TNNI2 - troponin I2, fast skeletal type Gene

Homo sapiens

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

Gene ID: 7136 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14851	TNNI2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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