TNNI2 (troponin I2, fast skeletal type)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7136
Gene name Gene Name - the full gene name approved by the HGNC.
Troponin I2, fast skeletal type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNNI2
Synonyms (NCBI Gene) Gene synonyms aliases
AMCD2B, DA2B, DA2B1, FSSV, fsTnI
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.5
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0003009 Process Skeletal muscle contraction IBA
GO:0003009 Process Skeletal muscle contraction IDA 17194691
GO:0003779 Function Actin binding IDA 17194691
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 18331830, 24333682, 32296183, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191043 11946 ENSG00000130598
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P48788
Protein name Troponin I, fast skeletal muscle (Troponin I, fast-twitch isoform)
Protein function Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
PDB 2MKP , 7KAA
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00992 Troponin 15 → 145 Troponin Family
Sequence
Sequence length 182
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Motor proteins
Cytoskeleton in muscle cells 		  Striated Muscle Contraction
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
arthrogryposis multiplex congenita Arthrogryposis multiplex congenita N/A N/A ClinVar
Arthrogryposis multiplex congenita distal arthrogryposis type 2B1 N/A N/A GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32998690
Arthrogryposis multiplex congenita distal type 1 Associate 17103435, 21834041, 36069346, 37457373
Clubfoot Associate 21834041
Contracture Associate 21834041
Laryngeal Neoplasms Associate 36701711
Muscular Diseases Associate 37457373
Muscular Dystrophy Duchenne Stimulate 33683712
Neoplasm Metastasis Associate 34108011
Neoplasms Associate 34108011
Personality Disorders Associate 33450964