TNNI2 (troponin I2, fast skeletal type)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7136
Gene name Troponin I2, fast skeletal type
Gene symbol TNNI2
Synonyms (NCBI Gene)
AMCD2BDA2BDA2B1FSSVfsTnI
Chromosome 11
Chromosome location 11p15.5
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
191043 11946 ENSG00000130598
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
72
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Calcaneovalgus deformity Pathogenic rs104894312 RCV000415208
Congenital finger flexion contractures Pathogenic rs104894312 RCV000415208
Distal arthrogryposis Pathogenic rs104894312 RCV000415208
Distal arthrogryposis type 2B1 Likely pathogenic; Pathogenic rs1589797083, rs797046046, rs2493967214, rs1847181948, rs104894311, rs104894312, rs199474801, rs199474800, rs2493967150, rs1589797063 RCV001809112
RCV000193314
RCV003131744
RCV003234952
RCV000013248
RCV000013249
RCV000013250
RCV000013252
RCV003988979
RCV000855524
Show/Hide Unknown Diseases (7)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arthrogryposis multiplex congenita Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs907610, rs181679318, rs778403065, rs200628572, rs117830156, rs200110633, rs777907501, rs201612866, rs776016888, rs770213642, rs139399106, rs543012338 RCV000361293
RCV000265562
RCV000282121
RCV000392126
RCV000261204
RCV000266804
RCV000352138
RCV000305926
RCV000403436
RCV000317931
RCV000392125
RCV000359377
Arthrogryposis multiplex congenita distal Conflicting classifications of pathogenicity; Uncertain significance rs181679318, rs778403065, rs200628572, rs200110633, rs777907501, rs201612866, rs770213642, rs139399106, rs543012338 RCV000364828
RCV000371974
RCV000288998
RCV000317217
RCV000292625
RCV000404460
RCV000386500
RCV000343871
RCV000309337
Familial cancer of breast Likely benign rs142532304 RCV005892648
Lung cancer Likely benign rs142532304 RCV005892650
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease 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