Gene Gene information from NCBI Gene database.
Entrez ID 10220
Gene name Growth differentiation factor 11
Gene symbol GDF11
Synonyms (NCBI Gene)
BMP-11BMP11VHO
Chromosome 12
Chromosome location 12q13.2
Summary This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate
miRNA miRNA information provided by mirtarbase database.
440
miRTarBase ID miRNA Experiments Reference
MIRT029928 hsa-miR-26b-5p Microarray 19088304
MIRT052163 hsa-let-7b-5p CLASH 23622248
MIRT050946 hsa-miR-17-5p CLASH 23622248
MIRT040960 hsa-miR-18a-3p CLASH 23622248
MIRT040475 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001501 Process Skeletal system development TAS 10391213
GO:0001656 Process Metanephros development IEA
GO:0001657 Process Ureteric bud development IEA
GO:0005125 Function Cytokine activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603936 4216 ENSG00000135414
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95390
Protein name Growth/differentiation factor 11 (GDF-11) (Bone morphogenetic protein 11) (BMP-11)
Protein function Secreted signal that acts globally to regulate anterior/posterior axial patterning during development. May play critical roles in patterning both mesodermal and neural tissues (By similarity). It is required for proper vertebral patterning and o
PDB 5E4G , 5JHW , 5UHM , 6MAC , 7MRZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 60 298 TGF-beta propeptide Family
PF00019 TGF_beta 312 406 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: In the embryo, strong expression is seen in the palatal epithelia, including the medial edge epithelial and midline epithelial seam of the palatal shelves. Less pronounced expression is also seen throughout the palatal shelf and tongue
Sequence
Sequence length 407
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cytokine-cytokine receptor interaction  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Orofacial cleft Likely pathogenic; Pathogenic rs1878258280 RCV001261824
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vertebral hypersegmentation and orofacial anomalies Likely pathogenic; Pathogenic rs1878258280 RCV001270146
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GDF11-associated multiple congenital anomalies and ID Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GDF11-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28170441
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 30462553
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30727851, 31530563
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 30727851 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 30727851 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Dyserythropoietic Congenital Congenital dyserythropoietic anemia Pubtator 32759740 Stimulate
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 30281844
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 30727851
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 27502608, 30188752
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30407878
★☆☆☆☆
Found in Text Mining only