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FLASH GENE

Symbol

TNNC2

contributors: mct - updated : 24-10-2012

HGNC name	troponin C type 2 (fast)
HGNC id	11944

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	20q13.12      Physical location : 44.451.856 - 44.455.953
Synonym name	troponin C, skeletal muscle
	troponin C2, calcium binding subunit
Synonym symbol(s)	fTnC

DNA

TYPE	functioning gene
STRUCTURE	4.10 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D20S908 - D20S99 - D20S169 - D20S721 - TNNC2 - D20S196 - D20S173 - qter
Authors	Tiso (97),Townsend (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003279 6 - 698 NP_003270 18 160 - 1997 9459007

EXPRESSION

Type

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       predominantly   vessel aorta       Mus musculus Digestive liver         Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to C.elegans T21H3.3

Homologene

FAMILY

troponin C family

CATEGORY

motor/contractile , regulatory , structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton

basic FUNCTION	acting as a fast twitch skeletal muscle regulatory protein
	involved in regulation of muscle contraction
	calcium-binding subunit of troponin
	has a very low affinity for the plasma membrane Ca2+-ATPase and is a poor substitute for CALM1 in increasing the enzyme's affinity for Ca2+ and the rate of ATP hydrolysis
	playing potentially a role in regulation of smooth muscle function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

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

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to isolated clubfoot

Variant & Polymorphism SNP	variants influencing risk for isolated clubfoot

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS