ATXN2L - ataxin 2 like Gene

Also Known as A2D; A2LG; A2LP; A2RP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11273

About ATXN2L

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:28,822,999-28,837,232 (from NCBI)

This gene has 26 transcripts (splice variants), 229 orthologues and 1 paralogue. Broad expression in testis (RPKM 66.0), spleen (RPKM 26.9) and 25 other tissues.

Summary

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 transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ATXN2L Products (45)

mRNA Protein Name
NM_001308230.2 NP_001295159.1 ataxin-2-like protein isoform 7
NM_001387166.1 NP_001374095.1 ataxin-2-like protein isoform 8
NM_001387167.1 NP_001374096.1 ataxin-2-like protein isoform 3
NM_001387168.1 NP_001374097.1 ataxin-2-like protein isoform 3
NM_001387169.1 NP_001374098.1 ataxin-2-like protein isoform 9
NM_001387170.1 NP_001374099.1 ataxin-2-like protein isoform 9
NM_001387171.1 NP_001374100.1 ataxin-2-like protein isoform 10
NM_001387172.1 NP_001374101.1 ataxin-2-like protein isoform 11
NM_001387173.1 NP_001374102.1 ataxin-2-like protein isoform 12
NM_001387174.1 NP_001374103.1 ataxin-2-like protein isoform 13
NM_001387175.1 NP_001374104.1 ataxin-2-like protein isoform 13
NM_001387176.1 NP_001374105.1 ataxin-2-like protein isoform 13
NM_001387177.1 NP_001374106.1 ataxin-2-like protein isoform 13
NM_001387178.1 NP_001374107.1 ataxin-2-like protein isoform 14
NM_001387179.1 NP_001374108.1 ataxin-2-like protein isoform 15
NM_001387180.1 NP_001374109.1 ataxin-2-like protein isoform 16
NM_001387181.1 NP_001374110.1 ataxin-2-like protein isoform 17
NM_001387182.1 NP_001374111.1 ataxin-2-like protein isoform 18
NM_001387183.1 NP_001374112.1 ataxin-2-like protein isoform 19
NM_001387184.1 NP_001374113.1 ataxin-2-like protein isoform 20
NM_001387185.1 NP_001374114.1 ataxin-2-like protein isoform 21
NM_001387186.1 NP_001374115.1 ataxin-2-like protein isoform 22
NM_001387187.1 NP_001374116.1 ataxin-2-like protein isoform 23
NM_001387188.1 NP_001374117.1 ataxin-2-like protein isoform 24
NM_001387189.1 NP_001374118.1 ataxin-2-like protein isoform 25
NM_001387190.1 NP_001374119.1 ataxin-2-like protein isoform 26
NM_001387191.1 NP_001374120.1 ataxin-2-like protein isoform 27
NM_001387192.1 NP_001374121.1 ataxin-2-like protein isoform 28
NM_001387193.1 NP_001374122.1 ataxin-2-like protein isoform 29
NM_001387194.1 NP_001374123.1 ataxin-2-like protein isoform 30
NM_001387195.1 NP_001374124.1 ataxin-2-like protein isoform 31
NM_001387196.1 NP_001374125.1 ataxin-2-like protein isoform 31
NM_001387197.1 NP_001374126.1 ataxin-2-like protein isoform 32
NM_001387198.1 NP_001374127.1 ataxin-2-like protein isoform 31
NM_001387199.1 NP_001374128.1 ataxin-2-like protein isoform 33
NM_001387200.1 NP_001374129.1 ataxin-2-like protein isoform 34
NM_001387202.1 NP_001374131.1 ataxin-2-like protein isoform 35
NM_001387203.1 NP_001374132.1 ataxin-2-like protein isoform 36
NM_001387204.1 NP_001374133.1 ataxin-2-like protein isoform 37
NM_007245.4 NP_009176.2 ataxin-2-like protein isoform 1
NM_017492.4 NP_059867.3 ataxin-2-like protein isoform 6
NM_145714.3 NP_663760.1 ataxin-2-like protein isoform 2
NM_148414.3 NP_680780.1 ataxin-2-like protein isoform 3
NM_148415.3 NP_680781.1 ataxin-2-like protein isoform 4
NM_148416.3 NP_680782.1 ataxin-2-like protein isoform 5

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
11784712 GOA
Biological Process GO Annotation Evidence Références Source
involved in mRNA metabolic process IMP
IMP: Inferred from mutant phenotype
23209657 GOA
Cellular Component GO Annotation Evidence Références Source
located in cytoplasmic stress granule IDA
IDA: Inferred from direct assay
23209657 GOA
located in membrane IDA
IDA: Inferred from direct assay
11784712 GOA
located in nuclear speck IDA
IDA: Inferred from direct assay
23209657 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATXN2L Protein Structure

SM-ATX

SM-ATX: Ataxin 2 SM domain (122 - 191)

LsmAD

LsmAD: LsmAD domain (264 - 333)

PAM2

PAM2: Ataxin-2 C-terminal region (654 - 669)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1075 a.a.
Protein Preferred Names Protein Names

ataxin-2-like protein

  • ataxin 2 related protein

ATXN2L Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
ATXN2L Q8WWM7 G3BP1 Homo sapiens Q13283
Anti Bait CoIP
23209657
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spinocerebellar Ataxia 2

  • Spinocerebellar Ataxia Type 2

  • SCA2

  • Amyotrophic Lateral Sclerosis 13

  • Spinocerebellar Degeneration With Slow Eye Movements

  • SDSEM

  • Spinocerebellar Atrophy Ii

  • Olivopontocerebellar Atrophy Ii

  • Opca2

  • Cerebellar Degeneration With Slow Eye Movements

  • Wadia-Swami Syndrome

  • Amyotrophic Lateral Sclerosis Type 13

  • ALS13

  • Olivopontocerebellar Atrophy Holguin Type

  • Spinocerebellar Ataxia Cuban Type

  • Olivopontocerebellar Atrophy, Holguin Type

  • Spinocerebellar Ataxia, Cuban Type

  • Amyotrophic Lateral Sclerosis, Susceptibility To, 13

  • Olivopontocerebellar Atrophy 2

  • Sca 2

  • Spinocerebellar Ataxia With Slow Eye Movements

  • Spinocerebellar Atrophy 2

  • Wadia Swami Syndrome

  • Opca Ii

  • Spinocerebellar Ataxia-2

  • Ataxia, Spinocerebellar, Type 2
Combined Oxidative Phosphorylation Deficiency 4

  • COXPD4

  • Combined Oxidative Phosphorylation Defect Type 4

  • Combined Oxidative Phosphorylation Deficiency, Type 4
Alkhurma Hemorrhagic Fever

  • Alkhumra Haemorrhagic Fever
Algoneurodystrophy

  • Reflex Sympathetic Dystrophy

  • Algoneurodystrophy, Site Unspecified
Kyasanur Forest Disease

  • Kfd

  • Monkey Fever

  • Kfd Virus

  • Kyasanur Hemorrhagic Fever

  • Monkey Disease

  • Monkey Diseases

  • Kfd - [ Kyasanur Forest Disease]

  • Monkey Sickness
Niemann-Pick Disease, Type C2

  • NPC2

  • Niemann-Pick Disease Type C2

  • Niemann-Pick C2 Disease

  • Niemann-Pick Disease C2
Angelman Syndrome

  • AS

  • Happy Puppet Syndrome

  • Happy Puppet Syndrome, Formerly

  • Puppetlike Syndrome
Noonan Syndrome 1

  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS01257 ATXN2L Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21824 Atxn2l Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28341 Atxn2l Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus ATXN2L VGNC VGNC:26341
Rattus norvegicus ATXN2L RGD RGD:1565868
Macaca mulatta ATXN2L VGNC VGNC:70159
Mus musculus ATXN2L MGD MGI:2446242
Felis catus ATXN2L VGNC VGNC:60038
Canis familiaris ATXN2L VGNC VGNC:38302
Others ATXN2L NCBI