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UniProtKB - Q99700 (ATX2_HUMAN)

Protein

Ataxin-2

Gene

ATXN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.1 Publication

GO - Molecular functioni

  • epidermal growth factor receptor binding Source: UniProtKB
  • protein C-terminus binding Source: UniProtKB
  • RNA binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cytoplasmic mRNA processing body assembly Source: UniProtKB
  • negative regulation of receptor internalization Source: UniProtKB
  • regulation of cytoplasmic mRNA processing body assembly Source: GO_Central
  • regulation of translation Source: UniProtKB
  • RNA metabolic process Source: UniProtKB
  • RNA transport Source: UniProtKB
  • stress granule assembly Source: UniProtKB
View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

SIGNORiQ99700

Names & Taxonomyi

Protein namesi
Recommended name:
Ataxin-2
Alternative name(s):
Spinocerebellar ataxia type 2 protein
Trinucleotide repeat-containing gene 13 protein
Gene namesi
Name:ATXN2
Synonyms:ATX2, SCA2, TNRC13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000204842.14
HGNCiHGNC:10555 ATXN2
MIMi601517 gene
neXtProtiNX_Q99700

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 2 (SCA2)3 Publications
The disease is caused by mutations 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.
Disease descriptionSpinocerebellar 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.
See also OMIM:183090
Amyotrophic lateral sclerosis 13 (ALS13)1 Publication
Disease susceptibility is associated with variations 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.
Disease descriptionA neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
See also OMIM:183090

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration, Parkinsonism, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi6311
GeneReviewsiATXN2
MalaCardsiATXN2
MIMi183090 phenotype
OpenTargetsiENSG00000204842
Orphaneti803 Amyotrophic lateral sclerosis
98756 Spinocerebellar ataxia type 2
PharmGKBiPA34968

Chemistry databases

ChEMBLiCHEMBL1795085

Polymorphism and mutation databases

BioMutaiATXN2
DMDMi215273941

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000647561 – 1313Ataxin-2Add BLAST1313

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei248PhosphoserineBy similarity1
Modified residuei393PhosphoserineCombined sources1
Modified residuei466PhosphoserineCombined sources1
Modified residuei478PhosphoserineCombined sources1
Modified residuei508PhosphoserineCombined sources1
Modified residuei554PhosphoserineCombined sources1
Modified residuei624PhosphoserineCombined sources1
Modified residuei640Asymmetric dimethylarginine; alternateBy similarity1
Modified residuei640Omega-N-methylarginine; alternateCombined sources1
Modified residuei642PhosphoserineCombined sources1
Modified residuei684PhosphoserineCombined sources1
Modified residuei728PhosphoserineCombined sources1
Modified residuei741PhosphothreonineCombined sources1
Modified residuei772PhosphoserineCombined sources1
Modified residuei784PhosphoserineCombined sources1
Modified residuei856PhosphoserineBy similarity1
Modified residuei857PhosphoserineCombined sources1
Modified residuei861PhosphoserineCombined sources1
Modified residuei865PhosphoserineCombined sources1
Modified residuei867PhosphoserineBy similarity1
Modified residuei888PhosphoserineCombined sources1
Modified residuei889PhosphoserineCombined sources1
Cross-linki893Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ99700
MaxQBiQ99700
PaxDbiQ99700
PeptideAtlasiQ99700
PRIDEiQ99700
ProteomicsDBi78409
78410 [Q99700-2]
78411 [Q99700-3]
78412 [Q99700-4]

PTM databases

iPTMnetiQ99700
PhosphoSitePlusiQ99700

Expressioni

Tissue specificityi

Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.4 Publications

Gene expression databases

BgeeiENSG00000204842 Expressed in 229 organ(s), highest expression level in corpus callosum
CleanExiHS_ATXN2
ExpressionAtlasiQ99700 baseline and differential
GenevisibleiQ99700 HS

Organism-specific databases

HPAiHPA018295
HPA020339
HPA021146

Interactioni

Subunit structurei

Monomer (By similarity). Can also form homodimers (By similarity). Interacts with TARDBP; the interaction is RNA-dependent (PubMed:20740007). Interacts with RBFOX1 (PubMed:10814712). Interacts with polyribosomes (PubMed:16835262). Interacts with SH3GL2 and SH3GL3 (PubMed:18602463). Interacts with SH3KBP1 and CBL (By similarity). Interacts with EGFR (PubMed:18602463). Interacts with ATXN2L (PubMed:23209657).By similarity5 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112218, 80 interactors
DIPiDIP-33372N
ELMiQ99700
IntActiQ99700, 35 interactors
MINTiQ99700
STRINGi9606.ENSP00000366843

Structurei

3D structure databases

ProteinModelPortaliQ99700
SMRiQ99700
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ99700

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi47 – 158Pro-richAdd BLAST112
Compositional biasi55 – 64Poly-Pro10
Compositional biasi166 – 187Poly-GlnAdd BLAST22
Compositional biasi213 – 223Poly-SerAdd BLAST11
Compositional biasi551 – 734Pro-richAdd BLAST184
Compositional biasi929 – 1085Pro-richAdd BLAST157

Sequence similaritiesi

Belongs to the ataxin-2 family.Curated

Phylogenomic databases

eggNOGiKOG2375 Eukaryota
COG5180 LUCA
GeneTreeiENSGT00530000063565
HOGENOMiHOG000234354
HOVERGENiHBG050623
InParanoidiQ99700
OMAiQHQLPFH
OrthoDBiEOG091G01U5
PhylomeDBiQ99700
TreeFamiTF326591

Family and domain databases

InterProiView protein in InterPro
IPR009818 Ataxin-2_C
IPR033093 ATXN2
IPR010920 LSM_dom_sf
IPR009604 LsmAD_domain
IPR025852 SM_dom_ATX
PANTHERiPTHR12854:SF11 PTHR12854:SF11, 1 hit
PfamiView protein in Pfam
PF06741 LsmAD, 1 hit
PF07145 PAM2, 1 hit
PF14438 SM-ATX, 1 hit
SMARTiView protein in SMART
SM01272 LsmAD, 1 hit
SUPFAMiSSF50182 SSF50182, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 18 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99700-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRSAAAAPRS PAVATESRRF AAARWPGWRS LQRPARRSGR GGGGAAPGPY 
        60         70         80         90        100
PSAAPPPPGP GPPPSRQSSP PSASDCFGSN GNGGGAFRPG SRRLLGLGGP 
       110        120        130        140        150
PRPFVVLLLP LASPGAPPAA PTRASPLGAR ASPPRSGVSL ARPAPGCPRP 
       160        170        180        190        200
ACEPVYGPLT MSLKPQQQQQ QQQQQQQQQQ QQQQQQQQPP PAAANVRKPG 
       210        220        230        240        250
GSGLLASPAA APSPSSSSVS SSSATAPSSV VAATSGGGRP GLGRGRNSNK 
       260        270        280        290        300
GLPQSTISFD GIYANMRMVH ILTSVVGSKC EVQVKNGGIY EGVFKTYSPK 
       310        320        330        340        350
CDLVLDAAHE KSTESSSGPK REEIMESILF KCSDFVVVQF KDMDSSYAKR 
       360        370        380        390        400
DAFTDSAISA KVNGEHKEKD LEPWDAGELT ANEELEALEN DVSNGWDPND 
       410        420        430        440        450
MFRYNEENYG VVSTYDSSLS SYTVPLERDN SEEFLKREAR ANQLAEEIES 
       460        470        480        490        500
SAQYKARVAL ENDDRSEEEK YTAVQRNSSE REGHSINTRE NKYIPPGQRN 
       510        520        530        540        550
REVISWGSGR QNSPRMGQPG SGSMPSRSTS HTSDFNPNSG SDQRVVNGGV 
       560        570        580        590        600
PWPSPCPSPS SRPPSRYQSG PNSLPPRAAT PTRPPSRPPS RPSRPPSHPS 
       610        620        630        640        650
AHGSPAPVST MPKRMSSEGP PRMSPKAQRH PRNHRVSAGR GSISSGLEFV 
       660        670        680        690        700
SHNPPSEAAT PPVARTSPSG GTWSSVVSGV PRLSPKTHRP RSPRQNSIGN 
       710        720        730        740        750
TPSGPVLASP QAGIIPTEAV AMPIPAASPT PASPASNRAV TPSSEAKDSR 
       760        770        780        790        800
LQDQRQNSPA GNKENIKPNE TSPSFSKAEN KGISPVVSEH RKQIDDLKKF 
       810        820        830        840        850
KNDFRLQPSS TSESMDQLLN KNREGEKSRD LIKDKIEPSA KDSFIENSSS 
       860        870        880        890        900
NCTSGSSKPN SPSISPSILS NTEHKRGPEV TSQGVQTSSP ACKQEKDDKE 
       910        920        930        940        950
EKKDAAEQVR KSTLNPNAKE FNPRSFSQPK PSTTPTSPRP QAQPSPSMVG 
       960        970        980        990       1000
HQQPTPVYTQ PVCFAPNMMY PVPVSPGVQP LYPIPMTPMP VNQAKTYRAV 
      1010       1020       1030       1040       1050
PNMPQQRQDQ HHQSAMMHPA SAAGPPIAAT PPAYSTQYVA YSPQQFPNQP 
      1060       1070       1080       1090       1100
LVQHVPHYQS QHPHVYSPVI QGNARMMAPP THAQPGLVSS SATQYGAHEQ 
      1110       1120       1130       1140       1150
THAMYACPKL PYNKETSPSF YFAISTGSLA QQYAHPNATL HPHTPHPQPS 
      1160       1170       1180       1190       1200
ATPTGQQQSQ HGGSHPAPSP VQHHQHQAAQ ALHLASPQQQ SAIYHAGLAP 
      1210       1220       1230       1240       1250
TPPSMTPASN TQSPQNSFPA AQQTVFTIHP SHVQPAYTNP PHMAHVPQAH 
      1260       1270       1280       1290       1300
VQSGMVPSHP TAHAPMMLMT TQPPGGPQAA LAQSALQPIP VSTTAHFPYM 
      1310 
THPSVQAHHQ QQL
Length:1,313
Mass (Da):140,283
Last modified:November 25, 2008 - v2
Checksum:i40A2883FF9D5D118
GO
Isoform 2 (identifier: Q99700-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     980-995: PLYPIPMTPMPVNQAK → YQICPNSGKTSIIRVP
     996-1313: Missing.

Note: No experimental confirmation available.
Show »
Length:995
Mass (Da):106,048
Checksum:i91213B54F413FF7B
GO
Isoform 3 (identifier: Q99700-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-981: Missing.
     982-998: YPIPMTPMPVNQAKTYR → MYYAVEILFNRQSAFFS
     1106-1123: Missing.
     1124-1124: I → V
     1249-1257: AHVQSGMVP → VIPALANFL
     1258-1313: Missing.

Note: No experimental confirmation available.
Show »
Length:258
Mass (Da):27,894
Checksum:iE361B49F7A135F23
GO
Isoform 4 (identifier: Q99700-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1244-1313: Missing.

Show »
Length:1,243
Mass (Da):132,884
Checksum:i7D9C99E5F3CEC8CB
GO
Isoform 5 (identifier: Q99700-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-265: Missing.
     277-300: Missing.
     1106-1124: ACPKLPYNKETSPSFYFAI → V

Note: No experimental confirmation available.
Show »
Length:1,006
Mass (Da):109,037
Checksum:i0EBC9FFCD1630FF0
GO

Computationally mapped potential isoform sequencesi

There are 18 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VQP2F8VQP2_HUMAN
Ataxin-2
ATXN2
1,073Annotation score:
F8WB06F8WB06_HUMAN
Ataxin-2
ATXN2
1,085Annotation score:
V9GY86V9GY86_HUMAN
Ataxin-2
ATXN2
1,153Annotation score:
F8WB05F8WB05_HUMAN
Ataxin-2
ATXN2
424Annotation score:
H0YH87H0YH87_HUMAN
Ataxin-2
ATXN2
835Annotation score:
F8W0B5F8W0B5_HUMAN
Ataxin-2
ATXN2
296Annotation score:
A0A2R8Y7P6A0A2R8Y7P6_HUMAN
Ataxin-2
ATXN2
957Annotation score:
A0A2R8Y5A6A0A2R8Y5A6_HUMAN
Ataxin-2
ATXN2
1,166Annotation score:
A0A2R8YDM9A0A2R8YDM9_HUMAN
Ataxin-2
ATXN2
968Annotation score:
A0A2R8Y7E6A0A2R8Y7E6_HUMAN
Ataxin-2
ATXN2
431Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti188Missing in AAB19200 (PubMed:8896555).Curated1
Sequence conflicti188Missing in CAA69589 (PubMed:8896557).Curated1

Polymorphismi

The poly-Gln region of ATXN2 is polymorphic: 17 to 29 repeats are found in the normal population. Higher numbers of repeats result in different disease phenotypes depending on the length of the expansion.4 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_047629107L → V2 PublicationsCorresponds to variant dbSNP:rs695871EnsemblClinVar.1
Natural variantiVAR_047630248S → N. Corresponds to variant dbSNP:rs7969300Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0115741 – 981Missing in isoform 3. 1 PublicationAdd BLAST981
Alternative sequenceiVSP_0572851 – 265Missing in isoform 5. 1 PublicationAdd BLAST265
Alternative sequenceiVSP_057286277 – 300Missing in isoform 5. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_011575980 – 995PLYPI…VNQAK → YQICPNSGKTSIIRVP in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_011576982 – 998YPIPM…AKTYR → MYYAVEILFNRQSAFFS in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_011577996 – 1313Missing in isoform 2. 1 PublicationAdd BLAST318
Alternative sequenceiVSP_0572871106 – 1124ACPKL…FYFAI → V in isoform 5. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0115781106 – 1123Missing in isoform 3. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_0115791124I → V in isoform 3. 1 Publication1
Alternative sequenceiVSP_0115821244 – 1313Missing in isoform 4. CuratedAdd BLAST70
Alternative sequenceiVSP_0115801249 – 1257AHVQSGMVP → VIPALANFL in isoform 3. 1 Publication9
Alternative sequenceiVSP_0115811258 – 1313Missing in isoform 3. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70323 mRNA Translation: AAB19200.1
AK128613 mRNA Translation: BAC87528.1
AC002395 Genomic DNA No translation available.
AC137055 Genomic DNA No translation available.
KF455720 Genomic DNA No translation available.
BC114546 mRNA Translation: AAI14547.1
Y08262 mRNA Translation: CAA69589.1
CCDSiCCDS31902.1 [Q99700-1]
CCDS81738.1 [Q99700-5]
RefSeqiNP_001297052.1, NM_001310123.1 [Q99700-5]
NP_002964.3, NM_002973.3 [Q99700-1]
UniGeneiHs.732512
Hs.76253

Genome annotation databases

EnsembliENST00000377617; ENSP00000366843; ENSG00000204842 [Q99700-1]
ENST00000535949; ENSP00000439338; ENSG00000204842 [Q99700-5]
ENST00000550104; ENSP00000446576; ENSG00000204842 [Q99700-1]
ENST00000616825; ENSP00000481448; ENSG00000204842 [Q99700-5]
GeneIDi6311
KEGGihsa:6311
UCSCiuc001tsj.3 human [Q99700-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70323 mRNA Translation: AAB19200.1
AK128613 mRNA Translation: BAC87528.1
AC002395 Genomic DNA No translation available.
AC137055 Genomic DNA No translation available.
KF455720 Genomic DNA No translation available.
BC114546 mRNA Translation: AAI14547.1
Y08262 mRNA Translation: CAA69589.1
CCDSiCCDS31902.1 [Q99700-1]
CCDS81738.1 [Q99700-5]
RefSeqiNP_001297052.1, NM_001310123.1 [Q99700-5]
NP_002964.3, NM_002973.3 [Q99700-1]
UniGeneiHs.732512
Hs.76253

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3KTRX-ray1.70B912-928[»]
ProteinModelPortaliQ99700
SMRiQ99700
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112218, 80 interactors
DIPiDIP-33372N
ELMiQ99700
IntActiQ99700, 35 interactors
MINTiQ99700
STRINGi9606.ENSP00000366843

Chemistry databases

ChEMBLiCHEMBL1795085

PTM databases

iPTMnetiQ99700
PhosphoSitePlusiQ99700

Polymorphism and mutation databases

BioMutaiATXN2
DMDMi215273941

Proteomic databases

EPDiQ99700
MaxQBiQ99700
PaxDbiQ99700
PeptideAtlasiQ99700
PRIDEiQ99700
ProteomicsDBi78409
78410 [Q99700-2]
78411 [Q99700-3]
78412 [Q99700-4]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377617; ENSP00000366843; ENSG00000204842 [Q99700-1]
ENST00000535949; ENSP00000439338; ENSG00000204842 [Q99700-5]
ENST00000550104; ENSP00000446576; ENSG00000204842 [Q99700-1]
ENST00000616825; ENSP00000481448; ENSG00000204842 [Q99700-5]
GeneIDi6311
KEGGihsa:6311
UCSCiuc001tsj.3 human [Q99700-1]

Organism-specific databases

CTDi6311
DisGeNETi6311
EuPathDBiHostDB:ENSG00000204842.14
GeneCardsiATXN2
GeneReviewsiATXN2
HGNCiHGNC:10555 ATXN2
HPAiHPA018295
HPA020339
HPA021146
MalaCardsiATXN2
MIMi183090 phenotype
601517 gene
neXtProtiNX_Q99700
OpenTargetsiENSG00000204842
Orphaneti803 Amyotrophic lateral sclerosis
98756 Spinocerebellar ataxia type 2
PharmGKBiPA34968
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2375 Eukaryota
COG5180 LUCA
GeneTreeiENSGT00530000063565
HOGENOMiHOG000234354
HOVERGENiHBG050623
InParanoidiQ99700
OMAiQHQLPFH
OrthoDBiEOG091G01U5
PhylomeDBiQ99700
TreeFamiTF326591

Enzyme and pathway databases

SIGNORiQ99700

Miscellaneous databases

ChiTaRSiATXN2 human
EvolutionaryTraceiQ99700
GeneWikiiATXN2
GenomeRNAii6311
PROiPR:Q99700
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204842 Expressed in 229 organ(s), highest expression level in corpus callosum
CleanExiHS_ATXN2
ExpressionAtlasiQ99700 baseline and differential
GenevisibleiQ99700 HS

Family and domain databases

InterProiView protein in InterPro
IPR009818 Ataxin-2_C
IPR033093 ATXN2
IPR010920 LSM_dom_sf
IPR009604 LsmAD_domain
IPR025852 SM_dom_ATX
PANTHERiPTHR12854:SF11 PTHR12854:SF11, 1 hit
PfamiView protein in Pfam
PF06741 LsmAD, 1 hit
PF07145 PAM2, 1 hit
PF14438 SM-ATX, 1 hit
SMARTiView protein in SMART
SM01272 LsmAD, 1 hit
SUPFAMiSSF50182 SSF50182, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiATX2_HUMAN
AccessioniPrimary (citable) accession number: Q99700
Secondary accession number(s): A6NLD4
, Q24JQ7, Q6ZQZ7, Q99493
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: November 25, 2008
Last modified: November 7, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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