TNNC2 (troponin C2, fast skeletal type)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7125
Gene name Gene Name - the full gene name approved by the HGNC.
Troponin C2, fast skeletal type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNNC2
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP85, CMYO15, CMYP15, FAP85, MYONRI
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191039 11944 ENSG00000101470
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
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
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy N/A N/A GenCC
Myopathy congenital myopathy 15 N/A N/A GenCC
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease 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