Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
151449
Gene name Gene Name - the full gene name approved by the HGNC.
Growth differentiation factor 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GDF7
Synonyms (NCBI Gene) Gene synonyms aliases
BMP12
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p24.1
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT048114 hsa-miR-197-3p CLASH 23622248
MIRT719352 hsa-miR-6814-5p HITS-CLIP 19536157
MIRT719353 hsa-miR-6515-3p HITS-CLIP 19536157
MIRT719351 hsa-miR-1236-3p HITS-CLIP 19536157
MIRT719350 hsa-miR-4736 HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IEA
GO:0005515 Function Protein binding IPI 16049014
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604651 4222 ENSG00000143869
Protein
UniProt ID Q7Z4P5
Protein name Growth/differentiation factor 7 (GDF-7)
Protein function May play an active role in the motor area of the primate neocortex.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 66 278 TGF-beta propeptide Family
PF00019 TGF_beta 348 449 Transforming growth factor beta like domain Domain
Sequence
Sequence length 450
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Axon guidance
Hippo signaling pathway
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Barrett esophagus Barrett's esophagus N/A N/A GWAS
Diabetes Type 2 diabetes or prostate cancer (pleiotropy) N/A N/A GWAS
Pelvic Organ Prolapse Pelvic organ prolapse N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 25447851, 26783083
Barrett Esophagus Associate 25447851, 26783083
Chemical and Drug Induced Liver Injury Associate 37798809
Colorectal Neoplasms Associate 29986714
Fibrocartilaginous embolism Associate 27075568
Intervertebral Disc Degeneration Associate 27075568
Liver Cirrhosis Associate 37798809
Liver Failure Stimulate 37798809
Pelvic Organ Prolapse Associate 34027909
Prolapse Associate 34027909