MSTN (myostatin)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2660
Gene name Gene Name - the full gene name approved by the HGNC.
Myostatin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MSTN
Synonyms (NCBI Gene) Gene synonyms aliases
GDF8, MSLHP
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q32.2
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT1161953 hsa-miR-4789-5p CLIP-seq
MIRT2275525 hsa-miR-4428 CLIP-seq
MIRT2275526 hsa-miR-4699-3p CLIP-seq
MIRT2275527 hsa-miR-520d-5p CLIP-seq
MIRT2275528 hsa-miR-524-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(55)
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005102 Function Signaling receptor binding IPI 14517293
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IDA 34432647
GO:0005125 Function Cytokine activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601788 4223 ENSG00000138379
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O14793
Protein name Growth/differentiation factor 8 (GDF-8) (Myostatin)
Protein function Acts specifically as a negative regulator of skeletal muscle growth.
PDB 5F3B , 5F3H , 5NTU , 5NXS , 6UMX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 36 → 254 TGF-beta propeptide Family
PF00019 TGF_beta 280 → 374 Transforming growth factor beta like domain Domain
Sequence
Sequence length 375
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Cytokine-cytokine receptor interaction  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myostatin-Related Muscle Hypertrophy myostatin-related muscle hypertrophy rs397515373 N/A
Show/Hide Text Mining Associations (85)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Inhibit 37220890
Adenomyosis Associate 26086422
Alzheimer Disease Associate 37220890
Anterior Cruciate Ligament Injuries Associate 30995070
Aortic Dissection Associate 20648054, 28855619
Arthritis Rheumatoid Associate 30171335
Arthritis Rheumatoid Inhibit 33855071
Atrophy Stimulate 21900687
Atrophy Associate 23860742, 28202082, 28947926, 35922829
Cachexia Associate 21519918, 21840694, 32970737