HUMAN:ATX2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	ATXN2 (synonyms: ATX2, SCA2, TNRC13)
Protein Name(s)	Ataxin-2 Spinocerebellar ataxia type 2 protein Trinucleotide repeat-containing gene 13 protein
External Links
UniProt	Q99700
EMBL	U70323 AK128613 AC002395 AC137055 KF455720 BC114546 Y08262
CCDS	CCDS31902.1
RefSeq	NP_002964.3
UniGene	Hs.76253
PDB	3KTR
PDBsum	3KTR
ProteinModelPortal	Q99700
SMR	Q99700
BioGrid	112218
DIP	DIP-33372N
IntAct	Q99700
MINT	MINT-1414788
STRING	9606.ENSP00000366843
ChEMBL	CHEMBL1795085
PhosphoSite	Q99700
DMDM	215273941
MaxQB	Q99700
PaxDb	Q99700
PRIDE	Q99700
Ensembl	ENST00000377617 ENST00000550104
GeneID	6311
KEGG	hsa:6311
UCSC	uc001tsj.3 uc001tsl.1
CTD	6311
GeneCards	GC12M111890
GeneReviews	ATXN2
HGNC	HGNC:10555
HPA	HPA018295 HPA020339 HPA021146
MIM	183090 601517
neXtProt	NX_Q99700
Orphanet	803 98756
PharmGKB	PA34968
eggNOG	NOG268173
GeneTree	ENSGT00530000063565
HOGENOM	HOG000234354
HOVERGEN	HBG050623
InParanoid	Q99700
OMA	TYRAGKV
PhylomeDB	Q99700
TreeFam	TF326591
ChiTaRS	ATXN2
EvolutionaryTrace	Q99700
GeneWiki	ATXN2
GenomeRNAi	6311
NextBio	24501
PRO	PR:Q99700
Proteomes	UP000005640
Bgee	Q99700
CleanEx	HS_ATXN2
ExpressionAtlas	Q99700
Genevestigator	Q99700
GO	GO:0005737 GO:0010494 GO:0005794 GO:0016020 GO:0005634 GO:0048471 GO:0005844 GO:0030529 GO:0005802 GO:0005154 GO:0044822 GO:0008022 GO:0003723 GO:0021702 GO:0033962 GO:0048872 GO:0040015 GO:0002091 GO:0050905 GO:0048812 GO:0006417 GO:0016070 GO:0050658 GO:0034063
InterPro	IPR009818 IPR010920 IPR009604 IPR025852
Pfam	PF06741 PF07145 PF14438
SUPFAM	SSF50182

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
	GO:0043065	positive regulation of apoptosis	PMID:12545161^[1]	ECO:0000315			P		Figure 3	complete
part_of	GO:0016020	membrane	PMID:19946888^[2]	ECO:0007005	high throughput direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0050658	RNA transport	PMID:10814712^[3]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:17097639^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0003723	RNA binding	PMID:22681889^[5]	ECO:0007005	high throughput direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0003723	RNA binding	PMID:22658674^[6]	ECO:0007005	high throughput direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0034063	stress granule assembly	PMID:17392519^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0033962	cytoplasmic mRNA processing body assembly	PMID:17392519^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:1990904	ribonucleoprotein complex	PMID:16835262^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0016070	RNA metabolic process	PMID:15663938^[9]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0010494	cytoplasmic stress granule	PMID:17392519^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0008022	protein C-terminus binding	PMID:15663938^[9]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P11940	F		Seeded From UniProt	complete
involved_in	GO:0006417	regulation of translation	PMID:16835262^[8]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005844	polysome	PMID:16835262^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005802	trans-Golgi network	PMID:10814712^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000121)	Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:12812977^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:17097639^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:17392519^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:10814712^[3]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(CL:0000121)	Seeded From UniProt	complete
enables	GO:0005154	epidermal growth factor receptor binding	PMID:18602463^[11]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P00533	F		Seeded From UniProt	complete
enables	GO:0003723	RNA binding	PMID:10814712^[3]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0002091	negative regulation of receptor internalization	PMID:18602463^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0034063	stress granule assembly	PMID:21873635^[12]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000304339 SGD:S000003410 UniProtKB:Q8WWM7 UniProtKB:Q99700	P		Seeded From UniProt	complete
involved_in	GO:0010603	regulation of cytoplasmic mRNA processing body assembly	PMID:21873635^[12]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000304339 UniProtKB:Q8WWM7	P		Seeded From UniProt	complete
part_of	GO:0010494	cytoplasmic stress granule	PMID:21873635^[12]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000304339 PomBase:SPBC21B10.03c SGD:S000003410 UniProtKB:Q8WWM7 UniProtKB:Q99700	C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:10973246^[13]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Wiedemeyer, R et al. (2003) Ataxin-2 promotes apoptosis of human neuroblastoma cells. Oncogene 22 401-11 PubMed GONUTS page
↑ Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Shibata, H et al. (2000) A novel protein with RNA-binding motifs interacts with ataxin-2. Hum. Mol. Genet. 9 1303-13 PubMed GONUTS page
↑ ^4.0 ^4.1 Huynh, DP et al. (2007) Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Exp. Neurol. 203 531-41 PubMed GONUTS page
↑ Baltz, AG et al. (2012) The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts. Mol. Cell 46 674-90 PubMed GONUTS page
↑ Castello, A et al. (2012) Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell 149 1393-406 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 Nonhoff, U et al. (2007) Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules. Mol. Biol. Cell 18 1385-96 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 Satterfield, TF & Pallanck, LJ (2006) Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum. Mol. Genet. 15 2523-32 PubMed GONUTS page
↑ ^9.0 ^9.1 Ralser, M et al. (2005) An integrative approach to gain insights into the cellular function of human ataxin-2. J. Mol. Biol. 346 203-14 PubMed GONUTS page
↑ Huynh, DP et al. (2003) Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. Hum. Mol. Genet. 12 1485-96 PubMed GONUTS page
↑ ^11.0 ^11.1 Nonis, D et al. (2008) Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell. Signal. 20 1725-39 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Huynh, DP et al. (2000) Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat. Genet. 26 44-50 PubMed GONUTS page

[PMID:12545161-1] Wiedemeyer, R et al. (2003) Ataxin-2 promotes apoptosis of human neuroblastoma cells. Oncogene 22 401-11 PubMed GONUTS page

[PMID:19946888-2] Ghosh, D et al. (2010) Defining the membrane proteome of NK cells. J Mass Spectrom 45 1-25 PubMed GONUTS page

[PMID:10814712-3] 3.0 ^3.1 ^3.2 ^3.3 Shibata, H et al. (2000) A novel protein with RNA-binding motifs interacts with ataxin-2. Hum. Mol. Genet. 9 1303-13 PubMed GONUTS page

[PMID:17097639-4] 4.0 ^4.1 Huynh, DP et al. (2007) Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Exp. Neurol. 203 531-41 PubMed GONUTS page

[PMID:22681889-5] Baltz, AG et al. (2012) The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts. Mol. Cell 46 674-90 PubMed GONUTS page

[PMID:22658674-6] Castello, A et al. (2012) Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Cell 149 1393-406 PubMed GONUTS page

[PMID:17392519-7] 7.0 ^7.1 ^7.2 ^7.3 Nonhoff, U et al. (2007) Ataxin-2 interacts with the DEAD/H-box RNA helicase DDX6 and interferes with P-bodies and stress granules. Mol. Biol. Cell 18 1385-96 PubMed GONUTS page

[PMID:16835262-8] 8.0 ^8.1 ^8.2 Satterfield, TF & Pallanck, LJ (2006) Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. Hum. Mol. Genet. 15 2523-32 PubMed GONUTS page

[PMID:15663938-9] 9.0 ^9.1 Ralser, M et al. (2005) An integrative approach to gain insights into the cellular function of human ataxin-2. J. Mol. Biol. 346 203-14 PubMed GONUTS page

[PMID:12812977-10] Huynh, DP et al. (2003) Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. Hum. Mol. Genet. 12 1485-96 PubMed GONUTS page

[PMID:18602463-11] 11.0 ^11.1 Nonis, D et al. (2008) Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. Cell. Signal. 20 1725-39 PubMed GONUTS page

[PMID:21873635-12] 12.0 ^12.1 ^12.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:10973246-13] Huynh, DP et al. (2000) Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat. Genet. 26 44-50 PubMed GONUTS page

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HUMAN:ATX2

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