TNNC1 (troponin C1, slow skeletal and cardiac type)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 7134
Gene name Troponin C1, slow skeletal and cardiac type
Gene symbol TNNC1
Synonyms (NCBI Gene)
CMD1ZCMH13TN-CTNCTNNC
Chromosome 3
Chromosome location 3p21.1
Summary Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding si
SNPs SNP information provided by dbSNP.
11
Gene SNPs Other IDs Associated diseases
Show/Hide all (11)
SNP ID Visualize variation Clinical significance Consequence
rs104893823 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs267607123 A>T Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs267607124 G>A,C,T Pathogenic, likely-pathogenic, likely-benign, uncertain-significance Coding sequence variant, synonymous variant, missense variant
rs267607126 C>T Pathogenic Coding sequence variant, missense variant
rs397514616 C>A,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
21
Gene SNPs Other IDs Associated diseases
Show/Hide all (21)
miRTarBase ID miRNA Experiments Reference
MIRT017278 hsa-miR-335-5p Microarray 18185580
MIRT627389 hsa-miR-3606-3p HITS-CLIP 23824327
MIRT627388 hsa-miR-513a-3p HITS-CLIP 23824327
MIRT627387 hsa-miR-513c-3p HITS-CLIP 23824327
MIRT627386 hsa-miR-3137 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
Gene SNPs Other IDs Associated diseases
Show/Hide all (41)
GO ID Ontology Definition Evidence Reference
GO:0002086 Process Diaphragm contraction IEA
GO:0003009 Process Skeletal muscle contraction IBA
GO:0005509 Function Calcium ion binding IBA
GO:0005509 Function Calcium ion binding IDA 12840750, 18092822
GO:0005509 Function Calcium ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
191040 11943 ENSG00000114854
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P63316
Protein name Troponin C, slow skeletal and cardiac muscles (TN-C)
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 1AP4 , 1IH0 , 1J1D , 1J1E , 1LXF , 1MXL , 1OZS , 1SPY , 1WRK , 1WRL , 2JT0 , 2JT3 , 2JT8 , 2JTZ , 2JXL , 2KDH , 2KFX , 2KGB , 2KRD , 2L1R , 2L98 , 2MKP , 2MLE , 2MLF , 2MZP , 2N79 , 2N7L , 3RV5 , 3SD6 , 3SWB , 4GJE , 4GJF , 4GJG , 4Y99 , 5VLN , 5W88 , 5WCL , 6KN7 , 6KN8 , 6MV3 , 7JGI , 7SC2 , 7SC3 , 7SUP , 7SVC , 7SWG , 7SWI , 7SXC , 7SXD , 7UH9 , 7UHA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13833 EF-hand_8 32 → 84 EF-hand domain pair Domain
PF13499 EF-hand_7 94 → 158 EF-hand domain pair Domain
PF00036 EF-hand_1 132 → 160 EF hand Domain
Sequence
Sequence length 161
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Gene SNPs Other IDs 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 (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy Likely pathogenic; Pathogenic rs267607125 RCV001582477
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype Likely pathogenic; Pathogenic rs267607125 RCV000618084
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1Z Likely pathogenic; Pathogenic rs199523612, rs1436187022, rs2471444684, rs1706370994, rs104893823, rs267607125, rs397514616 RCV001377540
RCV002250827
RCV003315276
RCV003315472
RCV000013254
View all (2 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrophic cardiomyopathy Likely pathogenic; Pathogenic rs267607125 RCV000824773
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (14)
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
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1S — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (409)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 16965426, 17083689
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 24495796
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 16091738
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28978001
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 17352241
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 15221936
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 26398937
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 29308320
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 20159768
★★★★★
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma BEFREE 19943856
★★★★★
★☆☆☆☆
Found in Text Mining only