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FLASH GENE

Symbol

TMTC3

contributors: mct - updated : 06-12-2016

HGNC name	transmembrane and tetratricopeptide repeat containing 3
HGNC id	26899

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COBM2 Cobblestone brain malformation 2
Location	12q21.32      Physical location : 88.536.072 - 88.593.663
Synonym name	SMILE protein
Synonym symbol(s)	FLJ90492, SMILE

DNA

TYPE	functioning gene
STRUCTURE	57.59 kb     14 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_181783 14 - 7203 NP_861448 - 914 - 2011 21603654

EXPRESSION

Type

widely

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 Hearing/Equilibrium ear       highly Urinary bladder       highly   kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	nine transmembrane domains
	ten tetratricopeptide repeats

HOMOLOGY

Homologene

FAMILY

TMTC family

CATEGORY

motor/contractile

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	localizes to the endoplasmic reticulum (ER)

basic FUNCTION	is involved in the endoplasmic reticulum stress response, by modulating proteasome activity and XBP1 transcript expression
	may mediate myofibroblast development through modulation of TGFB1 signaling
	likely TMTC1, TMTC2, TMTC3 actively participate in ER function and homeostasis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interaction of TMTC3 with PDIA3, a molecule resident in the endoplasmic reticulum (ER)
	regulates likely the glycosylation of alpha-dystroglycan, potentially explaining the functional defects observed during the development in the absence of a functional TMTC3 protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COBM2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS