TNNC2 troponin C2, fast skeletal type [Homo sapiens (human)] - Gene

Summary

Official Symbol: TNNC2provided by HGNC
Official Full Name: troponin C2, fast skeletal typeprovided by HGNC
Primary source: HGNC:HGNC:11944
See related: Ensembl:ENSG00000101470 MIM:191039; AllianceGenome:HGNC:11944
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FAP85; CFAP85; CMYO15; CMYP15; MYONRI
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 the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]
Expression: Biased expression in prostate (RPKM 45.9) and esophagus (RPKM 37.4) See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (45823214..45833306, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (47559705..47569768, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (44451853..44455951, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
Title: Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.
A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway.
Title: A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway.
Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma.
Title: Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myopathy 15 MedGen: C5774273 OMIM: 620161 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of troponin C type 2 (TNNC2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	HIV-1 protease hydrolyzes troponin C at amino acid residues 101-102	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH41789 (e-PCR)
- UniSTS:34313

PMC123151P1 (e-PCR)
- UniSTS:270439

PMC140912P1 (e-PCR)
- UniSTS:270982

PMC153210P1 (e-PCR)
- UniSTS:271251

STS-M33772 (e-PCR)
- UniSTS:72887

RH71437 (e-PCR)
- UniSTS:78531

RH125423 (e-PCR)
- UniSTS:162245

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to actin binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
part_of troponin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of troponin complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: troponin C, skeletal muscle

Names: troponin C type 2 (fast)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.