TNNC2 - troponin C2, fast skeletal type Gene

Homo sapiens

Also known as FAP85; CFAP85

Gene ID: 7125 | Gene type: protein coding

About TNNC2

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:45,823,214-45,833,306 (from NCBI)

This gene has 2 transcripts (splice variants), 248 orthologues and 1 paralogue. Biased expression in prostate (RPKM 45.9) and esophagus (RPKM 37.4).

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]

TNNC2 Products(1)

mRNA	Protein	Name
NM_003279.3	NP_003270.1	troponin C, skeletal muscle

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to actin binding	IDA IDA: Inferred from direct assay	17194691	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of muscle contraction	IMP IMP: Inferred from mutant phenotype	33755597	GOA
involved in skeletal muscle contraction	IDA IDA: Inferred from direct assay	17194691	GOA
involved in skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	33755597	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of troponin complex	IDA IDA: Inferred from direct assay	17194691	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TNNC2 Protein Structure

EF-hand_8

EF-hand_7

0
100
160 a.a.

Protein Preferred Names

Protein Names

troponin C, skeletal muscle

troponin C type 2 (fast)

Related Diseases

Diseases

Alias

Arthrogryposis, Distal, Type 5

Oculomelic Amyoplasia	Distal Arthrogryposis Type 5
Distal Arthrogryposis Type Iib	DA5
Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Daiib
Distal Arthrogryposis Type 2b	Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Distal Arthrogryposis With Ophthalmoplegia	Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome
Arthrogryposis, Distal, Type Iib	Da2b
Freeman-Sheldon Syndrome Variant	Sheldon-Hall Syndrome
Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities	Arthrogryposis Ophthalmoplegia Retinopathy
Arthrogryposis, Distal, 5	Arthrogryposis, Distal, Type 2b

Nemaline Myopathy 5

Amish Nemaline Myopathy	NEM5
Anm	Nemaline Myopathy, Amish Type
Nemaline Myopathy 5, Amish Type	Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene
Nemaline Myopathy, Type 5	Nemaline Myopathy Amish Type
Tnnt1-Related Nemaline Myopathy	Myopathy, Nemaline, Type 5

Waardenburg Syndrome, Type 3

Waardenburg Syndrome Type 3	Klein-Waardenburg Syndrome
WS3	Waardenburg Syndrome With Upper Limb Anomalies
Waardenburg Syndrome Type Iii	Waardenburg Syndrome, Type Iii
White Forelock Syndrome With Multiple Congenital Malformations	Waardenburg Syndrome With Limb Anomalies
Waardenburg Syndrome 3	White Forelock With Malformations
Klein'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14849	TNNC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TNNC2	RGD	RGD:1311973
Felis catus	TNNC2	VGNC	VGNC:66426
Bos taurus	TNNC2	VGNC	VGNC:36190
Macaca mulatta	TNNC2	VGNC	VGNC:78603
Mus musculus	TNNC2	MGD	MGI:98780
Canis familiaris	TNNC2	VGNC	VGNC:47687

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