TNNC2
entrez
7125
canonical
uniprot
P02585
canonical
ensembl
ENSG00000101470
resolver
ensp
ENSP00000361636
resolver
ensp
ENSP00000361638
resolver
enst
ENST00000372555
resolver
enst
ENST00000372557
resolver
genesymbol
TNNC2
resolver
hgnc
HGNC:11944
resolver
uniprot
C9J7T9
resolver
uniprot
Q6FH92
resolver
uniprot_entry
C9J7T9_HUMAN
resolver
uniprot_entry
TNNC2_HUMAN
resolver
uniprot_sec
Q6FH92
resolver
amino_acid_sequence
MTDQQAEARSYLSEEMIAEFKAAFDMFDADGGGDISVKELGTVMRMLGQTPTKEELDAIIEEVDEDGSGTIDFEEFLVMMVRQMKEDAKGKSEEELAECFRIFDRNADGYIDPEELAEIFRASGEHVTDEEIESLMKDGDKNNDGRIDFDEFLKMMEGVQ
uniprot
proteins
disease_involvement
DISEASE: Congenital myopathy 15 (CMYO15) [MIM:620161]: An autosomal dominant myopathy characterized by neonatal onset of hypotonia, muscle weakness, and respiratory muscle involvement resulting in severe respiratory insufficiency. The disorder improves over time, although forced vital capacity remains decreased. Other features include facial weakness, often with ptosis or external ophthalmoplegia, jaw or distal joint contractures, scoliosis, and osteopenia. {ECO:0000269|PubMed:33755597}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
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. {ECO:0000269|PubMed:33755597}.
uniprot
proteins
mass_dalton
18122
uniprot
proteins
protein_family
Troponin C family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2373703
uniprot
proteins
pubmed
3166492
uniprot
proteins
pubmed
33755597
uniprot
proteins
pubmed
978749
uniprot
proteins
sequence_length
160
uniprot
proteins