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FLASH GENE

Symbol

TNNI2

contributors: mct/npt/pgu - updated : 28-12-2016

HGNC name	troponin I type 2 (skeletal, fast)
HGNC id	11946

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMCD2B arthrogryposis multiplex congenita, distal, type IIB
Location	11p15.5      Physical location : 1.860.232 - 1.862.910
Synonym name	troponin I2, inhibitory subunit
	troponin I, skeletal, fast
	troponin I, fast-twitch skeletal muscle isoform
	troponin I fast twitch 2
Synonym symbol(s)	AMCD2B, DA2B, FSSV, fTnI

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	organized in pair with TNNT3
STRUCTURE	2.01 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
text structure	putative regulatory element in the 5'region and a region containing MEF2, E-box, CCAC and CAGG element

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - TNNI2 - D11S922 - D11S932 - D11S1350 - cen

regionally located

tightly linked to TNNT2 and ELF3

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed TNNI2 7 - 700 21.21 182 - 2008 18548613

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive pharynx         Nervous nerve

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	ortholog to murine Tnni2
	homolog to C.elegans W03F8.1

intraspecies	homolog to TNNI1
	homolog to TNNI3

Homologene

FAMILY

troponin I family

CATEGORY

motor/contractile , regulatory , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	preventing actin and myosin interaction in resting muscle tissue
	involved in the regulation of muscle contraction
	may be playing a role in regulation of smooth muscle function
	playing potentially a role in regulation of smooth muscle function
	inhibitory subunit of the troponin complex in the sarcomeric thin filament of striated muscle and plays a central role in the calcium regulation of contraction and relaxation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	inhibitory subunit of troponin
	Troponin consists of three subunits: an inhibitory subunit TNNI2, a Ca2+-binding subunit TNNC2, and TNNT2

INTERACTION

DNA

RNA

small molecule

protein

binding to actin-tropomyosin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMCD2B

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS