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FLASH GENE

Symbol

ANO3

contributors: mct - updated : 03-01-2017

HGNC name	anoctamin 3
HGNC id	14004

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DTPC3 primary cervical dystonia 3
Location	11p14.2      Physical location : 26.353.677 - 26.684.835
Synonym name	chromosome 11 open reading frame 25
	transmembrane protein 16C
	transmembrane protein 16C (eight membrane-spanning domains)
Synonym symbol(s)	GENX-3947, C11orf25, TMEM16C, DYT24

DNA

TYPE	functioning gene
STRUCTURE	331.16 kb     27 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_031418 27 - 5936 NP_113606 114.5 981 - 2004 15067359

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 blood / hematopoietic thymus         Digestive esophagus       highly Hearing/Equilibrium ear       highly Nervous brain diencephalon amygdala     Homo sapiens   brain basal nuclei striatum   highly Homo sapiens Reproductive female system placenta     highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	eight transmembrane domains
	N- and C-terminal tails facing the cytoplasm

secondary structure

eight hydrophobic helices have been found to be likely transmembrane domains and cytosolic N and C termini

HOMOLOGY

Homologene

FAMILY

anoctamin family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	targeted to the ER rather than to the cell surface

basic FUNCTION	function as Ca2+-activated chloride channel
	involved in a variety of functions that include ion transport, phospholipid scrambling, and regulation of other membrane proteins
	Ca+2-dependent phospholipid scramblase expressed in striatal-neurons

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DTPC3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS