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UniProtKB - Q99700 (ATX2_HUMAN)

Entry version 181 (02 Dec 2020)
Sequence version 2 (25 Nov 2008)
Previous versions | rss
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Protein

Ataxin-2

Gene

ATXN2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q99700

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q99700

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ataxin-2
Alternative name(s):
Spinocerebellar ataxia type 2 protein
Trinucleotide repeat-containing gene 13 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ATXN2
Synonyms:ATX2, SCA2, TNRC13
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000204842.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:10555, ATXN2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601517, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q99700

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
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.
Related information in OMIM

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration, Parkinsonism, Spinocerebellar ataxia

Organism-specific databases

DisGeNET

More...DisGeNETi		6311

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ATXN2

MalaCards human disease database

More...MalaCardsi		ATXN2
MIMi183090, phenotype

Open Targets

More...OpenTargetsi		ENSG00000204842

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		803, Amyotrophic lateral sclerosis
98756, Spinocerebellar ataxia type 2

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34968

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q99700, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1795085

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ATXN2

Domain mapping of disease mutations (DMDM)

More...DMDMi		215273941

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000647561 – 1313Ataxin-2Add BLAST1313

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki893Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q99700

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q99700

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q99700

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q99700

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q99700

PeptideAtlas

More...PeptideAtlasi		Q99700

PRoteomics IDEntifications database

More...PRIDEi		Q99700

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		61268
78409 [Q99700-1]
78410 [Q99700-2]
78411 [Q99700-3]
78412 [Q99700-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q99700

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q99700

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q99700

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q99700

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000204842, Expressed in corpus callosum and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q99700, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q99700, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000204842, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112218, 97 interactors

Database of interacting proteins

More...DIPi		DIP-33372N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q99700

Protein interaction database and analysis system

More...IntActi		Q99700, 60 interactors

Molecular INTeraction database

More...MINTi		Q99700

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000366843

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q99700

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q99700, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q99700

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q99700

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the ataxin-2 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2375, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156812

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q99700

Identification of Orthologs from Complete Genome Data

More...OMAi		APMMMHQ

Database of Orthologous Groups

More...OrthoDBi		282700at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q99700

TreeFam database of animal gene trees

More...TreeFami		TF326591

Family and domain databases

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...IDEALi		IID00580

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009818, Ataxin-2_C
IPR033093, ATXN2
IPR010920, LSM_dom_sf
IPR009604, LsmAD_domain
IPR025852, SM_dom_ATX

The PANTHER Classification System

More...PANTHERi		PTHR12854:SF11, PTHR12854:SF11, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06741, LsmAD, 1 hit
PF07145, PAM2, 1 hit
PF14438, SM-ATX, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01272, LsmAD, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50182, SSF50182, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 23 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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.

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

Show »
Length:1,006
Mass (Da):109,037
Checksum:i0EBC9FFCD1630FF0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 23 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VQP2F8VQP2_HUMAN
Ataxin-2
ATXN2
1,073Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WB06F8WB06_HUMAN
Ataxin-2
ATXN2
1,087Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GY86V9GY86_HUMAN
Ataxin-2
ATXN2
1,153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WB05F8WB05_HUMAN
Ataxin-2
ATXN2
424Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YH87H0YH87_HUMAN
Ataxin-2
ATXN2
835Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5A6A0A2R8Y5A6_HUMAN
Ataxin-2
ATXN2
1,166Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7P6A0A2R8Y7P6_HUMAN
Ataxin-2
ATXN2
957Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YDM9A0A2R8YDM9_HUMAN
Ataxin-2
ATXN2
968Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7E6A0A2R8Y7E6_HUMAN
Ataxin-2
ATXN2
1,158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A5F9ZH85A0A5F9ZH85_HUMAN
Ataxin-2
ATXN2
347Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti188Missing in AAB19200 (PubMed:8896555).Curated1
Sequence conflicti188Missing in CAA69589 (PubMed:8896557).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_047629107L → V2 PublicationsCorresponds to variant dbSNP:rs695871Ensembl.1
Natural variantiVAR_047630248S → N. Corresponds to variant dbSNP:rs7969300Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS81738.1 [Q99700-5]

NCBI Reference Sequences

More...RefSeqi		NP_001297052.1, NM_001310123.1 [Q99700-5]
NP_002964.3, NM_002973.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000535949; ENSP00000439338; ENSG00000204842 [Q99700-5]
ENST00000550104; ENSP00000446576; ENSG00000204842 [Q99700-1]
ENST00000616825; ENSP00000481448; ENSG00000204842 [Q99700-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6311

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6311

UCSC genome browser

More...UCSCi		uc001tsj.3, human [Q99700-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism, Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS81738.1 [Q99700-5]
RefSeqiNP_001297052.1, NM_001310123.1 [Q99700-5]
NP_002964.3, NM_002973.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3KTRX-ray1.70B912-928[»]
SMRiQ99700
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112218, 97 interactors
DIPiDIP-33372N
ELMiQ99700
IntActiQ99700, 60 interactors
MINTiQ99700
STRINGi9606.ENSP00000366843

Chemistry databases

BindingDBiQ99700
ChEMBLiCHEMBL1795085

PTM databases

iPTMnetiQ99700
MetOSiteiQ99700
PhosphoSitePlusiQ99700
SwissPalmiQ99700

Polymorphism and mutation databases

BioMutaiATXN2
DMDMi215273941

Proteomic databases

EPDiQ99700
jPOSTiQ99700
MassIVEiQ99700
MaxQBiQ99700
PaxDbiQ99700
PeptideAtlasiQ99700
PRIDEiQ99700
ProteomicsDBi61268
78409 [Q99700-1]
78410 [Q99700-2]
78411 [Q99700-3]
78412 [Q99700-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18563, 264 antibodies

Genome annotation databases

EnsembliENST00000535949; 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

Comparative Toxicogenomics Database

More...CTDi		6311
DisGeNETi6311
EuPathDBiHostDB:ENSG00000204842.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		ATXN2
GeneReviewsiATXN2
HGNCiHGNC:10555, ATXN2
HPAiENSG00000204842, Low tissue specificity
MalaCardsiATXN2
MIMi183090, phenotype
601517, gene
neXtProtiNX_Q99700
OpenTargetsiENSG00000204842
Orphaneti803, Amyotrophic lateral sclerosis
98756, Spinocerebellar ataxia type 2
PharmGKBiPA34968

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2375, Eukaryota
GeneTreeiENSGT00940000156812
InParanoidiQ99700
OMAiAPMMMHQ
OrthoDBi282700at2759
PhylomeDBiQ99700
TreeFamiTF326591

Enzyme and pathway databases

PathwayCommonsiQ99700
SIGNORiQ99700

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6311, 10 hits in 849 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ATXN2, human
EvolutionaryTraceiQ99700

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ATXN2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6311
PharosiQ99700, Tbio

Protein Ontology

More...PROi		PR:Q99700
RNActiQ99700, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000204842, Expressed in corpus callosum and 237 other tissues
ExpressionAtlasiQ99700, baseline and differential
GenevisibleiQ99700, HS

Family and domain databases

IDEALiIID00580
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiATX2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99700
Secondary accession number(s): A6NLD4
, Q24JQ7, Q6ZQZ7, Q99493
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: November 25, 2008
Last modified: December 2, 2020
This is version 181 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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