TNNI2
entrez
7136
canonical
uniprot
P48788
canonical
ensembl
ENSG00000130598
resolver
ensembl
ENSG00000288219
resolver
ensp
ENSP00000371330
resolver
ensp
ENSP00000371331
resolver
ensp
ENSP00000371336
resolver
genesymbol
TNNI2
resolver
hgnc
HGNC:11946
resolver
uniprot
A6NIV8
resolver
uniprot
A6NJU5
resolver
uniprot_entry
TNNI2_HUMAN
resolver
uniprot_sec
A6NIV8
resolver
uniprot_sec
A6NJU5
resolver
amino_acid_sequence
MGDEEKRNRAITARRQHLKSVMLQIAATELEKEESRREAEKQNYLAEHCPPLHIPGSMSEVQELCKQLHAKIDAAEEEKYDMEVRVQKTSKELEDMNQKLFDLRGKFKRPPLRRVRMSADAMLKALLGSKHKVCMDLRANLKQVKKEDTEKERDLRDVGDWRKNIEEKSGMEGRKKMFESES
uniprot
proteins
disease_involvement
DISEASE: Arthrogryposis, distal, 2B1 (DA2B1) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B1 inheritance is autosomal dominant. {ECO:0000269|PubMed:12592607}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
uniprot
proteins
mass_dalton
21339
uniprot
proteins
protein_family
Troponin I family
uniprot
proteins
pubmed
10721725
uniprot
proteins
pubmed
12592607
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
8148383
uniprot
proteins
sequence_length
182
uniprot
proteins