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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Myostatin-related muscle hypertrophy Pathogenic rs397515373 RCV000008144
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (9)
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
Adrenocortical carcinoma, hereditary Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (149)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 28557005
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37220890 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 16837207
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 30281844
★★★★★
★☆☆☆☆
Found in Text Mining only
Anterior Cruciate Ligament Injuries Anterior cruciate ligament injury Pubtator 30995070 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Dissection Aortic dissection Pubtator 20648054, 28855619 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis BEFREE 29797568
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23936482, 28406165, 30598193
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 28986440
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 30171335 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only