TNNC2 - troponin C2, fast skeletal type Gene

Also Known as FAP85; CFAP85

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7125

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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_8: EF-hand domain pair (32 - 83)

EF-hand_7

EF-hand_7: EF-hand domain pair (96 - 156)

  • 0
  • 100
  • 160 a.a.
Protein Preferred Names Protein Names

troponin C, skeletal muscle

  • troponin C type 2 (fast)

TNNC2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TNNC2 P02585 TNNI3 Homo sapiens Q6FGX2 25416956
Intra
TNNC2 P02585 TBC1D1 Homo sapiens Q86TI0 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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