 4
  • Cartilage-Derived Morphogenetic Protein 1 4
  • DUPANS 3
  • CDMP-1 4
  • BDA1C 3
  • SYM1B 3
  • SYNS2 3
  • GDF-5 4
  • LAP4 3
  • GDF5 5
  • 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 Brachydactyly, Type C and Chondrodysplasia, Grebe Type. Among its related pathways are Degradation of the extracellular matrix and NF-KappaB Family Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and cytokine activity. An important paralog of this gene is GDF6.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GDF5 Gene

Genomics for GDF5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GDF5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J035453 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.4 -441 3.2 SP1 GATAD2A PRDM10 ZNF629 SOX13 IKZF1 NFKBIZ ZNF692 NFRKB RCOR2 CEP250 GDF5 MIR1289-1 lnc-GDF5OS-1 RPL36P4 RBM39 RBM12 ERGIC3 CPNE1 AAR2
GH20J035436 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 600.4 +16.9 16942 4 HNRNPL CTCF ZNF629 KDM1A PRDM1 ZSCAN4 RXRB PATZ1 REST RAD21 GDF5 UQCC1 RBM12 GGT7 NCOA6 RBM39 AAR2 PROCR ERGIC3 CPNE1
GH20J035301 Promoter/Enhancer 2.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.9 +142.9 142894 20.9 HNRNPL CREB1 GATAD2A CTCF ATF7 TEAD4 PRDM10 ZNF629 TFE3 LEF1 UQCC1 EIF6 GDF5 MMP24 NCOA6 FAM83C-AS1 MMP24OS EDEM2 MIR1289-1 CEP250
GH20J035659 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 -208.2 -208192 6.1 HNRNPL CREB1 GATAD2A ATF7 TEAD4 ZNF629 REST PRDM10 TFE3 LEF1 CPNE1 RBM12 lnc-NFS1-2 NFS1 ROMO1 GGT7 PHF20 CEP250 GDF5 MIR1289-1
GH20J035874 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 9.8 -420.8 -420768 2.6 PRDM10 ZNF629 JUND FOXA1 PKNOX1 NR2C1 ZNF501 DPF2 HDAC1 ZNF600 CPNE1 NFS1 RBM39 PHF20 ROMO1 RNU6-937P CNBD2 CEP250 GDF5 MIR1289-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GDF5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GDF5

Top Transcription factor binding sites by QIAGEN in the GDF5 gene promoter:
  • AhR
  • Arnt
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • MyoD

Genomic Locations for GDF5 Gene

Genomic Locations for GDF5 Gene
chr20:35,433,347-35,454,749
(GRCh38/hg38)
Size:
21,403 bases
Orientation:
Minus strand
chr20:34,021,145-34,042,568
(GRCh37/hg19)
Size:
21,424 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 Asn189
  • Modification sites at PhosphoSitePlus

Other Protein References for GDF5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GDF5 Gene

Domains & Families for GDF5 Gene

Gene Families for GDF5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for GDF5 Gene

InterPro:
Blocks:
  • Transforming growth factor beta (TGFb), N-terminal
  • Transforming growth factor beta (TGFb)
  • Growth factor cystine knot superfamily signature
ProtoNet:

Suggested Antigen Peptide Sequences for GDF5 Gene

GenScript: Design optimal peptide antigens:
  • GDF5 (D3YQT0_HUMAN)
  • GDF5 (D3YQY5_HUMAN)
  • GDF5 (D3YQZ2_HUMAN)
  • GDF5 (D3YR12_HUMAN)
  • GDF5 (D3YR58_HUMAN)

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

Function for GDF5 Gene

Molecular function for GDF5 Gene

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).
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)

Phenotypes From GWAS Catalog for GDF5 Gene

Gene Ontology (GO) - Molecular Function for GDF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IEA --
GO:0005125 cytokine activity IBA 21873635
GO:0005515 protein binding IPI 16127465
GO:0008083 growth factor activity TAS,IEA --
GO:0036122 BMP binding IPI 21976273
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDF5

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
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 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 IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GDF5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GDF5 Gene

Pathways & Interactions for GDF5 Gene

PathCards logo

SuperPathways for GDF5 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.62
.62
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with GDF5: view

Pathways by source for GDF5 Gene

1 R&D Systems pathway for GDF5 Gene
54 Qiagen pathways for GDF5 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for GDF5 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for GDF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway IEA --
GO:0007179 transforming growth factor beta receptor signaling pathway TAS 7961761
GO:0007267 cell-cell signaling TAS 8589725
GO:0009612 response to mechanical stimulus IEA --
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation IBA 21873635
genes like me logo Genes that share ontologies with GDF5: view

Drugs & Compounds for GDF5 Gene

(3) Drugs for GDF5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(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

mRNA/cDNA for GDF5 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GDF5

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

No ASD Table

Relevant External Links for GDF5 Gene

GeneLoc Exon Structure 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 and MOPED for GDF5 Gene



Protein tissue co-expression partners for GDF5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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).

Evidence on tissue expression from TISSUES for GDF5 Gene

  • Nervous system(4.5)
  • Bone(2.7)
  • Bone marrow(2.3)
  • Blood(2.3)
  • Muscle(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GDF5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 30 31
  • 99.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GDF5 30 31
  • 94.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GDF5 30 31
  • 93.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gdf5 30 17 31
  • 90.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gdf5 30
  • 89.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia GDF5 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GDF5 30 31
  • 66.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GDF5 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gdf5 30
  • 60.7 (n)
Zebrafish
(Danio rerio)
Actinopterygii gdf5 30 31
  • 65.79 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta dpp 31
  • 18 (a)
OneToMany
Species where no ortholog for GDF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GDF5: view image

Paralogs for GDF5 Gene

(13) SIMAP similar genes for GDF5 Gene using alignment to 13 proteins:

  • GDF5_HUMAN
  • D3YQT0_HUMAN
  • D3YQY5_HUMAN
  • D3YQZ2_HUMAN
  • D3YR12_HUMAN
  • D3YR58_HUMAN
  • D3YR72_HUMAN
  • D3YR76_HUMAN
  • D3YR87_HUMAN
  • D3YRA6_HUMAN
  • D3YRI8_HUMAN
  • F1T0J1_HUMAN
  • Q2NKW7_HUMAN
genes like me logo Genes that share paralogs with GDF5: view

Variants for GDF5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GDF5 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
666166 Pathogenic: not provided 35,437,771(-) AG/A FRAMESHIFT_VARIANT
695733 Benign: not provided 35,434,398(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
695737 Benign: not provided 35,434,589(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
697206 Benign: not provided 35,434,436(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
697958 Likely Benign: not provided 35,434,386(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GDF5 Gene

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)

Additional Variant Information for GDF5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GDF5 Gene

MalaCards: The human disease database

(48) MalaCards diseases for GDF5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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 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.
  • 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.18}. 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. {ECO:0000269 PubMed:17384641}. 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. 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.

Additional Disease Information for GDF5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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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 (Nature genetics 2007) 3 4 23 41
  2. Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. (PMID: 19956691) Seemann P … Mundlos S (PLoS genetics 2009) 3 4 23
  3. Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity. (PMID: 19229295) Kotzsch A … Müller TD (The EMBO journal 2009) 3 4 23
  4. Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. (PMID: 19479880) Evangelou E … Ioannidis JP (Arthritis and rheumatism 2009) 3 23 41
  5. Association of the DVWA and GDF5 polymorphisms with osteoarthritis in UK populations. (PMID: 19054821) Valdes AM … Doherty M (Annals of the rheumatic diseases 2009) 3 23 41

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Sources for GDF5 Gene