InnateDB Protein
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IDBP-19979.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TNNI2
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Protein Name
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troponin I type 2 (skeletal, fast)
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Synonyms
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AMCD2B; DA2B; FSSV; fsTnI;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000252898
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InnateDB Gene
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IDBG-19973 (TNNI2)
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Protein Structure
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Function |
Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
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Subcellular Localization |
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Disease Associations |
Arthrogryposis, distal, 2B (DA2B) [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. {ECO:0000269PubMed:12592607}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
9
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001978
Troponin
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PFAM |
PF00992
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P48788
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PhosphoSite |
PhosphoSite-P48788
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TrEMBL |
A0A024RCB0
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UniProt Splice Variant |
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Entrez Gene |
7136
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UniGene |
Hs.713044
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RefSeq |
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HUGO |
HGNC:11946
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OMIM |
191043
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CCDS |
CCDS31333
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HPRD |
01843
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IMGT |
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EMBL |
AC051649
AJ245761
BC032148
BI833431
CH471158
L21715
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GenPept |
AAA19813
AAH32148
CAB59981
EAX02467
EAX02468
EAX02469
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