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Aliases for TNNI2 Gene

Aliases for TNNI2 Gene

  • Troponin I2, Fast Skeletal Type 2 3 5
  • Troponin I, Fast-Twitch Skeletal Muscle Isoform 2 3
  • Troponin I Type 2 (Skeletal, Fast) 2 3
  • Troponin I, Fast-Twitch Isoform 3 4
  • Troponin I, Skeletal, Fast 2 3
  • Troponin I Fast Twitch 2 2 3
  • Arthrogryposis Multiplex Congenita, Distal, Type 2B 2
  • Troponin I, Fast Skeletal Muscle 3
  • AMCD2B 3
  • FsTnI 3
  • DA2B 3
  • FSSV 3

External Ids for TNNI2 Gene

Previous HGNC Symbols for TNNI2 Gene

  • AMCD2B

Previous GeneCards Identifiers for TNNI2 Gene

  • GC11M000778
  • GC11M001963
  • GC11P001819
  • GC11P001825
  • GC11P001821
  • GC11P001824
  • GC11P001860
  • GC11P001651

Summaries for TNNI2 Gene

Entrez Gene Summary for TNNI2 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 for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for TNNI2 Gene

TNNI2 (Troponin I2, Fast Skeletal Type) is a Protein Coding gene. Diseases associated with TNNI2 include Arthrogryposis, Distal, Type 5 and Distal Arthrogryposis. Among its related pathways are Activation of cAMP-Dependent PKA and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include actin binding and troponin T binding. An important paralog of this gene is TNNI1.

UniProtKB/Swiss-Prot for TNNI2 Gene

  • Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.

Gene Wiki entry for TNNI2 Gene

Additional gene information for TNNI2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TNNI2 Gene

Genomics for TNNI2 Gene

GeneHancer (GH) Regulatory Elements for TNNI2 Gene

Promoters and enhancers for TNNI2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J001837 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.4 +2.9 2859 9.5 HDGF PKNOX1 MLX ARNT ARID4B DMAP1 YBX1 IRF4 YY1 ZNF207 TNNI2 IFITM10 LSP1 LINC01219 C11orf21 SYT8 GC11P001831
GH11J001770 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 17.4 -67.0 -67041 3.8 HDGF PKNOX1 CLOCK ATF1 ARNT NEUROD1 SIN3A ZBTB7B ARID2 ZFP91 SNORA52 TSPAN4 PIDD1 IFITM10 TNNI2 ENSG00000255142 SYT8 KRTAP5-6 LOC100505570 FAM99B
GH11J001849 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 8.5 +13.8 13815 6.3 HDGF SMAD1 STAT5A BMI1 BATF KLF5 IRF4 RAD21 ZNF207 ZNF143 LSP1 KCNQ1OT1 TNNI2 TNNT3 H19 C11orf21 TSPAN32 IGF2 GC11P001831
GH11J001780 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -56.7 -56694 3.4 HDAC1 PKNOX1 TCF12 FOS ATF7 EGR2 USF2 CEBPB MEF2D MAFF LSP1 TNNI2 ENSG00000250397 SYT8 TOLLIP LOC105376517 RPL36AP39
GH11J001870 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.7 +32.6 32552 2.3 CTCF POLR2A EZH2 ZKSCAN1 TNNT3 TNNI2 SYT8 LSP1 GC11P001865 MIR7847 GC11P001831
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TNNI2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TNNI2 gene promoter:
  • Lmo2
  • Tal-1beta
  • E47
  • AP-4
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Roaz

Genomic Locations for TNNI2 Gene

Genomic Locations for TNNI2 Gene
chr11:1,838,989-1,841,680
(GRCh38/hg38)
Size:
2,692 bases
Orientation:
Plus strand
chr11:1,860,219-1,862,910
(GRCh37/hg19)
Size:
2,692 bases
Orientation:
Plus strand

Genomic View for TNNI2 Gene

Genes around TNNI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TNNI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TNNI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TNNI2 Gene

Proteins for TNNI2 Gene

  • Protein details for TNNI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48788-TNNI2_HUMAN
    Recommended name:
    Troponin I, fast skeletal muscle
    Protein Accession:
    P48788
    Secondary Accessions:
    • A6NIV8
    • A6NJU5

    Protein attributes for TNNI2 Gene

    Size:
    182 amino acids
    Molecular mass:
    21339 Da
    Quaternary structure:
    • Binds to actin and tropomyosin.

    Three dimensional structures from OCA and Proteopedia for TNNI2 Gene

    Alternative splice isoforms for TNNI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TNNI2 Gene

Post-translational modifications for TNNI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TNNI2 Gene

No data available for DME Specific Peptides for TNNI2 Gene

Domains & Families for TNNI2 Gene

Gene Families for TNNI2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for TNNI2 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TNNI2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P48788

UniProtKB/Swiss-Prot:

TNNI2_HUMAN :
  • Belongs to the troponin I family.
Family:
  • Belongs to the troponin I family.
genes like me logo Genes that share domains with TNNI2: view

Function for TNNI2 Gene

Molecular function for TNNI2 Gene

UniProtKB/Swiss-Prot Function:
Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.
GENATLAS Biochemistry:
troponin I2,inhibitory subunit,component of the troponin complex forming the calcium-sensitive molecular switch that regulates striated muscle contraction in response to modifications in intracellular concentration,fast twitch skeletal muscle,organized in pair with TNNT3,tightly linked to TNNT2 and ELF3

Phenotypes From GWAS Catalog for TNNI2 Gene

Gene Ontology (GO) - Molecular Function for TNNI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 contributes_to actin binding IEA,IDA 17194691
GO:0005515 protein binding IPI 18331830
GO:0031014 troponin T binding IPI 17194691
genes like me logo Genes that share ontologies with TNNI2: view
genes like me logo Genes that share phenotypes with TNNI2: view

Human Phenotype Ontology for TNNI2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TNNI2 Gene

MGI Knock Outs for TNNI2:
  • Tnni2 Tnni2<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNI2

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for TNNI2 Gene

Localization for TNNI2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TNNI2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TNNI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 18331830
GO:0005829 cytosol TAS --
GO:0005861 troponin complex IDA,IEA 17194691
genes like me logo Genes that share ontologies with TNNI2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TNNI2 Gene

Pathways & Interactions for TNNI2 Gene

genes like me logo Genes that share pathways with TNNI2: view

Pathways by source for TNNI2 Gene

1 BioSystems pathway for TNNI2 Gene
2 Reactome pathways for TNNI2 Gene

Gene Ontology (GO) - Biological Process for TNNI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IDA 17194691
GO:0006936 muscle contraction IBA --
GO:0006937 regulation of muscle contraction IEA --
GO:0030049 muscle filament sliding TAS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 18331830
genes like me logo Genes that share ontologies with TNNI2: view

No data available for SIGNOR curated interactions for TNNI2 Gene

Drugs & Compounds for TNNI2 Gene

(2) Drugs for TNNI2 Gene - From: DGIdb and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
TIRAMSETIV Pharma 0
genes like me logo Genes that share compounds with TNNI2: view

Transcripts for TNNI2 Gene

mRNA/cDNA for TNNI2 Gene

(3) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(225) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TNNI2 Gene

Troponin I type 2 (skeletal, fast):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TNNI2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TNNI2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1: -
SP2:

Relevant External Links for TNNI2 Gene

GeneLoc Exon Structure for
TNNI2
ECgene alternative splicing isoforms for
TNNI2

Expression for TNNI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TNNI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TNNI2 Gene

This gene is overexpressed in Muscle - Skeletal (x49.0).

Protein differential expression in normal tissues from HIPED for TNNI2 Gene

This gene is overexpressed in Tonsil (34.0) and Esophagus (24.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TNNI2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TNNI2 Gene:

TNNI2

SOURCE GeneReport for Unigene cluster for TNNI2 Gene:

Hs.523403

Evidence on tissue expression from TISSUES for TNNI2 Gene

  • Muscle(5)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TNNI2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TNNI2: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TNNI2 Gene

Orthologs for TNNI2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TNNI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TNNI2 34 33
  • 97.99 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TNNI2 34
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tnni2 33
  • 91.58 (n)
cow
(Bos Taurus)
Mammalia TNNI2 34 33
  • 91.39 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tnni2 16 34 33
  • 91.21 (n)
dog
(Canis familiaris)
Mammalia TNNI2 34 33
  • 90.11 (n)
OneToOne
chicken
(Gallus gallus)
Aves TNNI2 34 33
  • 78.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TNNI2 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tnni2 33
  • 71.79 (n)
Str.5547 33
zebrafish
(Danio rerio)
Actinopterygii tnni2a.1 34 33
  • 67.64 (n)
OneToMany
tnni2b.1 34
  • 60 (a)
OneToMany
tnni2a.4 34
  • 59 (a)
OneToMany
tnni2a.3 34
  • 57 (a)
OneToMany
tnni2a.2 34
  • 56 (a)
OneToMany
tnni2b.2 34
  • 56 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11013 34
  • 39 (a)
OneToMany
Species where no ortholog for TNNI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TNNI2 Gene

ENSEMBL:
Gene Tree for TNNI2 (if available)
TreeFam:
Gene Tree for TNNI2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TNNI2: view image

Paralogs for TNNI2 Gene

Paralogs for TNNI2 Gene

(2) SIMAP similar genes for TNNI2 Gene using alignment to 1 proteins:

  • TNNI2_HUMAN
genes like me logo Genes that share paralogs with TNNI2: view

Variants for TNNI2 Gene

Sequence variations from dbSNP and Humsavar for TNNI2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs104894311 pathogenic, Distal arthrogryposis type 2B, not provided, Arthrogryposis, distal, 2B (DA2B) [MIM:601680] 1,841,523(+) G/A coding_sequence_variant, missense_variant
rs104894312 pathogenic, not-provided, Distal arthrogryposis type 2B, not provided, Calcaneovalgus deformity, Congenital finger flexion contractures, Distal arthrogryposis, Ulnar deviation of the wrist 1,841,468(+) C/T coding_sequence_variant, stop_gained
rs117830156 likely-benign, Arthrogryposis multiplex congenita, Arthrogryposis multiplex congenita distal 1,841,645(+) C/T 3_prime_UTR_variant
rs139399106 uncertain-significance, likely-benign, Arthrogryposis multiplex congenita distal, Arthrogryposis multiplex congenita, not specified 1,841,141(+) G/A coding_sequence_variant, synonymous_variant
rs181679318 uncertain-significance, likely-benign, Arthrogryposis multiplex congenita, not specified, Arthrogryposis multiplex congenita distal 1,840,441(+) G/C coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for TNNI2 Gene

Variant ID Type Subtype PubMed ID
esv29980 CNV loss 17803354
nsv1047474 CNV gain 25217958
nsv1112602 CNV deletion 24896259
nsv467645 CNV gain 19166990
nsv467647 CNV loss 19166990
nsv469926 CNV loss 18288195
nsv522320 CNV loss 19592680
nsv553047 CNV gain 21841781
nsv553050 CNV loss 21841781
nsv553052 CNV gain 21841781
nsv553053 CNV loss 21841781
nsv553054 CNV loss 21841781
nsv553055 CNV loss 21841781
nsv951281 CNV deletion 24416366

Variation tolerance for TNNI2 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TNNI2 Gene

Human Gene Mutation Database (HGMD)
TNNI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TNNI2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TNNI2 Gene

Disorders for TNNI2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TNNI2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 5
  • da5
distal arthrogryposis
  • freeman-sheldon syndrome
digitotalar dysmorphism
  • ulnar drift, hereditary
fissured tongue
  • congenital fissure of tongue
atrophy of testis
- elite association - COSMIC cancer census association via MalaCards
Search TNNI2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TNNI2_HUMAN
  • 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:0000269 PubMed:12592607}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TNNI2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TNNI2: view

No data available for Genatlas for TNNI2 Gene

Publications for TNNI2 Gene

  1. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. (PMID: 12592607) Sung SS … Bamshad M (American journal of human genetics 2003) 2 3 4 58
  2. Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2). (PMID: 10721725) Mullen AJ … Barton PJ (Gene 2000) 3 4 22 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. (PMID: 16802141) Jiang M … Li J (Human genetics 2006) 3 22 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TNNI2 Gene

Sources for TNNI2 Gene

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