Entity Details

Primary name ATX2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ99700
EntryNameATX2_HUMAN
FullNameAtaxin-2
TaxID9606
Evidenceevidence at protein level
Length1313
SequenceStatuscomplete
DateCreated2004-09-13
DateModified2021-06-02

Ontological Relatives

GenesATXN2

GO terms

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GOName
GO:0002091 negative regulation of receptor internalization
GO:0003723 RNA binding
GO:0005154 epidermal growth factor receptor binding
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005829 cytosol
GO:0005844 polysome
GO:0006417 regulation of translation
GO:0008022 protein C-terminus binding
GO:0010494 cytoplasmic stress granule
GO:0010603 regulation of cytoplasmic mRNA processing body assembly
GO:0016020 membrane
GO:0016070 RNA metabolic process
GO:0033962 P-body assembly
GO:0034063 stress granule assembly
GO:0048471 perinuclear region of cytoplasm
GO:0050658 RNA transport
GO:1990904 ribonucleoprotein complex

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR009604 LsmAD domainDomainDomain
IPR009818 Ataxin-2, C-terminalDomainDomain
IPR010920 LSM domain superfamilyFamilyHomologous superfamily
IPR025852 Ataxin 2, SM domainDomainDomain
IPR033093 Ataxin2FamilyFamily

Diseases

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Disease IDSourceNameDescription
183090 OMIMSpinocerebellar ataxia 2 (SCA2)Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs. The disease is caused by variants affecting the gene represented in this entry. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease.
183090 OMIMSpinocerebellar ataxia 2 (SCA2)Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs. Disease susceptibility is associated with variants affecting the gene represented in this entry. An increased risk for developing amyotrophic lateral sclerosis seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia.

Interactions

70 interactions

InteractorPartnerSourcesPublicationsLink
ATX2_HUMANSH3G3_HUMANBioGRID, HPRD, IntAct, MINT16115810 16713569 18602463 details
ATX2_HUMANSH3G2_HUMANBioGRID, HPRD, IntAct, MINT16115810 16713569 18602463 details
ATX2_HUMANPLSL_HUMANHPRD, IntAct16115810 details
ATX2_HUMANPLST_HUMANHPRD, IntAct16115810 details
ATX2_HUMANPABP1_HUMANBioGRID, HPRD, IntAct, UniProt15663938 17392519 20181956 24981860 26344197 29395067 32814053 details
ATX2_HUMANSCG1_HUMANBioGRID, HPRD, IntAct16169070 details
ATX2_HUMANRPA12_HUMANBioGRID, HPRD, IntAct16713569 details
ATX2_HUMANIDH3B_HUMANBioGRID, HPRD, IntAct16713569 details
ATX2_HUMANNCOA4_HUMANBioGRID, HPRD, IntAct16713569 details
ATX2_HUMANRFOX1_HUMANBioGRID, HPRD, IntAct11471052 16713569 32814053 details
ATX2_HUMANATX1_HUMANBioGRID, HPRD, IntAct16713569 32814053 details
ATX2_HUMANACTN1_HUMANBioGRID, HPRD, IntAct16713569 details
ATX2_HUMANACTN2_HUMANBioGRID, HPRD, IntAct16713569 details
ATX2_HUMANKBP_HUMANBioGRID, HPRD, IntAct16713569 details
ATX2_HUMANTDRD7_HUMANBioGRID, HPRD, IntAct16713569 details
ATX2_HUMANBAG6_HUMANBioGRID, HPRD, IntAct16713569 32814053 details
ATX2_HUMANGFI1B_HUMANBioGRID, HPRD, IntAct16713569 details
ATX2_HUMANVHL_HUMANBioGRID, IntAct17353931 32814053 details
ATX2_HUMANSUMO3_HUMANIntAct17000644 32814053 details
ATX2_HUMANDDX6_HUMANBioGRID, IntAct, MINT, UniProt17392519 24778252 24981860 26186194 28514442 29395067 details
ATX2_HUMANSTML2_HUMANIntAct32814053 details
ATX2_HUMANBRK1_HUMANIntAct32814053 details
ATX2_HUMANCD3Z_HUMANIntAct32814053 details
ATX2_HUMANBIN1_HUMANHPRD16115810 details
ATX2_HUMANATX2L_HUMANBioGRID, UniProt23209657 24981860 details
ATX2_HUMANG3BP1_HUMANBioGRID, UniProt23209657 26777405 29395067 details
ATX2_HUMANNDK8_HUMANIntAct28514442 details
ATX2_HUMANNUFP2_HUMANBioGRID, IntAct24981860 28514442 29395067 details
ATX2_HUMANTADBP_HUMANBioGRID, DIP20740007 26344197 details
ATX2_HUMANFMR1_HUMANBioGRID, MINT26949739 29395067 details
ATX2_HUMANSH3K1_HUMANBioGRID19531213 details
ATX2_HUMANEGFR_HUMANBioGRID18602463 details
ATX2_HUMANTS101_HUMANBioGRID19542561 details
ATX2_HUMANPRKN_HUMANBioGRID17097639 details
ATX2_HUMANSEM1_HUMANBioGRID24515614 details
ATX2_HUMANSEML_HUMANBioGRID24515614 details
ATX2_HUMANMOV10_HUMANBioGRID22658674 29395067 details
ATX2_HUMANLSM12_HUMANBioGRID24981860 26344197 29395067 details
ATX2_HUMANRC3H1_HUMANBioGRID29395067 30209976 details
ATX2_HUMANFBXW8_HUMANBioGRID25790475 details
ATX2_HUMANOTUD4_HUMANBioGRID29395067 details
ATX2_HUMANPRC2A_HUMANBioGRID29395067 details
ATX2_HUMANPUM1_HUMANBioGRID29395067 details
ATX2_HUMANR3HD2_HUMANBioGRID29395067 details
ATX2_HUMANTDRD3_HUMANBioGRID29395067 details
ATX2_HUMANYTHD2_HUMANBioGRID29395067 details
ATX2_HUMANMEX3B_HUMANBioGRID29395067 details
ATX2_HUMANMKRN2_HUMANBioGRID29395067 32460013 details
ATX2_HUMANPAIP2_HUMANBioGRID29395067 details
ATX2_HUMANRBM47_HUMANBioGRID29395067 details
ATX2_HUMANRBMS1_HUMANBioGRID29395067 details
ATX2_HUMANSMAP2_HUMANBioGRID29395067 details
ATX2_HUMANHNRPQ_HUMANBioGRID29395067 details
ATX2_HUMANUBP2L_HUMANBioGRID29395067 details
ATX2_HUMANUNK_HUMANBioGRID29395067 details
ATX2_HUMANYTHD1_HUMANBioGRID29395067 details
ATX2_HUMANYTHD3_HUMANBioGRID29395067 details
ATX2_HUMANZ3H7A_HUMANBioGRID29395067 details
ATX2_HUMANZCCHV_HUMANBioGRID29395067 details
ATX2_HUMANTTP_HUMANBioGRID29395067 details
ATX2_HUMANCASC3_HUMANBioGRID29395067 details
ATX2_HUMANLARP4_HUMANBioGRID29395067 details
ATX2_HUMANEST1A_HUMANBioGRID29395067 details
ATX2_HUMANXRN1_HUMANBioGRID29395067 details
ATX2_HUMANANKH1_HUMANBioGRID29395067 details
ATX2_HUMANCNOT9_HUMANBioGRID29395067 details
ATX2_HUMANSTAU2_HUMANBioGRID29395067 details
ATX2_HUMANTRA2A_HUMANBioGRID29395067 details
ATX2_HUMANTRA2B_HUMANBioGRID29395067 details
ATX2_HUMANMARF1_HUMANBioGRID29395067 details