GDF2 (growth differentiation factor 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2658
Gene name Gene Name - the full gene name approved by the HGNC.
Growth differentiation factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GDF2
Synonyms (NCBI Gene) Gene synonyms aliases
BMP-9, BMP9, HHT5
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q11.22
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs35129734 C>A,T Pathogenic, likely-benign Missense variant, coding sequence variant, synonymous variant
rs139568056 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, terminator codon variant
rs199804679 C>G,T Pathogenic Coding sequence variant, missense variant
rs200330818 G>A,T Uncertain-significance, pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT1015721 hsa-miR-149 CLIP-seq
MIRT1015722 hsa-miR-24 CLIP-seq
MIRT1015723 hsa-miR-3064-5p CLIP-seq
MIRT1015724 hsa-miR-4284 CLIP-seq
MIRT1015725 hsa-miR-4794 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(59)
GO ID Ontology Definition Evidence Reference
GO:0001503 Process Ossification IEA
GO:0001503 Process Ossification TAS 20406889
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis IMP 23972370
GO:0001569 Process Branching involved in blood vessel morphogenesis IDA 20406889
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605120 4217 ENSG00000263761
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UK05
Protein name Growth/differentiation factor 2 (GDF-2) (Bone morphogenetic protein 9) (BMP-9)
Protein function Potent circulating inhibitor of angiogenesis. Signals through the type I activin receptor ACVRL1 but not other Alks. Signaling through SMAD1 in endothelial cells requires TGF-beta coreceptor endoglin/ENG. {ECO:0000269|PubMed:18309101, ECO:000026
PDB 1ZKZ , 4FAO , 4MPL , 4YCG , 4YCI , 5HZW , 5I05 , 9DPM , 9DPN , 9DPO , 9DPP , 9DPQ , 9DPR , 9DPS , 9DPT , 9DPU , 9DPV , 9DPW , 9DPX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 56 → 257 TGF-beta propeptide Family
PF00019 TGF_beta 326 → 428 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in blood plasma (at protein level). {ECO:0000269|PubMed:21710321}.
Sequence
Sequence length 429
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cytokine-cytokine receptor interaction   Signaling by BMP
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pulmonary arterial hypertension pulmonary arterial hypertension rs1555208696 N/A
Telangiectasia, Hereditary Hemorrhagic telangiectasia, hereditary hemorrhagic, type 5 rs199804679, rs200330818, rs1555208696, rs1358534877 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hereditary Hemorrhagic Telangiectasia hereditary hemorrhagic telangiectasia N/A N/A GenCC
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Show/Hide Text Mining Associations (49)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aggressive Periodontitis Associate 37695357
Alzheimer Disease Associate 28680159
Arteriovenous Malformations Associate 33834622, 34904380, 36259599
Arteriovenous Malformations Inhibit 36198763
Arthritis Rheumatoid Associate 34239365
Atherosclerosis Associate 34595819
Bone Diseases Associate 26460584
Breast Neoplasms Inhibit 24805814, 29941860
Carcinoma Hepatocellular Associate 23281849, 23936038, 24573607, 26343646, 33834612
Carcinoma Ovarian Epithelial Associate 19996292