TNNI2 - troponin I2, fast skeletal type Gene

Also Known as DA2B; FSSV; DA2B1; fsTnI; AMCD2B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7136

About TNNI2

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:1,838,981-1,841,678 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 499 orthologues, 2 paralogues and is associated with 3 phenotypes. Biased expression in esophagus (RPKM 41.2), prostate (RPKM 27.4) and 5 other tissues.

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 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]

TNNI2 Products (3)

mRNA	Protein	Name
NM_001145829.2	NP_001139301.1	troponin I, fast skeletal muscle isoform 1
NM_001145841.2	NP_001139313.1	troponin I, fast skeletal muscle isoform 2
NM_003282.4	NP_003273.1	troponin I, fast skeletal muscle isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to actin binding	IDA IDA: Inferred from direct assay	17194691	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18331830	GOA
enables troponin T binding	IPI IPI: Inferred from physical interaction	17194691	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	18331830	GOA
involved in skeletal muscle contraction	IDA IDA: Inferred from direct assay	17194691	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	18331830	GOA
part of troponin complex	IDA IDA: Inferred from direct assay	17194691	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TNNI2 Protein Structure

Troponin

0
100
182 a.a.

Protein Preferred Names	Protein Names
troponin I, fast skeletal muscle	troponin I fast twitch 2

TNNI2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TNNI2	P48788	CTNNA3	Homo sapiens	Q9UI47-2	Validated Y2H	32296183
Intra	TNNI2	P48788	ESRRG	Homo sapiens	P62508-3	Validated Y2H	32296183
Intra	TNNI2	P48788	EFCAB2	Homo sapiens	Q5VUJ9-2	Validated Y2H	32296183
Intra	TNNI2	P48788	DCAF11	Homo sapiens	Q8TEB1	Validated Y2H	32296183
Intra	TNNI2	P48788	PSMC5	Homo sapiens	P62195	Validated Y2H	32296183
Intra	TNNI2	P48788	TNNC1	Homo sapiens	P63316	Anti Tag CoIP	33961781
Intra	TNNI2	P48788	MNS1	Homo sapiens	Q8NEH6	Validated Y2H	32296183
Intra	TNNI2	P48788	NME7	Homo sapiens	Q9Y5B8	Validated Y2H	32296183
Intra	TNNI2	P48788	AIRIM	Homo sapiens	Q9NX04	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

TNNI2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82087	Troponin I Antibody (YA1832)	WB, IP	Human, Mouse, Rat
HY-P84352	Troponin I Antibody (YA4049)	ICC/IF, FC, ELISA	Human
HY-P84352A	Troponin I Antibody (YA4049)(PBS only)	ICC/IF, FC, ELISA	Human
HY-P85399	Troponin I-FS Antibody (YA5091)	WB; IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Arthrogryposis, Distal, Type 2b1	Sheldon-Hall Syndrome Freeman-Sheldon Syndrome Variant Distal Arthrogryposis Type 2b1 DA2B1 Arthrogryposis Multiplex Congenita, Distal, Type 2b Shs Distal Arthrogryposis Type 2b Fssv Arthrogryposis Multiplex Congenita Distal Type 2b Arthrogryposis Multiplex Congenita Distal Type Ii With Craniofacial Abnormalities Da2b Arthrogryposis Multiplex Congenita, Distal, Type Ii, With Craniofacial Abnormalities Distal Arthrogryposis Type Iib Freeman Sheldon Syndrome, Variant Freeman Sheldon Variant Arthrogryposis, Distal, 2b1 Amcd2b
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Arthrogryposis, Distal, Type 2a	Freeman-Sheldon Syndrome Craniocarpotarsal Dystrophy Craniocarpotarsal Dysplasia DA2A Whistling Face-Windmill Vane Hand Syndrome Fss Distal Arthrogryposis Type 2a Whistling Face Syndrome Freeman-Burian Syndrome Arthrogryposis Distal Type 2a Distal Arthrogryposis, Type 2a Fbs Arthrogryposis, Distal, 2a
Arthrogryposis, Distal, Type 5	Oculomelic Amyoplasia Distal Arthrogryposis Type 5 Distal Arthrogryposis Type Iib DA5 Arthrogryposis With Oculomotor Limitation And Electroretinal Abnormalities Daiib Distal Arthrogryposis Type 2b Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome Distal Arthrogryposis With Ophthalmoplegia Arthrogryposis- Oculomotor Limitation-Electroretinal Anomalies Syndrome Arthrogryposis, Distal, Type Iib Da2b Freeman-Sheldon Syndrome Variant Sheldon-Hall Syndrome Arthogryposis With Oculomotor Limitation And Electroretinal Abnormalities Arthrogryposis Ophthalmoplegia Retinopathy Arthrogryposis, Distal, 5 Arthrogryposis, Distal, Type 2b
Arthrogryposis, Distal, Type 10	DA10 Distal Arthrogryposis Type 10 Short Achilles Tendon Plantar Flexion Contracture Short Tendo Calcaneus Congenital Plantar Contractures Tendo Calcaneus, Short
Arthrogryposis, Distal, Type 5d	Distal Arthrogryposis Type 5d DA5D Distal Arthrogryposis Type 5 Without Ophthalmoparesis Distal Arthrogryposis Type 5 Without Ophthalmoplegia Arthrogryposis, Distal, 5d
Arthrogryposis, Distal, Type 2b3	DA2B3 Distal Arthrogryposis Type 2b3 Arthrogryposis, Distal, 2b3
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Arthrogryposis, Distal, Type 7	Hecht Syndrome Trismus-Pseudocamptodactyly Syndrome Distal Arthrogryposis Type 7 Dutch-Kentucky Syndrome DA7 Hecht-Beals Syndrome Mouth, Inability To Open Completely, And Short Finger-Flexor Tendons Mouth, Inability To Completely Open, And Short Finger-Flexor Tendons Arthrogryposis Distal Type 7 Trismus Pseudocamptodactyly Syndrome Arthrogryposis, Distal, 7
Lethal Congenital Contracture Syndrome 4	LCCS4 Contracture Syndrome, Lethal, Congenital, Type 4
Myopathy, Congenital, Compton-North	Compton-North Congenital Myopathy MYPCN Congenital Lethal Myopathy, Compton-North Type
Fissured Tongue	Furrowed Tongue Plicated Tongue Tongue, Fissured Congenital Fissure Of Tongue Congenital Plicated Tongue Fissure Of Tongue Fissure Of Tongue, Congenital Geographic Tongue And Fissured Tongue Lingua Plicata Scrotal Tongue
Myopathy	Muscular Diseases Myopathies
Orofacial Cleft 8	OFC8 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 8 Non-Syndromic Cleft Lip/Palate 8 Non-Syndromic Cleft Lip With Or Without Cleft Palate 8 Orofacial Cleft, Type 8
Cardiomyopathy, Dilated, 1m	Dilated Cardiomyopathy 1m CMD1M Cardiomyopathy, Dilated 1m Cardiomyopathy, Dilated, Type 1m
Spondylocarpotarsal Synostosis Syndrome	SCT Spondylocarpotarsal Syndrome Vertebral Fusion With Carpal Coalition Congenital Scoliosis With Unilateral Unsegmented Bar Congenital Synspondylism Spondylocarpotarsal Synostosis Synspondylism, Congenital Scoliosis, Congenital, With Unilateral Unsegmented Bar Scoliosis, Congenital With Unilateral Unsegmented Bar Synspondylism Congenital Sct Syndrome Synspondylism
Nemaline Myopathy 5	Amish Nemaline Myopathy NEM5 Anm Nemaline Myopathy, Amish Type Nemaline Myopathy 5, Amish Type Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene Nemaline Myopathy, Type 5 Nemaline Myopathy Amish Type Tnnt1-Related Nemaline Myopathy Myopathy, Nemaline, Type 5
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Jacobs Syndrome Arthropathy-Camptodactyly Syndrome Pericarditis-Arthropathy-Camptodactyly Syndrome Xyy Syndrome Pac Syndrome Cacp Syndrome CACP Fibrosing Serositis, Familial Camptodactyly-Arthropathy-Pericarditis Syndrome Cap Syndrome 47, Xyy Syndrome 47,Xyy Syndrome Double Y Syndrome Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Hypertrophic Synovitis, Congenital Familial Congenital Familial Hypertrophic Synovitis Xyy Karyotype Y Disomy Yy Syndrome Familial Fibrosing Serositis Disomy Y Double Y Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Arthropathy Camptodactyly Syndrome Camptodactyly Arthropathy Pericarditis Syndrome Pericarditis Arthropathy Camptodactyly Syndrome Jacob'S Syndrome 47,Xyy Cdags Syndrome
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14851	TNNI2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22868	Tnni2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29382	Tnni2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TNNI2	VGNC	VGNC:81103
Bos taurus	TNNI2	VGNC	VGNC:36192
Canis familiaris	TNNI2	VGNC	VGNC:52055
Macaca mulatta	TNNI2	VGNC	VGNC:78604
Rattus norvegicus	TNNI2	RGD	RGD:62050
Mus musculus	TNNI2	MGD	MGI:105070
Others	TNNI2	NCBI