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FLASH GENE

Symbol

ANO5

contributors: mct - updated : 10-01-2013

HGNC name	anoctamin 5
HGNC id	27337

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	GDD gnathodiaphyseal dysplasia LGMD2L limb-girdle muscular dystrophy 2L MMD3 Miyoshi myopathy 3
Location	11p14.3      Physical location : 22.214.721 - 22.304.913
Synonym name	gnathodiaphyseal dysplasia 1 protein
	transmembrane protein 16E
	integral membrane protein GDD1
Synonym symbol(s)	GDD1, TMEM16E

DNA

TYPE	functioning gene
STRUCTURE	90.19 kb     22 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_213599 22 - 6661 NP_998764 107 913 - 2009 19015192 NM_001142649 22 - 6658 NP_001136121 - 912 - 2009 19015192

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 Cardiovascular heart         Endocrine neuroendocrine pituitary     highly   parathyroid       highly Hearing/Equilibrium ear       highly Nervous brain         Homo sapiens Urinary kidney

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Skeleton osteoblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	during embryogenesis is first expressed in the somites, particularly in the myotomal cells, and then in the muscle progenitor cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	eight-transmembrane domains
	the N- and C-termini located in the cytosol
	five putative N-glycosylation sites
	a potential endoplasmic reticulum (ER) retention signal (at the C-terminus (AKST)

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to murine Tmem16e

Homologene

FAMILY

anoctamin family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,vesicle
text	integral membrane glycoprotein that resides predominantly in intracellular vesicles, in vesicular membranes

basic FUNCTION	playing a role in the regulation of intracellular calcium homeostasis (Ca2+-activated Cl- channels)
	may play a role in the stimulation of both myogenic precursor cell proliferation and muscle
	may play an important role in the dysferlin-dependent muscle membrane repair pathway hypertrophy/regeneration processes
	putative calcium-activated chloride channel function that may lead to important insights into the role of deficient skeletal muscle membrane repair in muscular dystrophies
	involved in a variety of functions that include ion transport, phospholipid scrambling, and regulation of other membrane proteins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GDD , LGMD2L , MMD3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS