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FLASH GENE

Symbol

CISD2

contributors: mct - updated : 28-08-2009

HGNC name	CDGSH iron sulfur domain 2
HGNC id	24212

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	WFS2 Wolfram syndrome 2
Location	4q24      Physical location : 103.790.134 - 103.813.961
Synonym name	mitoNEET related 1
	zinc finger, CDGSH-type domain 2
	endoplasmic reticulum intermembrane small protein
	nutrient-deprivation autophagy factor-1
Synonym symbol(s)	Miner1, ZCD2, ERIS, CDGSH2, STING, MITA

DNA

TYPE	functioning gene
STRUCTURE	19.59 kb     3 Exon(s)

MAPPING

cloned

Y

linked

Y

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001008388 3 - 1840 NP_001008389 15.15 135 - Amr (2007)

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       highly Endocrine adrenal gland       highly Urinary bladder       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal anchor sequence tethers the protein to the outer membrane
	a single -adrenergic receptor kinase site at amino acids 25-29
	21 two PKA/PKC kinase motifs at amino acids 32-34 and 67-69
	a single CK2 (formerly, casein kinase 2)
	a 39-amino-acid single zinc-finger domain of the CDGSH type, with a CCHH finger, located close to the carboxy terminus, oriented toward the cytoplasm

HOMOLOGY

Homologene

FAMILY

CISD protein family

CATEGORY

transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	may function in Fe-S cluster shuttling and/or in redox reactions
	important iron-containing protein involved in the control of maximal mitochondrial respiratory rates
	endoplasmic reticulum (ER) IFN stimulator, which is a strong type I IFN stimulator and plays a pivotal role in response to both non–self-cytosolic RNA and dsDNA (Sun 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

dimerization, induced by innate immune challenges, leads to the activation of CISD2 and, in turn, the downstream components (Sun 2009)

ASSOCIATED DISORDERS

corresponding disease(s)

WFS2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS