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FLASH GENE

Symbol

ATXN2

contributors: mct/ - updated : 11-07-2017

HGNC name	ataxin 2
HGNC id	10555

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA2 spinocerebellar ataxia 2
Location	12q24.12      Physical location : 111.890.018 - 112.037.480
Synonym name	trinucleotide repeat containing 13
Synonym symbol(s)	ATX2, TNRC13, FLJ46772, ASL13, SCA2

DNA

TYPE	functioning gene
STRUCTURE	147.46 kb     25 Exon(s)

regulatory sequence	Binding site
motif	repetitive sequence   triplet
text structure	22-23 repeats interrupted by one or more triplets polyglutamine repeat s CAA(conferring stability to SCA2 repeat)
	an E-twenty six (ETS)-binding site in promoter required for ATXN2 expression
	intermediate length expansions in ATXN2 enhance fragmentation of the Golgi apparatus in cells expressing mutant FUS

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002973 25 - 4712 NP_002964 140 1313 - 2001 11311558 NM_001310121 24 splicing 3993 NP_001297050 - 1073 cerebellum 2001 11311558 lacking exon 10 NM_001310123 23 splicing 3755 NP_001297052 - 1005 - 2001 11311558 lacking exon 10-11 variant 4 - splicing - isoform 4 - 1294 brain, cerebellum, spinal cord, heart, placenta 2001 11311558 lacking exon 21

EXPRESSION

Type	ubiquitous

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 spleen       highly Cardiovascular heart         Digestive liver         Endocrine pancreas         Nervous brain limbic system hippocampus dentate gyrus     brain diencephalon hypothalamus       brain hindbrain cerebellum       spinal cord         Reproductive male system prostate     highly Respiratory lung       highly Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 15-30 CAG (polyglutamine) tract, in the 5' coding region (first exon)
	two domains SM1 and SM2 implicated in RNA splicing and protein interactions
	two proline-rich binding motifs (SBM1 and SBM2)
	a PABP-interacting motif PAM2
	a putative (ER) exit motif and a putative clathrin-mediated signal

HOMOLOGY

interspecies

homolog to murine Sca2

intraspecies

paralog to ATXN2L

Homologene

FAMILY

ataxin-2 family, like-Sm (LSm) protein family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi
	intracellular,nucleus,nucleoplasm
text	colocolazing in the perinuclear area with PLS1 and PLS3

basic FUNCTION	regulating actin cytoskeletal structure
	playing a role in regulating the susceptibility of neuroblastoma cells to apoptotic stimuli
	play a role in endocytic receptor cycling
	acts as a co-regulator of ZNF350 activating its own transcription, thereby representing the first identified ZNF350 co-activator
	plays an important role in predisposing to Amyotrophic lateral sclerosis and polyQ expansions in ataxin 2 are a significant risk factor for the disease
	is implicated mainly in mRNA processing (pMID: 23335000)
	is an RNA-binding protein that targets cis-regulatory elements in 3' UTRs to stabilize a subset of mRNAs and increase protein expression

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	A2BP1
	associating with PLS3 and LCP1
	interacting with endophilin-A1 and A3(SH3GL3 and SH3GL2), by its SH3 domain and with HD
	interacts with the DEAD/H-box RNA helicase DDX6, a component of P-bodies and stress granules (cellular ataxin-2 concentration is important for the assembly of stress granules and P-bodies, which are main compartments for regulating and controlling mRNA degradation, stability, and translation)
	interaction between ataxin-2 and TARDBP seems to require RNA
	ATXN2 and TARDBP associate in a complex that depends on RNA
	directly interact with the SH3 domains A and C of SH3KBP1 and with the SH3 domain of SRC, a kinase activated after receptor stimulation
	ZNF350 is an interaction partner of the SCA2 gene product ataxin-2
	ETS1 regulates the expression of ATXN2
	ATXN2 associates preferentially with pathological forms of FUS
	ATXN2L associates with known interaction partners of ATXN2, the RNA helicase DDX6 and the poly(A)-binding protein, and with ATXN2 itself
	modulates the levels of GRB2 and SRC but not ras signaling
	CDK5 controls the abundance of both normal and polyQ-expanded ataxin-2 protein in neurons
	binds directly to RNAs in a PABPC1-independent manner
	degradation of wildtype and mutant ATXN2 is dependent on FBXW8, and ATXN2 accumulation selectively modulates FBXW8 levels, while PARK2 might act indirectly through FBXW8
	FAM98A associates with stress granule-localized proteins, such as DDX1, ATXN2, ATXN2L, and NUFIP2

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SCA2

Susceptibility

to amyotrophic lateral sclerosis (ALS)

Variant & Polymorphism repeat , other	association between ataxin-2 and ALS
	intermediate-length polyQ expansions (27–33 glutamines) in ATXN2 were significantly associated with ALS , and expansion >30 in Europeans

Candidate gene
Marker
Therapy target	TARDBP–ATXN2 interaction may be a promising target for therapeutic intervention in ALS

ANIMAL & CELL MODELS

	a drosophhila homolog acting as a dosage-sensitive regulator of actin filament formation
	ATXN2 knockout (KO) mice show hypertrophy and insulin resistance