MSTN (myostatin)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2660
Gene name Myostatin
Gene symbol MSTN
Synonyms (NCBI Gene)
GDF8MSLHP
Chromosome 2
Chromosome location 2q32.2
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.
6
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601788 4223 ENSG00000138379
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Myostatin-related muscle hypertrophy Pathogenic rs397515373 RCV000008144
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs1805086 RCV005890387
Familial cancer of breast Benign; Likely benign rs142195885 RCV005896024
Malignant tumor of esophagus Benign rs1805086 RCV005890386
Melanoma Benign rs1805086 RCV005890388
Show/Hide Text Mining Associations (85)
Associations from Text MiningDisease 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