Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6311
Gene name	Ataxin 2
Gene symbol	ATXN2
Synonyms (NCBI Gene)	ATX2SCA2TNRC13
Chromosome	12
Chromosome location	12q24.12
Summary	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

148

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
MIRT689736	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT689735	hsa-miR-2114-3p	HITS-CLIP	23313552
MIRT689734	hsa-miR-6823-3p	HITS-CLIP	23313552
MIRT689733	hsa-let-7a-5p	HITS-CLIP	23313552
MIRT052164	hsa-let-7b-5p	HITS-CLIP	23313552
MIRT689732	hsa-let-7c-5p	HITS-CLIP	23313552
MIRT689731	hsa-let-7d-5p	HITS-CLIP	23313552
MIRT689730	hsa-let-7e-5p	HITS-CLIP	23313552
MIRT689729	hsa-let-7f-5p	HITS-CLIP	23313552
MIRT689728	hsa-let-7g-5p	HITS-CLIP	23313552
MIRT689727	hsa-let-7i-5p	HITS-CLIP	23313552
MIRT689726	hsa-miR-4458	HITS-CLIP	23313552
MIRT689725	hsa-miR-4500	HITS-CLIP	23313552
MIRT689724	hsa-miR-98-5p	HITS-CLIP	23313552
MIRT689723	hsa-miR-202-3p	HITS-CLIP	23313552
MIRT689722	hsa-miR-4640-5p	HITS-CLIP	23313552
MIRT689721	hsa-miR-4726-5p	HITS-CLIP	23313552
MIRT689720	hsa-miR-6508-3p	HITS-CLIP	23313552
MIRT689719	hsa-miR-342-5p	HITS-CLIP	23313552
MIRT689718	hsa-miR-4664-5p	HITS-CLIP	23313552
MIRT689717	hsa-miR-4651	HITS-CLIP	23313552
MIRT689716	hsa-miR-608	HITS-CLIP	23313552
MIRT689715	hsa-miR-6747-5p	HITS-CLIP	23313552
MIRT689714	hsa-miR-6756-5p	HITS-CLIP	23313552
MIRT689713	hsa-miR-6766-5p	HITS-CLIP	23313552
MIRT689712	hsa-miR-6769a-5p	HITS-CLIP	23313552
MIRT689711	hsa-miR-6769b-5p	HITS-CLIP	23313552
MIRT689710	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT689709	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT689708	hsa-miR-4447	HITS-CLIP	23313552
MIRT689707	hsa-miR-4472	HITS-CLIP	23313552
MIRT689706	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT689705	hsa-miR-6793-5p	HITS-CLIP	23313552
MIRT689704	hsa-miR-6737-5p	HITS-CLIP	23313552
MIRT689703	hsa-miR-6812-5p	HITS-CLIP	23313552
MIRT689702	hsa-miR-6819-5p	HITS-CLIP	23313552
MIRT689701	hsa-miR-3940-5p	HITS-CLIP	23313552
MIRT689700	hsa-miR-4507	HITS-CLIP	23313552
MIRT689699	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT624628	hsa-miR-4274	HITS-CLIP	23824327
MIRT624627	hsa-miR-4519	HITS-CLIP	23824327
MIRT624626	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT624625	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT624624	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT689739	hsa-miR-4293	HITS-CLIP	23313552
MIRT689738	hsa-miR-299-3p	HITS-CLIP	23313552
MIRT689737	hsa-miR-544b	HITS-CLIP	23313552
MIRT689736	hsa-miR-7162-3p	HITS-CLIP	23313552
MIRT689735	hsa-miR-2114-3p	HITS-CLIP	23313552
MIRT689734	hsa-miR-6823-3p	HITS-CLIP	23313552
MIRT689733	hsa-let-7a-5p	HITS-CLIP	23313552
MIRT052164	hsa-let-7b-5p	HITS-CLIP	23313552
MIRT689732	hsa-let-7c-5p	HITS-CLIP	23313552
MIRT689731	hsa-let-7d-5p	HITS-CLIP	23313552
MIRT689730	hsa-let-7e-5p	HITS-CLIP	23313552
MIRT689729	hsa-let-7f-5p	HITS-CLIP	23313552
MIRT689728	hsa-let-7g-5p	HITS-CLIP	23313552
MIRT689727	hsa-let-7i-5p	HITS-CLIP	23313552
MIRT689726	hsa-miR-4458	HITS-CLIP	23313552
MIRT689725	hsa-miR-4500	HITS-CLIP	23313552
MIRT689724	hsa-miR-98-5p	HITS-CLIP	23313552
MIRT689723	hsa-miR-202-3p	HITS-CLIP	23313552
MIRT689722	hsa-miR-4640-5p	HITS-CLIP	23313552
MIRT689721	hsa-miR-4726-5p	HITS-CLIP	23313552
MIRT689720	hsa-miR-6508-3p	HITS-CLIP	23313552
MIRT689719	hsa-miR-342-5p	HITS-CLIP	23313552
MIRT689718	hsa-miR-4664-5p	HITS-CLIP	23313552
MIRT689717	hsa-miR-4651	HITS-CLIP	23313552
MIRT689716	hsa-miR-608	HITS-CLIP	23313552
MIRT689715	hsa-miR-6747-5p	HITS-CLIP	23313552
MIRT689714	hsa-miR-6756-5p	HITS-CLIP	23313552
MIRT689713	hsa-miR-6766-5p	HITS-CLIP	23313552
MIRT689712	hsa-miR-6769a-5p	HITS-CLIP	23313552
MIRT689711	hsa-miR-6769b-5p	HITS-CLIP	23313552
MIRT689710	hsa-miR-491-5p	HITS-CLIP	23313552
MIRT689709	hsa-miR-3151-5p	HITS-CLIP	23313552
MIRT689708	hsa-miR-4447	HITS-CLIP	23313552
MIRT689707	hsa-miR-4472	HITS-CLIP	23313552
MIRT689706	hsa-miR-6742-5p	HITS-CLIP	23313552
MIRT689705	hsa-miR-6793-5p	HITS-CLIP	23313552
MIRT689704	hsa-miR-6737-5p	HITS-CLIP	23313552
MIRT689703	hsa-miR-6812-5p	HITS-CLIP	23313552
MIRT689702	hsa-miR-6819-5p	HITS-CLIP	23313552
MIRT689701	hsa-miR-3940-5p	HITS-CLIP	23313552
MIRT689700	hsa-miR-4507	HITS-CLIP	23313552
MIRT689699	hsa-miR-6796-5p	HITS-CLIP	23313552
MIRT624628	hsa-miR-4274	HITS-CLIP	23824327
MIRT624627	hsa-miR-4519	HITS-CLIP	23824327
MIRT624626	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT624625	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT624624	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT811092	hsa-miR-15a	CLIP-seq
MIRT811093	hsa-miR-15b	CLIP-seq
MIRT811094	hsa-miR-16	CLIP-seq
MIRT811095	hsa-miR-195	CLIP-seq
MIRT811096	hsa-miR-424	CLIP-seq
MIRT811097	hsa-miR-451b	CLIP-seq
MIRT811098	hsa-miR-4524	CLIP-seq
MIRT811099	hsa-miR-4699-3p	CLIP-seq
MIRT811100	hsa-miR-4724-5p	CLIP-seq
MIRT811101	hsa-miR-4738-3p	CLIP-seq
MIRT811102	hsa-miR-497	CLIP-seq
MIRT811103	hsa-miR-503	CLIP-seq
MIRT811104	hsa-miR-646	CLIP-seq
MIRT1939910	hsa-miR-1206	CLIP-seq
MIRT1939911	hsa-miR-3682-5p	CLIP-seq
MIRT1939912	hsa-miR-3688-3p	CLIP-seq
MIRT1939913	hsa-miR-433	CLIP-seq
MIRT1939914	hsa-miR-4477a	CLIP-seq
MIRT1939915	hsa-miR-4639-3p	CLIP-seq
MIRT1939916	hsa-miR-494	CLIP-seq
MIRT1939917	hsa-miR-498	CLIP-seq
MIRT1939918	hsa-miR-621	CLIP-seq
MIRT2179020	hsa-miR-2276	CLIP-seq
MIRT2179021	hsa-miR-340	CLIP-seq
MIRT2179022	hsa-miR-3545-3p	CLIP-seq
MIRT2179023	hsa-miR-4328	CLIP-seq
MIRT811098	hsa-miR-4524	CLIP-seq
MIRT2444482	hsa-miR-1321	CLIP-seq
MIRT2444483	hsa-miR-3154	CLIP-seq
MIRT2444484	hsa-miR-3529	CLIP-seq
MIRT2444485	hsa-miR-379	CLIP-seq
MIRT2444486	hsa-miR-4451	CLIP-seq
MIRT2444487	hsa-miR-4650-3p	CLIP-seq
MIRT2444488	hsa-miR-4739	CLIP-seq
MIRT2444489	hsa-miR-4756-5p	CLIP-seq
MIRT2444490	hsa-miR-765	CLIP-seq
MIRT2444491	hsa-miR-936	CLIP-seq
MIRT2482496	hsa-miR-1179	CLIP-seq
MIRT2482497	hsa-miR-1264	CLIP-seq
MIRT2482498	hsa-miR-337-3p	CLIP-seq
MIRT2179022	hsa-miR-3545-3p	CLIP-seq
MIRT2482499	hsa-miR-3651	CLIP-seq
MIRT1939912	hsa-miR-3688-3p	CLIP-seq
MIRT2482500	hsa-miR-3943	CLIP-seq
MIRT2482501	hsa-miR-4323	CLIP-seq
MIRT811101	hsa-miR-4738-3p	CLIP-seq
MIRT1939916	hsa-miR-494	CLIP-seq
MIRT2482496	hsa-miR-1179	CLIP-seq
MIRT2482497	hsa-miR-1264	CLIP-seq
MIRT2482498	hsa-miR-337-3p	CLIP-seq
MIRT2179022	hsa-miR-3545-3p	CLIP-seq
MIRT811101	hsa-miR-4738-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
ETS1	Unknown	22914732
ZNF350	Activation	20926453

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
GO:0005154	Function	Epidermal growth factor receptor binding	IPI	18602463
GO:0005515	Function	Protein binding	IPI	10814712, 15663938, 16115810, 16713569, 17097639, 17392519, 18602463, 20181956, 20740007, 23209657, 24981860, 26184334, 32814053, 33961781, 35271311, 39251607
GO:0005737	Component	Cytoplasm	IDA	10814712, 10973246, 17392519
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	12812977, 17097639
GO:0005802	Component	Trans-Golgi network	IDA	10814712
GO:0005829	Component	Cytosol	IDA
GO:0006417	Process	Regulation of translation	NAS	16835262
GO:0010494	Component	Cytoplasmic stress granule	IBA
GO:0010494	Component	Cytoplasmic stress granule	IDA	17392519
GO:0016020	Component	Membrane	HDA	19946888
GO:0016070	Process	RNA metabolic process	NAS	15663938
GO:0033962	Process	P-body assembly	IMP	17392519
GO:0034063	Process	Stress granule assembly	IBA
GO:0034063	Process	Stress granule assembly	IMP	17392519
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17097639
GO:0050658	Process	RNA transport	NAS	10814712
GO:1990904	Component	Ribonucleoprotein complex	IDA	16835262

MIM	HGNC	e!Ensembl
601517	10555	ENSG00000204842

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

	KEGG
	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis	Likely pathogenic	rs193922927	RCV001260553
Parkinson disease, late-onset	Pathogenic	rs1885090126	RCV003485686
Spinocerebellar ataxia type 2	Pathogenic; Likely pathogenic	rs193922927, rs1885090126	RCV004566534 RCV001195091 RCV005253771

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ATXN2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs748746739, rs117851901, rs140262591, rs975981325, rs140242317, rs759304594, rs781266801, rs373533079, rs763050707, rs757862555, rs763319845, rs376492019, rs780952627	RCV003914565 RCV003963238 RCV003917737 RCV004758918 RCV003946527 RCV003933951 RCV003924645 RCV003939448 RCV003914614 RCV003934369 RCV003949549 RCV003954538 RCV003981282
Colorectal cancer	Benign	rs117851901	RCV005911195
GM3 synthase deficiency	Conflicting classifications of pathogenicity	rs778119853	RCV000626170
Ovarian serous cystadenocarcinoma	-	rs202116535	RCV006061622
Thyroid cancer, nonmedullary, 1	Benign	rs117851901	RCV005911196
Tip-toe gait	Likely pathogenic, low penetrance	rs774827848	RCV002227832

Show/Hide Text Mining Associations (76)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Ataxia	Stimulate	20069235
Atrophy	Stimulate	21088341
Autoimmune Diseases	Associate	24074872
Cardiovascular Diseases	Associate	21060863, 29437585, 30642433
Celiac Disease	Associate	22144904
Cerebellar Ataxia	Associate	16436644, 22520093
Cerebellar Diseases	Associate	22258915, 35297556, 35869263
Coronary Disease	Associate	27338949, 28843344
Dementia	Associate	30642433
Depressive Disorder	Stimulate	31523939
Depressive Disorder Major	Associate	22605703
Diabetes Mellitus Type 1	Associate	22144904, 33446885
Disease	Associate	33446885, 39940702
Distal Hereditary Motor Neuropathy Type II	Associate	35297556
Drug Related Side Effects and Adverse Reactions	Associate	23048034, 27103069
Dyslipidemias	Associate	29879492
Dystonic Disorders	Stimulate	31523939
Epilepsies Partial	Associate	15008574
Epilepsy	Associate	15008574
Esophageal Squamous Cell Carcinoma	Associate	34995801
Essential Tremor	Associate	26077168
Fragile X Tremor Ataxia Syndrome	Associate	37906407
Friedreich Ataxia	Associate	9429138
Frontotemporal Dementia	Associate	24866401, 29628143, 35521889, 37146135
Frontotemporal Lobar Degeneration	Associate	21610160
Genetic Diseases Inborn	Associate	30933216
Glaucoma Open Angle	Associate	32476818, 36994723
Hashimoto Disease	Associate	27268232
Heredodegenerative Disorders Nervous System	Associate	26677855
Huntington Disease	Associate	32124191
Hypertension	Associate	22144904
Hypoalphalipoproteinemias	Associate	29879492
Inflammation	Associate	37967238
Liver Neoplasms	Associate	33058338, 35787375, 36298819, 37202167
Lung Neoplasms	Associate	30642433
Machado Joseph Disease	Associate	33058338, 9106530
Motor Neuron Disease	Associate	24866401
Motor Neuron Disease	Stimulate	27103069
Multiple System Atrophy	Associate	22605703
Multiple System Atrophy	Stimulate	29497168
Neoplasms	Associate	24894543
Nerve Degeneration	Stimulate	27103069
Neurodegenerative Diseases	Associate	21610160, 29628143, 32989052, 33058338, 33433033, 39940702
Ovarian Neoplasms	Associate	23571109
Pancreatic Neoplasms	Associate	24419231, 33660796
Parkinson Disease	Associate	29462666, 33433033
Parkinson Disease Secondary	Associate	21479228, 22623900, 23936447, 28131822
Polycystic Ovary Syndrome	Associate	37967238
Pressure Ulcer	Associate	25820152, 27736895
Proteostasis Deficiencies	Associate	28131822
Psychotic Disorders	Associate	22605703
Renal Insufficiency Chronic	Associate	20383146
Retinitis Pigmentosa	Associate	21880993
Sarcoidosis	Associate	26051272
Seizures	Stimulate	25630585
Spasms Infantile	Associate	21880993
Spinocerebellar Ataxia 11	Associate	9429138
Spinocerebellar Ataxia 12	Associate	32124191
Spinocerebellar Ataxias	Associate	11784712, 11986402, 17392519, 21479228, 21610160, 21880993, 21934711, 22666429, 22764223, 22916186, 23661442, 23936447, 23959108, 24674145, 25630585 View all (14 more)
Spinocerebellar Ataxias	Stimulate	11804332, 21088341, 29316893
Spinocerebellar Degenerations	Stimulate	24708620
Stomach Neoplasms	Associate	36213324
Supranuclear Palsy Progressive	Associate	21610160, 29801076
TDP 43 Proteinopathies	Associate	32989052
Thalassemia Beta+ Silent Allele	Associate	30933216
Thrombosis	Associate	23844121

ATXN2 (ataxin 2)