ATXN2 (ataxin 2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6311
Gene name Gene Name - the full gene name approved by the HGNC.
Ataxin 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATXN2
Synonyms (NCBI Gene) Gene synonyms aliases
ATX2, SCA2, TNRC13
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globula
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(148)
miRTarBase ID miRNA Experiments Reference
MIRT052164 hsa-let-7b-5p CLASH 23622248
MIRT036445 hsa-miR-1226-3p CLASH 23622248
MIRT689739 hsa-miR-4293 HITS-CLIP 23313552
MIRT689738 hsa-miR-299-3p HITS-CLIP 23313552
MIRT689737 hsa-miR-544b HITS-CLIP 23313552
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
ETS1 Unknown 22914732
ZNF350 Activation 20926453
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0002091 Process Negative regulation of receptor internalization IMP 18602463
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding NAS 10814712
GO:0003729 Function MRNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601517 10555 ENSG00000204842
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q99700
Protein name Ataxin-2 (Spinocerebellar ataxia type 2 protein) (Trinucleotide repeat-containing gene 13 protein)
Protein function Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
PDB 3KTR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14438 SM-ATX 265 → 341 Ataxin 2 SM domain Domain
PF06741 LsmAD 409 → 476 LsmAD domain Domain
PF07145 PAM2 909 → 926 Ataxin-2 C-terminal region Motif
Tissue specificity TISSUE SPECIFICITY: 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
Sequence 
MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGP
GPPPSRQSSPPSASDCFGSNGNGGGAFRPGSRRLLGLGGPPRPFVVLLLPLASPGAPPAA
PTRASPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQ
QQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRP
GLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPK
CDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISA
KVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLS
SYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSE
REGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSG
SDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPS
AHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAAT
PPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAV
AMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAEN
KGISPVVSEHRKQIDDLKKFKNDFRLQPSSTSESMDQLLNKNREGEKSRDLIKDKIEPSA
KDSFIENSSSNCTSGSSKPNSPSISPSILSNTEHKRGPEVTSQGVQTSSPACKQEKDDKE
EKKDAAEQVRKSTLNPNAKEFNPRSFSQPKPSTTPTSPRPQAQPSPSMVGHQQPTPVYTQ
PVCFAPNMMYPVPVSPGVQPLYPIPMTPMPVNQAKTYRAVPNMPQQRQDQHHQSAMMHPA
SAAGPPIAATPPAYSTQYVAYSPQQFPNQPLVQHVPHYQSQHPHVYSPVIQGNARMMAPP
THAQPGLVSSSATQYGAHEQTHAMYACPKLPYNKETSPSFYFAISTGSLAQQYAHPNATL
HPHTPHPQPSATPTGQQQSQHGGSHPAPSPVQHHQHQAAQALHLASPQQQSAIYHAGLAP
TPPSMTPASNTQSPQNSFPAAQQTVFTIHPSHVQPAYTNPPHMAHVPQAHVQSGMVPSHP
TAHAPMMLMTTQPPGGPQAALAQSALQPIPVSTTAHFPYMTHPSVQAHHQQQL
Sequence length 1313
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Amyotrophic lateral sclerosis
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (36)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alopecia Areata Alopecia areata N/A N/A GWAS
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis, susceptibility to, 13 N/A N/A ClinVar
Asthma Asthma (childhood onset), Asthma, Asthma onset (childhood vs adult), Asthma (age of onset), Age of onset of childhood onset asthma N/A N/A GWAS
Show/Hide Text Mining Associations (76)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 24894543, 39188060
Alzheimer Disease Associate 26677855
Amyotrophic Lateral Sclerosis Associate 21292779, 21479228, 21562248, 21610160, 22526021, 22764223, 22916186, 23048034, 23936447, 23959108, 24269018, 25098532, 25111021, 25382069, 25527265
View all (14 more)
Amyotrophic lateral sclerosis 1 Associate 25098532, 28642336
Antiphospholipid Syndrome Associate 23844121
Apraxia oculomotor Cogan type Stimulate 25630585
Apraxia oculomotor Cogan type Associate 30920184
Arthritis Juvenile Associate 20647273
Arthritis Rheumatoid Associate 25979711
Ataxia Associate 11804332, 18160752, 21088341, 23959108, 30920184, 8836199