TNNC2 (troponin C2, fast skeletal type)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7125
Gene name Troponin C2, fast skeletal type
Gene symbol TNNC2
Synonyms (NCBI Gene)
CFAP85CMYO15CMYP15FAP85MYONRI
Chromosome 20
Chromosome location 20q13.12
Summary Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IBA
GO:0003009 Process Skeletal muscle contraction IDA 17194691
GO:0003009 Process Skeletal muscle contraction IMP 33755597
GO:0003779 Function Actin binding IDA 17194691
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191039 11944 ENSG00000101470
Protein Protein information from UniProt database.
Gene 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.
P02585
Protein name Troponin C, skeletal muscle
Protein function Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium t
PDB 7KAA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 31 → 83 EF-hand domain pair Domain
PF13499 EF-hand_7 93 → 157 EF-hand domain pair Domain
PF13833 EF-hand_8 107 → 157 EF-hand domain pair Domain
Sequence
Sequence length 160
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Calcium signaling pathway
Motor proteins
Cytoskeleton in muscle cells 		  Striated Muscle Contraction
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene 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
Congenital myopathy 15 Pathogenic rs2515818511, rs1804548 RCV002472359
RCV002472360
Show/Hide Text Mining Associations (4)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Clubfoot Associate 21834041
Myalgia Associate 33755597
Myotonia Congenita Associate 33755597
Squamous Cell Carcinoma of Head and Neck Inhibit 31324732