Gdf5 (growth differentiation factor 5) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: Gdf5 (growth differentiation factor 5) Rattus norvegicus
Analyze
Symbol: Gdf5
Name: growth differentiation factor 5
RGD ID: 620102
Description: Enables signaling receptor binding activity. Involved in several processes, including negative regulation of neuron apoptotic process; ossification involved in bone remodeling; and positive regulation of neuron differentiation. Predicted to be active in extracellular space. Biomarker of Parkinson's disease. Human ortholog(s) of this gene implicated in Parkinson's disease and bone disease (multiple). Orthologous to human GDF5 (growth differentiation factor 5); PARTICIPATES IN transforming growth factor-beta superfamily mediated signaling pathway; INTERACTS WITH 6-propyl-2-thiouracil; bisphenol A; C60 fullerene.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cartilage-derived morphogenetic protein 1; Cdmp1; growth/differentiation factor 5
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83164,914,401 - 164,918,593 (-)NCBIGRCr8
mRatBN7.23144,454,316 - 144,458,508 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3144,454,338 - 144,458,612 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3148,319,762 - 148,323,943 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03156,937,031 - 156,941,212 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03154,676,561 - 154,680,742 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03151,482,672 - 151,487,129 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3151,483,249 - 151,486,693 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03157,849,749 - 157,853,231 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera3143,176,803 - 143,181,254 (-)NCBICelera
Cytogenetic Map3q42NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


1 to 16 of 16 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5Ratacromesomelic dysplasia, Grebe type  ISORGD:134526612437075DNA:insertion mutation:cds:1114insGAGT(human)RGD 
Gdf5Ratacromesomelic dysplasia, Grebe type  ISORGD:134526612487346DNA:missense mutation:cds:c.1285T>C (p.C429R)(human)RGD 
Gdf5Ratacromesomelic dysplasia, Grebe type  ISORGD:134526612437083DNA:missense mutation:cds:c.527T>C(p.L176P)(human)RGD 
Gdf5Ratbrachydactyly type A1  ISORGD:134526612437076DNA:missense mutation:cds:c.1195C>T(human)RGD 
Gdf5Ratbrachydactyly type C  ISORGD:134526612738200DNA:missense mutations:cds:p.T201P,p.L263P (human)RGD 
Gdf5Ratbrachydactyly type C  ISORGD:134526612437083DNA:missense mutation:cds:c.527T>C(p.L176P)(human)RGD 
Gdf5Ratbrachydactyly type C  ISORGD:134526612738202DNA:mutation:cds:p.M173V(517A>G)(human)RGD 
Gdf5Ratdevelopmental dysplasia of the hip 1 susceptibilityISORGD:134526612738201DNA:SNP::rs143383(human)RGD 
Gdf5RatFemoral Fractures treatmentISORGD:134526612738204 RGD 
Gdf5Ratfibular hypoplasia and complex brachydactyly  ISORGD:134526612437084DNA:missense mutation:cds:T1322C (p.L441P)(human)RGD 
Gdf5Ratmultiple synostoses syndrome 1  ISORGD:134526612738199DNA:missense mutation:cds:p.R438L(1313G>T)(human)RGD 
Gdf5RatParkinson's disease  IEP 12738228mRNA:increased expression:striatum:RGD 
Gdf5RatParkinson's disease treatmentISORGD:134526612738227 RGD 
Gdf5Ratsyndactyly  ISORGD:162240012738203DNA:insertion:cds:RGD 
Gdf5RatTendon Injuries treatmentISORGD:134526612738226 RGD 
Gdf5RatTendon Injuries treatmentISORGD:162240012738229 RGD 
1 to 16 of 16 rows
1 to 16 of 16 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5Ratacromesomelic dysplasia  ISORGD:13452668554872ClinVar Annotator: match by term: Acromesomelic dwarfism | ClinVar Annotator: match by term: Acromesomelic dysplasiaClinVarPMID:25741868|PMID:28492532
Gdf5Ratacromesomelic dysplasia, Grebe type  ISORGD:13452668554872ClinVar Annotator: match by term: ACROMESOMELIC DYSPLASIA 2A | ClinVar Annotator: match by term: Grebe more ...ClinVarPMID:12124730|PMID:12900894|PMID:17384641|PMID:18203755|PMID:25741868|PMID:28492532|PMID:9288098
Gdf5Ratacromesomelic dysplasia, Hunter-Thompson type  ISORGD:13452668554872ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type | ClinVar Annotator: match by more ...ClinVarPMID:17384641|PMID:18203755|PMID:25741868|PMID:2703235|PMID:28492532|PMID:8589725
Gdf5Ratbrachydactyly  ISORGD:13452668554872ClinVar Annotator: match by term: BrachydactylyClinVarPMID:17384641|PMID:25741868|PMID:28492532
Gdf5Ratbrachydactyly type A1C  ISORGD:13452668554872ClinVar Annotator: match by term: Brachydactyly type A1C | ClinVar Annotator: match by term: Brachydactyly, more ...ClinVarPMID:20683927|PMID:25741868|PMID:9288098
Gdf5Ratbrachydactyly type A2  ISORGD:13452668554872ClinVar Annotator: match by term: Mohr-Wriedt type brachydactyly | ClinVar Annotator: match by term: Type more ...ClinVarPMID:12121354|PMID:12357473|PMID:16014698|PMID:16127465|PMID:18203755|PMID:21976273|PMID:25741868|PMID:27577507|PMID:28492532|PMID:8589725|PMID:9288091
Gdf5Ratbrachydactyly type C  ISORGD:13452668554872ClinVar Annotator: match by term: Brachydactyly Haws type | ClinVar Annotator: match by term: Brachydactyly more ...ClinVarPMID:12121354|PMID:12357473|PMID:12567410|PMID:12900894|PMID:13953230|PMID:14735582|PMID:16957682|PMID:18203755|PMID:18283415|PMID:25741868|PMID:27577507|PMID:28492532|PMID:33333243|PMID:8589725|PMID:9024575|PMID:9288091
Gdf5Ratfibular hypoplasia and complex brachydactyly  ISORGD:13452668554872ClinVar Annotator: match by term: Acromesomelic dysplasia 2B | ClinVar Annotator: match by term: Du more ...ClinVarPMID:12121354|PMID:16014698|PMID:16127465|PMID:17384641|PMID:18629880|PMID:21976273|PMID:25741868|PMID:28492532
Gdf5Ratgenetic disease  ISORGD:13452668554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:14735582|PMID:28492532
Gdf5Ratglutathione synthetase deficiency  ISORGD:13452668554872ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIAClinVarPMID:12638941|PMID:15717202|PMID:28492532
Gdf5Ratglutatione synthetase deficiency with 5-oxoprolinuria  ISORGD:13452668554872ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCYClinVarPMID:12638941|PMID:15717202|PMID:28492532
Gdf5Ratmultiple synostoses syndrome 1  ISORGD:13452668554872ClinVar Annotator: match by term: Symphalangism-brachydactyly syndromeClinVar 
Gdf5Ratmultiple synostoses syndrome 2  ISORGD:13452668554872ClinVar Annotator: match by term: Multiple synostoses syndrome 2ClinVarPMID:12357473|PMID:16005596|PMID:16127465|PMID:16532400|PMID:17384641|PMID:18203755|PMID:23483675|PMID:25741868|PMID:28032038|PMID:28492532|PMID:9024575|PMID:9288091
Gdf5Ratosteoarthritis  ISORGD:13452668554872ClinVar Annotator: match by term: Osteoarthritis susceptibility 5ClinVarPMID:17384641|PMID:25741868|PMID:28492532
Gdf5Ratosteochondrodysplasia  ISORGD:13452668554872ClinVar Annotator: match by term: ChondrodysplasiaClinVar 
Gdf5Ratproximal symphalangism 2  ISORGD:13452668554872ClinVar Annotator: match by term: Symphalangism, proximal, 1BClinVarPMID:12121354|PMID:12357473|PMID:16005596|PMID:16014698|PMID:16127465|PMID:16532400|PMID:16892395|PMID:18283415|PMID:21976273|PMID:23483675|PMID:25741868|PMID:28032038|PMID:28492532|PMID:9288091
1 to 16 of 16 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5Ratacromesomelic dysplasia, Grebe type  ISORGD:134526611554173CTD Direct Evidence: marker/mechanismCTD 
Gdf5Ratbrachydactyly type A2  ISORGD:134526611554173CTD Direct Evidence: marker/mechanismCTD 
Gdf5Ratbrachydactyly type C  ISORGD:134526611554173CTD Direct Evidence: marker/mechanismCTD 
Gdf5Ratfibular hypoplasia and complex brachydactyly  ISORGD:134526611554173CTD Direct Evidence: marker/mechanismCTD 
Gdf5RatKnee Osteoarthritis  ISORGD:134526611554173CTD Direct Evidence: marker/mechanismCTDPMID:30374069
Gdf5Ratmultiple synostoses syndrome 2  ISORGD:134526611554173CTD Direct Evidence: marker/mechanismCTD 
Gdf5Ratosteoarthritis  ISORGD:134526611554173CTD Direct Evidence: marker/mechanismCTDPMID:18830904|PMID:30664745
Gdf5Ratrheumatoid arthritis  ISORGD:134526611554173CTD Direct Evidence: marker/mechanismCTDPMID:18830904
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5Ratacromesomelic dysplasia, Grebe type  ISSRGD:162240013592920OMIM:200700MouseDO 
Gdf5Ratacromesomelic dysplasia, Hunter-Thompson type  ISSRGD:162240013592920OMIM:201250MouseDO 
Gdf5Ratbrachydactyly type A1C  ISSRGD:162240013592920OMIM:615072MouseDO 
Gdf5Ratbrachydactyly type A2  ISSRGD:162240013592920OMIM:112600MouseDO 
Gdf5Ratbrachydactyly type C  ISSRGD:162240013592920OMIM:113100MouseDO 
Gdf5Ratfibular hypoplasia and complex brachydactyly  ISSRGD:162240013592920OMIM:228900MouseDO 
Gdf5Ratmultiple synostoses syndrome  ISSRGD:162240013592920OMIM:186500 | OMIM:610017 | OMIM:612961MouseDO 
Gdf5Ratosteoarthritis  ISSRGD:162240013592920 MouseDO 
1 to 9 of 9 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5Ratacromesomelic dysplasia, Grebe type  ISORGD:13452667240710 OMIM 
Gdf5Ratacromesomelic dysplasia, Hunter-Thompson type  ISORGD:13452667240710 OMIM 
Gdf5Ratbrachydactyly type A1C  ISORGD:13452667240710 OMIM 
Gdf5Ratbrachydactyly type A2  ISORGD:13452667240710 OMIM 
Gdf5Ratbrachydactyly type C  ISORGD:13452667240710 OMIM 
Gdf5Ratfibular hypoplasia and complex brachydactyly  ISORGD:13452667240710 OMIM 
Gdf5Ratmultiple synostoses syndrome 2  ISORGD:13452667240710 OMIM 
Gdf5Ratosteoarthritis  ISORGD:13452667240710 OMIM 
Gdf5Ratproximal symphalangism 2  ISORGD:13452667240710 OMIM 
1 to 9 of 9 rows

1 to 20 of 36 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5Rat1,2-dimethylhydrazine decreases expressionISORGD:162240064804641,2-Dimethylhydrazine results in decreased expression of GDF5 mRNACTDPMID:22206623
Gdf5Rat2,4-dibromophenyl 2,4,5-tribromophenyl ether increases expressionISORGD:134526664804642,2',4,4',5-brominated diphenyl ether results in increased expression of GDF5 mRNACTDPMID:26705709
Gdf5Rat4,4'-diaminodiphenylmethane increases expressionISORGD:162240064804644,4'-diaminodiphenylmethane results in increased expression of GDF5 mRNACTDPMID:18648102
Gdf5Rat5-aza-2'-deoxycytidine increases expressionISORGD:16224006480464Decitabine results in increased expression of GDF5 mRNACTDPMID:27915011
Gdf5Rat6-propyl-2-thiouracil increases expressionEXP 6480464Propylthiouracil results in increased expression of GDF5 mRNACTDPMID:24780913|PMID:30047161
Gdf5RatAflatoxin B2 alpha increases methylationISORGD:13452666480464aflatoxin B2 results in increased methylation of GDF5 intronCTDPMID:30157460
Gdf5Ratamiodarone increases expressionISORGD:13452666480464Amiodarone results in increased expression of GDF5 mRNACTDPMID:19774075
Gdf5Ratantirheumatic drug decreases expressionISORGD:13452666480464Antirheumatic Agents results in decreased expression of GDF5 mRNACTDPMID:18830904
Gdf5Ratarsenite(3-) increases methylationISORGD:13452666480464arsenite results in increased methylation of GDF5 promoterCTDPMID:23974009
Gdf5Ratbenzo[a]pyrene affects methylationISORGD:13452666480464Benzo(a)pyrene affects the methylation of GDF5 promoterCTDPMID:27901495
Gdf5Ratberberine decreases expressionISORGD:13452666480464Berberine results in decreased expression of GDF5 mRNACTDPMID:26478571
Gdf5Ratbis(2-ethylhexyl) phthalate increases expressionISORGD:16224006480464Diethylhexyl Phthalate results in increased expression of GDF5 mRNACTDPMID:34319233
Gdf5Ratbisphenol A affects expressionEXP 6480464bisphenol A affects the expression of GDF5 mRNACTDPMID:25181051
Gdf5Ratbisphenol A increases methylationISORGD:16224006480464bisphenol A results in increased methylation of GDF5 promoterCTDPMID:27312807
Gdf5RatC60 fullerene decreases expressionEXP 6480464fullerene C60 results in decreased expression of GDF5 mRNACTDPMID:19167457
Gdf5RatCGP 52608 multiple interactionsISORGD:13452666480464CGP 52608 promotes the reaction [RORA protein binds to GDF5 gene]CTDPMID:28238834
Gdf5Ratdeoxynivalenol increases expressionISORGD:13452666480464deoxynivalenol results in increased expression of GDF5 mRNACTDPMID:31863870
Gdf5Ratdiazinon affects expressionEXP 6480464Diazinon affects the expression of GDF5 mRNACTDPMID:22546817
Gdf5Ratethylparaben decreases expressionISORGD:13452666480464ethyl-p-hydroxybenzoate results in decreased expression of GDF5 mRNACTDPMID:37690743
Gdf5Ratlead diacetate increases expressionISORGD:16224006480464lead acetate results in increased expression of GDF5 mRNACTDPMID:22609695

1 to 20 of 36 rows

Biological Process
1 to 20 of 36 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5RatBMP signaling pathway involved_inISORGD:13452661624291 PMID:21976273, PMID:25092592RGDPMID:21976273|PMID:25092592
Gdf5RatBMP signaling pathway involved_inIEAUniProtKB:P43026|ensembl:ENSP000003634891600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratcell surface receptor protein serine/threonine kinase signaling pathway acts_upstream_of_or_withinISORGD:16224001624291MGI:107191|MGI:1346865|MGI:1927616 PMID:18363966RGDPMID:18363966
Gdf5Ratcell surface receptor protein serine/threonine kinase signaling pathway acts_upstream_of_or_withinIEAUniProtKB:P43027|ensembl:ENSMUSP000000480791600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratchondroblast differentiation involved_inISORGD:13452661624291 PMID:25092592RGDPMID:25092592
Gdf5Ratchondroblast differentiation involved_inIEAUniProtKB:P43026|ensembl:ENSP000003634891600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratchondrocyte differentiation acts_upstream_ofISORGD:16224001624291 PMID:9885252RGDPMID:9885252
Gdf5Ratchondrocyte differentiation acts_upstream_ofIEAUniProtKB:P43027|ensembl:ENSMUSP000000480791600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratembryonic limb morphogenesis acts_upstream_of_or_withinISORGD:16224001624291MGI:1855974 PMID:15542031RGDPMID:15542031
Gdf5Ratembryonic limb morphogenesis acts_upstream_of_or_withinIEAUniProtKB:P43027|ensembl:ENSMUSP000000480791600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratforelimb morphogenesis acts_upstream_of_or_withinISORGD:16224001624291MGI:1855974 PMID:8145850RGDPMID:8145850
Gdf5Ratforelimb morphogenesis acts_upstream_of_or_withinIEAUniProtKB:P43027|ensembl:ENSMUSP000000480791600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Rathindlimb morphogenesis acts_upstream_of_or_withinISORGD:16224001624291MGI:1855974|MGI:1856810 PMID:17085896, PMID:8145850RGDPMID:17085896|PMID:8145850
Gdf5Rathindlimb morphogenesis acts_upstream_of_or_withinIEAUniProtKB:P43027|ensembl:ENSMUSP000000480791600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratmesenchymal cell apoptotic process acts_upstream_ofIEAUniProtKB:P43027|ensembl:ENSMUSP000000480791600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratmesenchymal cell apoptotic process acts_upstream_ofISORGD:16224001624291MGI:1855974 PMID:15542031RGDPMID:15542031
Gdf5Ratnegative regulation of chondrocyte differentiation involved_inISORGD:13452661624291 PMID:21976273RGDPMID:21976273
Gdf5Ratnegative regulation of chondrocyte differentiation involved_inIEAUniProtKB:P43026|ensembl:ENSP000003634891600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratnegative regulation of epithelial cell proliferation involved_inISORGD:13452661624291 PMID:9950587RGDPMID:9950587
Gdf5Ratnegative regulation of epithelial cell proliferation involved_inIEAUniProtKB:P43026|ensembl:ENSP000003634891600115GO_REF:0000107EnsemblGO_REF:0000107
1 to 20 of 36 rows

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5Ratextracellular region located_inIEAInterPro:IPR0156151600115GO_REF:0000002InterProGO_REF:0000002
Gdf5Ratextracellular region located_inIEAUniProtKB-KW:KW-09641600115GO_REF:0000043UniProtGO_REF:0000043
Gdf5Ratextracellular region located_inIEAUniProtKB-SubCell:SL-02431600115GO_REF:0000044UniProtGO_REF:0000044
Gdf5Ratextracellular space  NAS 1299262 RGD 
Gdf5Ratextracellular space is_active_inIBAFB:FBgn0000490|FB:FBgn0005590|FB:FBgn0024234|MGI:103302|MGI:1338027|MGI:88177|MGI:88180|MGI:95691|MGI:98725|MGI:98726|PANTHER:PTN000218063|RGD:1305979|RGD:2211|RGD:2212|RGD:2213|RGD:2214|RGD:2912|RGD:2913|RGD:3115|RGD:3851|RGD:62074|RGD:620743|RGD:621512|RGD:69051|RGD:70491|UniProtKB:O14793|UniProtKB:O42220|UniProtKB:O95393|UniProtKB:P01137|UniProtKB:P05111|UniProtKB:P08476|UniProtKB:P12643|UniProtKB:P12644|UniProtKB:P18075|UniProtKB:P22004|UniProtKB:P30371|UniProtKB:P61812|UniProtKB:Q96S42|UniProtKB:Q99988|UniProtKB:Q9UK05|WB:WBGene000009031600115GO_REF:0000033GO_CentralGO_REF:0000033

Molecular Function
1 to 11 of 11 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5RatBMP binding enablesISORGD:13452661624291UniProtKB:O00238|UniProtKB:P36894|UniProtKB:Q13873 PMID:21976273RGDPMID:21976273
Gdf5RatBMP binding enablesIEAUniProtKB:P43026|ensembl:ENSP000003634891600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratcytokine activity enablesIBAMGI:1346047|MGI:88177|PANTHER:PTN000218063|UniProtKB:P01137|UniProtKB:P08476|UniProtKB:P12643|UniProtKB:P12644|UniProtKB:Q99988|UniProtKB:Q9UK051600115GO_REF:0000033GO_CentralGO_REF:0000033
Gdf5Ratgrowth factor activity enablesIEAUniProtKB-KW:KW-03391600115GO_REF:0000043UniProtGO_REF:0000043
Gdf5Ratgrowth factor activity enablesIEAInterPro:IPR001839|InterPro:IPR0179481600115GO_REF:0000002InterProGO_REF:0000002
Gdf5Ratidentical protein binding enablesISORGD:13452661624291UniProtKB:P43026 PMID:25174448RGDPMID:25174448
Gdf5Ratidentical protein binding enablesIEAUniProtKB:P43026|ensembl:ENSP000003634891600115GO_REF:0000107EnsemblGO_REF:0000107
Gdf5Ratprotein binding enablesISORGD:16224001624291PR:Q8VEA6|PR:Q9R118|UniProtKB:Q9D236 PMID:14660436, PMID:14973287, PMID:15206957RGDPMID:14660436|PMID:14973287|PMID:15206957
Gdf5Ratprotein binding enablesISORGD:1345266,UniProtKB:P43026-PRO_00000339131624291UniProtKB:P98066 PMID:18586671RGDPMID:18586671
Gdf5Ratprotein binding enablesISORGD:13452661624291UniProtKB:O00238|UniProtKB:P35555|UniProtKB:P35556|UniProtKB:P36894|UniProtKB:Q13253|UniProtKB:Q13873 PMID:16127465, PMID:18339631, PMID:19229295, PMID:21543859, PMID:21976273, PMID:24098149RGDPMID:16127465|PMID:18339631|PMID:19229295|PMID:21543859|PMID:21976273|PMID:24098149
Gdf5Ratsignaling receptor binding  IMP 1598708 RGD 
1 to 11 of 11 rows

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Gdf5Rattransforming growth factor-beta superfamily mediated signaling pathway  IEA 6907045 KEGGrno:04350

1 to 20 of 27 rows
#
Reference Title
Reference Citation
1. A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family. Basit S, etal., BMC Med Genet. 2008 Nov 27;9:102. doi: 10.1186/1471-2350-9-102.
2. Mutations in GDF5 presenting as semidominant brachydactyly A1. Byrnes AM, etal., Hum Mutat. 2010 Oct;31(10):1155-62. doi: 10.1002/humu.21338.
3. Transplantation of novel human GDF5-expressing CHO cells is neuroprotective in models of Parkinson's disease. Costello DJ, etal., J Cell Mol Med. 2012 Oct;16(10):2451-60. doi: 10.1111/j.1582-4934.2012.01562.x.
4. Association of a single nucleotide polymorphism in growth differentiate factor 5 with congenital dysplasia of the hip: a case-control study. Dai J, etal., Arthritis Res Ther. 2008;10(5):R126. doi: 10.1186/ar2540. Epub 2008 Oct 24.
5. GDF5 is a second locus for multiple-synostosis syndrome. Dawson K, etal., Am J Hum Genet. 2006 Apr;78(4):708-12. Epub 2006 Feb 24.
6. Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. Degenkolbe E, etal., Bone. 2015 Apr;73:111-9. doi: 10.1016/j.bone.2014.12.017. Epub 2014 Dec 24.
7. The effect of growth differentiation factor-5-coated sutures on tendon repair in a rat model. Dines JS, etal., J Shoulder Elbow Surg. 2007 Sep-Oct;16(5 Suppl):S215-21. Epub 2007 May 15.
8. Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). Faiyaz-Ul-Haque M, etal., Clin Genet. 2002 Jun;61(6):454-8.
9. Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5. Faiyaz-Ul-Haque M, etal., J Bone Miner Metab. 2008;26(6):648-52. doi: 10.1007/s00774-008-0853-5. Epub 2008 Nov 1.
10. Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. Farooq M, etal., Hum Genet. 2013 Nov;132(11):1253-64. doi: 10.1007/s00439-013-1330-3. Epub 2013 Jun 29.
11. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
12. 6-Hydroxydopamine induces distinct alterations in GDF5 and GDNF mRNA expression in the rat nigrostriatal system in vivo. Gavin AM, etal., Neurosci Lett. 2014 Feb 21;561:176-81. doi: 10.1016/j.neulet.2013.12.046. Epub 2013 Dec 25.
13. Growth of severely hypoplastic phalanges and metacarpals in symbrachydactyly: an experimental study in mice. Kanauchi Y, etal., J Hand Surg Am. 2008 Nov;33(9):1589-96. doi: 10.1016/j.jhsa.2008.05.015.
14. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
15. Effects of growth/differentiation factor 5 on the survival and morphology of embryonic rat midbrain dopaminergic neurones in vitro. O'Keeffe GW, etal., J Neurocytol. 2004 Sep;33(5):479-88.
16. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
17. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
18. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
19. GOA pipeline RGD automated data pipeline
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
1 to 20 of 27 rows
PMID:8145850   PMID:9885252   PMID:9950587   PMID:15246706   PMID:15542031   PMID:17085896   PMID:17118748   PMID:18363966   PMID:18569021   PMID:21976273   PMID:24098149   PMID:24682653  
PMID:25174448   PMID:26010756   PMID:37310547  



Gdf5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83164,914,401 - 164,918,593 (-)NCBIGRCr8
mRatBN7.23144,454,316 - 144,458,508 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3144,454,338 - 144,458,612 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3148,319,762 - 148,323,943 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03156,937,031 - 156,941,212 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03154,676,561 - 154,680,742 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03151,482,672 - 151,487,129 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3151,483,249 - 151,486,693 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03157,849,749 - 157,853,231 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera3143,176,803 - 143,181,254 (-)NCBICelera
Cytogenetic Map3q42NCBI
GDF5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382035,433,347 - 35,454,749 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2035,433,347 - 35,454,746 (-)EnsemblGRCh38hg38GRCh38
GRCh372034,021,145 - 34,042,571 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362033,484,563 - 33,489,441 (-)NCBINCBI36Build 36hg18NCBI36
Build 342033,484,562 - 33,489,441NCBI
Celera2030,769,772 - 30,774,651 (-)NCBICelera
Cytogenetic Map20q11.22NCBI
HuRef2030,798,624 - 30,803,509 (-)NCBIHuRef
CHM1_12033,922,579 - 33,927,457 (-)NCBICHM1_1
T2T-CHM13v2.02037,154,208 - 37,175,640 (-)NCBIT2T-CHM13v2.0
Gdf5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392155,782,943 - 155,787,204 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2155,782,943 - 155,787,287 (-)EnsemblGRCm39 Ensembl
GRCm382155,941,023 - 155,945,367 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2155,941,023 - 155,945,367 (-)EnsemblGRCm38mm10GRCm38
MGSCv372155,766,759 - 155,771,100 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362155,632,468 - 155,636,808 (-)NCBIMGSCv36mm8
Celera2161,874,286 - 161,878,600 (-)NCBICelera
Cytogenetic Map2H1NCBI
cM Map277.26NCBI
Gdf5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542225,992,081 - 25,997,122 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542225,992,081 - 25,997,122 (+)NCBIChiLan1.0ChiLan1.0
GDF5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22141,166,285 - 41,174,274 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12041,159,388 - 41,167,377 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02031,761,199 - 31,766,229 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12032,882,094 - 32,903,044 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2032,882,094 - 32,886,899 (-)Ensemblpanpan1.1panPan2
GDF5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12424,395,699 - 24,400,302 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2424,395,263 - 24,399,928 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2424,041,515 - 24,046,000 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02425,088,106 - 25,092,591 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2425,088,006 - 25,092,220 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12424,374,851 - 24,379,335 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02424,469,869 - 24,474,354 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02424,908,900 - 24,913,385 (-)NCBIUU_Cfam_GSD_1.0
Gdf5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640173,399,611 - 173,406,429 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365615,343,038 - 5,347,721 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365615,343,038 - 5,347,721 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GDF5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1738,792,187 - 38,797,005 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11738,792,854 - 38,796,806 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21743,913,724 - 43,917,676 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GDF5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1256,340,371 - 56,346,378 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl256,340,933 - 56,345,053 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660872,491,489 - 2,496,692 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gdf5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248423,959,617 - 3,963,020 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248423,958,814 - 3,963,713 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in Gdf5
14 total Variants

Predicted Target Of
Summary Value
Count of predictions:160
Count of miRNA genes:126
Interacting mature miRNAs:140
Transcripts:ENSRNOT00000071099, ENSRNOT00000073736
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 33 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
2312673Scl63Serum cholesterol level QTL 630.001blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)398535255168026850Rat
1598877Bp285Blood pressure QTL 2851.50.03arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)3120538241165538241Rat
1578653Vnigr3Vascular neointimal growth QTL 33.1artery morphology trait (VT:0002191)artery neointimal hyperplastic lesion area (CMO:0001414)3130656562169034231Rat
2302373Gluco39Glucose level QTL 395.01blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)398535386161695835Rat
1298068Bp167Blood pressure QTL 1670.004arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)3141074471169034231Rat
70216Cm14Cardiac mass QTL 142.1heart mass (VT:0007028)heart wet weight (CMO:0000069)331172320163586636Rat
2292591Esta4Estrogen-induced thymic atrophy QTL 4thymus mass (VT:0004954)thymus wet weight (CMO:0000855)347233211147415807Rat
2298477Eau4Experimental allergic uveoretinitis QTL 40.0011uvea integrity trait (VT:0010551)experimental autoimmune uveitis score (CMO:0001504)3137398739169034231Rat
61335Bp20Blood pressure QTL 203arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)3141339236155617360Rat
1581568Rf53Renal function QTL 53urine total protein amount (VT:0000032)urine protein excretion rate to body weight ratio (CMO:0001099)356395968161299569Rat

1 to 10 of 33 rows
U08337  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23144,454,464 - 144,454,586 (+)MAPPERmRatBN7.2
Rnor_6.03151,482,879 - 151,483,000NCBIRnor6.0
Rnor_5.03157,849,400 - 157,849,521UniSTSRnor5.0
Celera3143,177,010 - 143,177,131UniSTS
UniSTS:143190  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23144,454,319 - 144,454,861 (+)MAPPERmRatBN7.2
Rnor_6.03151,482,734 - 151,483,275NCBIRnor6.0
Rnor_5.03157,849,255 - 157,849,796UniSTSRnor5.0
Celera3143,176,865 - 143,177,406UniSTS
UniSTS:496658  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23144,458,285 - 144,458,489 (+)MAPPERmRatBN7.2
Rnor_6.03151,486,709 - 151,486,912NCBIRnor6.0
Rnor_5.03157,852,921 - 157,853,124UniSTSRnor5.0
Celera3143,180,834 - 143,181,037UniSTS
REN57716  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23144,455,253 - 144,455,478 (+)MAPPERmRatBN7.2
Rnor_6.03151,483,668 - 151,483,892NCBIRnor6.0
Rnor_5.03157,850,189 - 157,850,413UniSTSRnor5.0
Celera3143,177,799 - 143,178,023UniSTS
REN57733  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.23144,458,454 - 144,458,696 (+)MAPPERmRatBN7.2
Rnor_6.03151,486,878 - 151,487,119NCBIRnor6.0
Rnor_5.03157,853,090 - 157,853,331UniSTSRnor5.0
Celera3143,181,003 - 143,181,244UniSTS




alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 8 24 106 36 34 7 23 7 4 132 67 88 43 58 27



Ensembl Acc Id: ENSRNOT00000071099   ⟹   ENSRNOP00000063921
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.0 Ensembl3151,483,844 - 151,486,693 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000073736   ⟹   ENSRNOP00000066703
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl3144,454,338 - 144,458,612 (-)Ensembl
Rnor_6.0 Ensembl3151,483,249 - 151,486,693 (-)Ensembl
RefSeq Acc Id: NM_001398661   ⟹   NP_001385590
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr83164,914,401 - 164,918,593 (-)NCBI
mRatBN7.23144,454,316 - 144,458,508 (-)NCBI
Protein RefSeqs NP_001385590 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAC02713 (Get FASTA)   NCBI Sequence Viewer  
  BAD83809 (Get FASTA)   NCBI Sequence Viewer  
  EDL85884 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000066703
  ENSRNOP00000066703.1
Ensembl Acc Id: ENSRNOP00000063921   ⟸   ENSRNOT00000071099
Ensembl Acc Id: ENSRNOP00000066703   ⟸   ENSRNOT00000073736
RefSeq Acc Id: NP_001385590   ⟸   NM_001398661
- Peptide Label: preproprotein
- UniProtKB: M0RAY4 (UniProtKB/TrEMBL),   A6KI71 (UniProtKB/TrEMBL)
TGF-beta family profile

Name Modeler Protein Id AA Range Protein Structure
AF-M0RAY4-F1-model_v2 AlphaFold M0RAY4 1-495 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen



1 to 24 of 24 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-47113 BioCyc
Ensembl Genes ENSRNOG00000050123 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000073736 ENTREZGENE
  ENSRNOT00000073736.4 UniProtKB/TrEMBL
Gene3D-CATH 2.10.90.10 UniProtKB/TrEMBL
  2.60.120.970 UniProtKB/TrEMBL
InterPro Cystine-knot_cytokine UniProtKB/TrEMBL
  TGF-b_C UniProtKB/TrEMBL
  TGF-b_N UniProtKB/TrEMBL
  TGF-beta-rel UniProtKB/TrEMBL
  TGFb_CS UniProtKB/TrEMBL
NCBI Gene 252835 ENTREZGENE
PANTHER GROWTH/DIFFERENTIATION FACTOR 5 UniProtKB/TrEMBL
  PTHR11848 UniProtKB/TrEMBL
Pfam TGF_beta UniProtKB/TrEMBL
  TGFb_propeptide UniProtKB/TrEMBL
PhenoGen Gdf5 PhenoGen
PROSITE TGF_BETA_1 UniProtKB/TrEMBL
  TGF_BETA_2 UniProtKB/TrEMBL
RatGTEx ENSRNOG00000050123 RatGTEx
SMART TGFB UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/TrEMBL
UniProt A6KI71 ENTREZGENE, UniProtKB/TrEMBL
  M0RAY4 ENTREZGENE, UniProtKB/TrEMBL
1 to 24 of 24 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2005-01-20 Gdf5  growth differentiation factor 5      Symbol and Name status set to approved 1299863 APPROVED
2002-08-07 Gdf5  growth differentiation factor 5      Symbol and Name status set to provisional 70820 PROVISIONAL