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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11273
Gene name Gene Name - the full gene name approved by the HGNC.	Ataxin 2 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATXN2L
Synonyms (NCBI Gene) Gene synonyms aliases	A2D, A2LG, A2LP, A2RP
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcript

Show/Hide all(159)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023136	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT025212	hsa-miR-34a-5p	Proteomics	21566225
MIRT025212	hsa-miR-34a-5p	Proteomics	21566225
MIRT025212	hsa-miR-34a-5p	Proteomics	21566225
MIRT025212	hsa-miR-34a-5p	Proteomics	21566225
MIRT030105	hsa-miR-26b-5p	Microarray	19088304
MIRT031977	hsa-miR-16-5p	Proteomics	18668040
MIRT052632	hsa-let-7a-5p	CLASH	23622248
MIRT051974	hsa-let-7b-5p	CLASH	23622248
MIRT051974	hsa-let-7b-5p	CLASH	23622248
MIRT051554	hsa-let-7e-5p	CLASH	23622248
MIRT051389	hsa-let-7f-5p	CLASH	23622248
MIRT031977	hsa-miR-16-5p	CLASH	23622248
MIRT049467	hsa-miR-92a-3p	CLASH	23622248
MIRT043652	hsa-miR-326	CLASH	23622248
MIRT043087	hsa-miR-324-5p	CLASH	23622248
MIRT042988	hsa-miR-324-3p	CLASH	23622248
MIRT040952	hsa-miR-18a-3p	CLASH	23622248
MIRT039381	hsa-miR-421	CLASH	23622248
MIRT037491	hsa-miR-744-5p	CLASH	23622248
MIRT037491	hsa-miR-744-5p	CLASH	23622248
MIRT037491	hsa-miR-744-5p	CLASH	23622248
MIRT036758	hsa-miR-760	CLASH	23622248
MIRT036019	hsa-miR-1301-3p	CLASH	23622248
MIRT195017	hsa-miR-5692a	PAR-CLIP	21572407
MIRT544705	hsa-miR-3156-5p	PAR-CLIP	21572407
MIRT544704	hsa-miR-7161-3p	PAR-CLIP	21572407
MIRT544703	hsa-miR-141-5p	PAR-CLIP	21572407
MIRT544702	hsa-miR-3691-3p	PAR-CLIP	21572407
MIRT195016	hsa-miR-4670-3p	PAR-CLIP	21572407
MIRT195013	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT195017	hsa-miR-5692a	PAR-CLIP	21572407
MIRT544705	hsa-miR-3156-5p	PAR-CLIP	21572407
MIRT544704	hsa-miR-7161-3p	PAR-CLIP	21572407
MIRT544703	hsa-miR-141-5p	PAR-CLIP	21572407
MIRT544702	hsa-miR-3691-3p	PAR-CLIP	21572407
MIRT195016	hsa-miR-4670-3p	PAR-CLIP	21572407
MIRT195013	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT811105	hsa-miR-1233	CLIP-seq
MIRT811106	hsa-miR-1302	CLIP-seq
MIRT811107	hsa-miR-146b-3p	CLIP-seq
MIRT811108	hsa-miR-3173-5p	CLIP-seq
MIRT811109	hsa-miR-3607-5p	CLIP-seq
MIRT811110	hsa-miR-3665	CLIP-seq
MIRT811111	hsa-miR-4298	CLIP-seq
MIRT811112	hsa-miR-4648	CLIP-seq
MIRT811113	hsa-miR-4654	CLIP-seq
MIRT811114	hsa-miR-4687-5p	CLIP-seq
MIRT811115	hsa-miR-4767	CLIP-seq
MIRT811116	hsa-miR-4769-5p	CLIP-seq
MIRT811117	hsa-miR-552	CLIP-seq
MIRT811118	hsa-miR-657	CLIP-seq
MIRT811119	hsa-miR-764	CLIP-seq
MIRT811120	hsa-miR-3133	CLIP-seq
MIRT811121	hsa-miR-3136-3p	CLIP-seq
MIRT811122	hsa-miR-3153	CLIP-seq
MIRT811123	hsa-miR-377	CLIP-seq
MIRT811124	hsa-miR-4506	CLIP-seq
MIRT811125	hsa-miR-4668-5p	CLIP-seq
MIRT811126	hsa-miR-4773	CLIP-seq
MIRT811127	hsa-miR-569	CLIP-seq
MIRT811128	hsa-miR-668	CLIP-seq
MIRT1939919	hsa-miR-1236	CLIP-seq
MIRT1939920	hsa-miR-1275	CLIP-seq
MIRT1939921	hsa-miR-1293	CLIP-seq
MIRT1939922	hsa-miR-1294	CLIP-seq
MIRT1939923	hsa-miR-2392	CLIP-seq
MIRT1939924	hsa-miR-31	CLIP-seq
MIRT811120	hsa-miR-3133	CLIP-seq
MIRT811121	hsa-miR-3136-3p	CLIP-seq
MIRT1939925	hsa-miR-3144-5p	CLIP-seq
MIRT811122	hsa-miR-3153	CLIP-seq
MIRT1939926	hsa-miR-3191	CLIP-seq
MIRT1939927	hsa-miR-3192	CLIP-seq
MIRT1939928	hsa-miR-340	CLIP-seq
MIRT1939929	hsa-miR-3545-5p	CLIP-seq
MIRT1939930	hsa-miR-3605-5p	CLIP-seq
MIRT1939931	hsa-miR-3616-3p	CLIP-seq
MIRT1939932	hsa-miR-3689a-3p	CLIP-seq
MIRT1939933	hsa-miR-3689c	CLIP-seq
MIRT1939934	hsa-miR-376c	CLIP-seq
MIRT1939935	hsa-miR-3925-3p	CLIP-seq
MIRT1939936	hsa-miR-4271	CLIP-seq
MIRT1939937	hsa-miR-4316	CLIP-seq
MIRT1939938	hsa-miR-4463	CLIP-seq
MIRT1939939	hsa-miR-4483	CLIP-seq
MIRT1939940	hsa-miR-4492	CLIP-seq
MIRT1939941	hsa-miR-4498	CLIP-seq
MIRT1939942	hsa-miR-4505	CLIP-seq
MIRT811124	hsa-miR-4506	CLIP-seq
MIRT1939943	hsa-miR-4525	CLIP-seq
MIRT1939944	hsa-miR-4639-3p	CLIP-seq
MIRT1939945	hsa-miR-4652-5p	CLIP-seq
MIRT1939946	hsa-miR-4665-5p	CLIP-seq
MIRT811125	hsa-miR-4668-5p	CLIP-seq
MIRT1939947	hsa-miR-4696	CLIP-seq
MIRT1939948	hsa-miR-4712-3p	CLIP-seq
MIRT1939949	hsa-miR-4723-5p	CLIP-seq
MIRT1939950	hsa-miR-4725-3p	CLIP-seq
MIRT1939951	hsa-miR-4728-5p	CLIP-seq
MIRT1939952	hsa-miR-4731-5p	CLIP-seq
MIRT1939953	hsa-miR-4738-5p	CLIP-seq
MIRT811126	hsa-miR-4773	CLIP-seq
MIRT1939954	hsa-miR-4781-5p	CLIP-seq
MIRT1939955	hsa-miR-491-5p	CLIP-seq
MIRT1939956	hsa-miR-548n	CLIP-seq
MIRT1939957	hsa-miR-558	CLIP-seq
MIRT811127	hsa-miR-569	CLIP-seq
MIRT1939958	hsa-miR-615-3p	CLIP-seq
MIRT1939959	hsa-miR-625	CLIP-seq
MIRT1939960	hsa-miR-637	CLIP-seq
MIRT811128	hsa-miR-668	CLIP-seq
MIRT1939961	hsa-miR-762	CLIP-seq
MIRT1939962	hsa-miR-766	CLIP-seq
MIRT2179024	hsa-miR-1207-5p	CLIP-seq
MIRT1939921	hsa-miR-1293	CLIP-seq
MIRT1939922	hsa-miR-1294	CLIP-seq
MIRT2179025	hsa-miR-18a	CLIP-seq
MIRT2179026	hsa-miR-18b	CLIP-seq
MIRT1939923	hsa-miR-2392	CLIP-seq
MIRT1939924	hsa-miR-31	CLIP-seq
MIRT2179027	hsa-miR-3120-5p	CLIP-seq
MIRT811120	hsa-miR-3133	CLIP-seq
MIRT811121	hsa-miR-3136-3p	CLIP-seq
MIRT1939925	hsa-miR-3144-5p	CLIP-seq
MIRT811122	hsa-miR-3153	CLIP-seq
MIRT1939926	hsa-miR-3191	CLIP-seq
MIRT2179028	hsa-miR-342-3p	CLIP-seq
MIRT1939930	hsa-miR-3605-5p	CLIP-seq
MIRT1939931	hsa-miR-3616-3p	CLIP-seq
MIRT1939932	hsa-miR-3689a-3p	CLIP-seq
MIRT1939933	hsa-miR-3689c	CLIP-seq
MIRT811123	hsa-miR-377	CLIP-seq
MIRT1939935	hsa-miR-3925-3p	CLIP-seq
MIRT1939937	hsa-miR-4316	CLIP-seq
MIRT1939938	hsa-miR-4463	CLIP-seq
MIRT1939939	hsa-miR-4483	CLIP-seq
MIRT811124	hsa-miR-4506	CLIP-seq
MIRT1939945	hsa-miR-4652-5p	CLIP-seq
MIRT811125	hsa-miR-4668-5p	CLIP-seq
MIRT1939947	hsa-miR-4696	CLIP-seq
MIRT1939948	hsa-miR-4712-3p	CLIP-seq
MIRT1939951	hsa-miR-4728-5p	CLIP-seq
MIRT2179029	hsa-miR-4735-3p	CLIP-seq
MIRT2179030	hsa-miR-4736	CLIP-seq
MIRT1939953	hsa-miR-4738-5p	CLIP-seq
MIRT2179031	hsa-miR-4761-5p	CLIP-seq
MIRT2179032	hsa-miR-4763-3p	CLIP-seq
MIRT811126	hsa-miR-4773	CLIP-seq
MIRT1939954	hsa-miR-4781-5p	CLIP-seq
MIRT2179033	hsa-miR-486-3p	CLIP-seq
MIRT1939955	hsa-miR-491-5p	CLIP-seq
MIRT811127	hsa-miR-569	CLIP-seq
MIRT2179034	hsa-miR-593	CLIP-seq
MIRT1939959	hsa-miR-625	CLIP-seq
MIRT2179035	hsa-miR-636	CLIP-seq
MIRT811128	hsa-miR-668	CLIP-seq
MIRT1939962	hsa-miR-766	CLIP-seq
MIRT2179031	hsa-miR-4761-5p	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11784712, 19615732, 23209657, 24981860
GO:0005829	Component	Cytosol	IDA
GO:0010494	Component	Cytoplasmic stress granule	IBA	21873635
GO:0010494	Component	Cytoplasmic stress granule	IDA	23209657
GO:0010603	Process	Regulation of cytoplasmic mRNA processing body assembly	IBA	21873635
GO:0010603	Process	Regulation of cytoplasmic mRNA processing body assembly	IDA	23209657
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	11784712
GO:0016607	Component	Nuclear speck	IDA	23209657
GO:0034063	Process	Stress granule assembly	IBA	21873635
GO:0034063	Process	Stress granule assembly	IMP	23209657
GO:0045296	Function	Cadherin binding	HDA	25468996

MIM	HGNC	e!Ensembl
607931	31326	ENSG00000168488

Protein

UniProt ID

Q8WWM7

Protein name

Ataxin-2-like protein (Ataxin-2 domain protein) (Ataxin-2-related protein)

Protein function

Involved in the regulation of stress granule and P-body formation.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14438	SM-ATX	120 → 196	Ataxin 2 SM domain	Domain
PF06741	LsmAD	264 → 332	LsmAD domain	Domain
PF07145	PAM2	654 → 669	Ataxin-2 C-terminal region	Motif

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in thymus, lymph node, spleen, fetal kidney and adult testis. Constitutively associated with MPL and EPOR in hematopoietic cells. {ECO:0000269|PubMed:11784712}.

Sequence

MLKPQPLQQPSQPQQPPPTQQAVARRPPGGTSPPNGGLPGPLATSAAPPGPPAAASPCLG
PVAAAGSGLRRGAEGILAPQPPPPQQHQERPGAAAIGSARGQSTGKGPPQSPVFEGVYNN
SRMLHFLTAVVGSTCDVKVKNGTTYEGIFKTLSSKFELAVDAVHRKASEPAGGPRREDIV
DTMVFKPSDVMLVHFRNVDFNYATKDKFTDSAIAMNSKVNGEHKEKVLQRWEGGDSNSDD
YDLESDMSNGWDPNEMFKFNEENYGVKTTYDSSLSSYTVPLEKDNSEEFRQRELRAAQLA
REIESSPQYRLRIAMENDDGRTEEEKHSAVQRQGSGRESPSLASREGKYIPLPQRVREGP
RGGVRCSSSRGGRPGLSSLPPRGPHHLDNSSPGPGSEARGINGGPSRMSPKAQRPLRGAK
TLSSPSNRPSGETSVPPPPAVGRMYPPRSPKSAAPAPISASCPEPPIGSAVPTSSASIPV
TSSVSDPGVGSISPASPKISLAPTDVKELSTKEPGRTLEPQELARIAGKVPGLQNEQKRF
QLEELRKFGAQFKLQPSSSPENSLDPFPPRILKEEPKGKEKEVDGLLTSEPMGSPVSSKT
ESVSDKEDKPPLAPSGGTEGPEQPPPPCPSQTGSPPVGLIKGEDKDEGPVAEQVKKSTLN
PNAKEFNPTKPLLSVNKSTSTPTSPGPRTHSTPSIPVLTAGQSGLYSPQYISYIPQIHMG
PAVQAPQMYPYPVSNSVPGQQGKYRGAKGSLPPQRSDQHQPASAPPMMQAAAAAGPPLVA
ATPYSSYIPYNPQQFPGQPAMMQPMAHYPSQPVFAPMLQSNPRMLTSGSHPQAIVSSSTP
QYPSAEQPTPQALYATVHQSYPHHATQLHAHQPQPATTPTGSQPQSQHAAPSPVQHQAGQ
APHLGSGQPQQNLYHPGALTGTPPSLPPGPSAQSPQSSFPQPAAVYAIHHQQLPHGFTNM
AHVTQAHVQTGITAAPPPHPGAPHPPQVMLLHPPQSHGGPPQGAVPQSGVPALSASTPSP
YPYIGHPQGEQPGQAPGFPGGADDRIREFSLAGGIWHGRAEGLQVGQDARVLGGE

Sequence length

1075

Interactions

View interactions

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

Show/Hide Causal Diseases (7)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	26301688
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs869025224	26301688
Common variable immunodeficiency	Common Variable Immunodeficiency	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113 View all (35 more)	26301688
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	26301688
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	19915574
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039 View all (4 more)	22190364
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26301688

Show/Hide Unknown Diseases (5)

Disease term	Disease name	References	Source
Unknown
Celiac disease	Celiac Disease	26301688	ClinVar
Crohn disease	Crohn Disease	26301688	ClinVar
Inflammatory Bowel Disease	Inflammatory Bowel Disease		GWAS
Hypogonadism	Hypogonadism		GWAS
Diabetes	Diabetes		GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
Adrenocortical Carcinoma	Associate	33776902
Drug Hypersensitivity	Associate	29679657
Inflammatory Bowel Diseases	Associate	19915574
Meningioma	Associate	37515398
Obesity	Associate	26449484
Spinocerebellar Ataxias	Associate	11784712
Stomach Neoplasms	Associate	30787271
Thyroid Cancer Papillary	Associate	34315405

ATXN2L (ataxin 2 like)