GeneBe

TNNC2

troponin C2, fast skeletal type, the group of Troponin complex subunits|EF-hand domain containing|Cilia and flagella associated

Basic information

Region (hg38): 20:45823214-45833745

Links

ENSG00000101470 ∙ NCBI:7125 ∙ OMIM:191039 ∙ HGNC:11944 ∙ Uniprot:P02585 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • congenital myopathy 15 (Limited), mode of inheritance: AD
  • congenital myopathy 15 (Limited), mode of inheritance: Unknown
  • hypertrophic cardiomyopathy (No Known Disease Relationship), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Congenital myopathy 15ADMusculoskeletalEarly recognition of the disease may enable neonatal and early-childhood ventilatory and related supportMusculoskeletal33755597

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TNNC2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TNNC2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
3
clinvar
 3
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 3 0 0

Variants in TNNC2

This is a list of pathogenic ClinVar variants found in the TNNC2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
20-45823356-C-T not specified Uncertain significance (May 14, 2024)3327645
20-45824048-T-G not specified Uncertain significance (Aug 08, 2023)2616840
20-45824059-G-A not specified Uncertain significance (Jun 23, 2023)2605882
20-45824125-T-C not specified Uncertain significance (Jun 16, 2024)3327646
20-45824369-C-G Congenital myopathy 15 Pathogenic (Jul 16, 2024)1806475
20-45824546-T-A not specified Uncertain significance (Aug 01, 2022)2304171
20-45824594-C-A Congenital myopathy 15 Pathogenic (Jul 16, 2024)1806474

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TNNC2protein_codingprotein_codingENST00000372555 610532
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.01620.8941257370111257480.0000437
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.20711060.6710.000005871094
Missense in Polyphen2442.3380.56687465
Synonymous1.283040.40.7430.00000273255
Loss of Function1.4248.470.4723.59e-7103

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00008190.0000791
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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 to Tn-C abolishes the inhibitory action of Tn on actin filaments.;
Pathway
Calcium signaling pathway - Homo sapiens (human);Disopyramide Action Pathway;Procainamide (Antiarrhythmic) Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Fosphenytoin (Antiarrhythmic) Action Pathway;Bopindolol Action Pathway;Timolol Action Pathway;Carteolol Action Pathway;Bevantolol Action Pathway;Practolol Action Pathway;Dobutamine Action Pathway;Isoprenaline Action Pathway;Arbutamine Action Pathway;Amiodarone Action Pathway;Levobunolol Action Pathway;Metipranolol Action Pathway;Mexiletine Action Pathway;Lidocaine (Antiarrhythmic) Action Pathway;Quinidine Action Pathway;Sotalol Action Pathway;Epinephrine Action Pathway;Betaxolol Action Pathway;Atenolol Action Pathway;Alprenolol Action Pathway;Acebutolol Action Pathway;Muscle/Heart Contraction;Diltiazem Action Pathway;Propranolol Action Pathway;Pindolol Action Pathway;Penbutolol Action Pathway;Oxprenolol Action Pathway;Metoprolol Action Pathway;Esmolol Action Pathway;Bisoprolol Action Pathway;Bupranolol Action Pathway;Nebivolol Action Pathway;Amlodipine Action Pathway;Verapamil Action Pathway;Nitrendipine Action Pathway;Nisoldipine Action Pathway;Nimodipine Action Pathway;Ibutilide Action Pathway;Tocainide Action Pathway;Flecainide Action Pathway;Isradipine Action Pathway;Nifedipine Action Pathway;Felodipine Action Pathway;Nadolol Action Pathway;Carvedilol Action Pathway;Labetalol Action Pathway;Striated Muscle Contraction;Striated Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

pRec
0.270

Intolerance Scores

loftool
0.351
rvis_EVS
-0.01
rvis_percentile_EVS
52.85

Haploinsufficiency Scores

pHI
0.152
hipred
Y
hipred_score
0.573
ghis
0.604

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0541

Mouse Genome Informatics

Gene name
Tnnc2
Phenotype

Gene ontology

Biological process
skeletal muscle contraction;regulation of muscle contraction;muscle filament sliding
Cellular component
cytosol;troponin complex
Molecular function
actin binding;calcium ion binding;protein binding;calcium-dependent protein binding;actin filament binding