ENSMUSG00000042605


Mus musculus

Features
Gene ID: ENSMUSG00000042605
  
Biological name :Atxn2
  
Synonyms : ataxin 2 / Atxn2
  
Possible biological names infered from orthology : Q99700
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: F
Gene start: 121711337
Gene end: 121816493
  
Corresponding Affymetrix probe sets: 10525313 (MoGene1.0st)   1419866_s_at (Mouse Genome 430 2.0 Array)   1438143_s_at (Mouse Genome 430 2.0 Array)   1438144_x_at (Mouse Genome 430 2.0 Array)   1443516_at (Mouse Genome 430 2.0 Array)   1459363_at (Mouse Genome 430 2.0 Array)   1460653_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000125647
Ensembl peptide - ENSMUSP00000124092
Ensembl peptide - ENSMUSP00000142984
Ensembl peptide - ENSMUSP00000153566
Ensembl peptide - ENSMUSP00000056715
Ensembl peptide - ENSMUSP00000123784
Ensembl peptide - ENSMUSP00000123833
Ensembl peptide - ENSMUSP00000124059
Ensembl peptide - ENSMUSP00000124070
NCBI entrez gene - 20239     See in Manteia.
MGI - MGI:1277223
RefSeq - XM_017320751
RefSeq - NM_009125
RefSeq - XM_006530228
RefSeq - XM_017320748
RefSeq - XM_017320749
RefSeq - XM_017320750
RefSeq Peptide - NP_033151
swissprot - F7B6X4
swissprot - A0A286YDU2
swissprot - A0A0G2JF15
swissprot - E9QM77
swissprot - F6U209
swissprot - F6U2C2
swissprot - F6U2Q5
swissprot - F6V8M6
swissprot - F6UTV7
Ensembl - ENSMUSG00000042605
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 atxn2ENSDARG00000052897Danio rerio
 ATXN2ENSGALG00000004625Gallus gallus
 ATXN2ENSG00000204842Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Atxn2l / Q7TQH0 / Mus musculus ataxin 2-like (Atxn2l), transcript variant 2, mRNA. / Q8WWM7* / ataxin 2 like*ENSMUSG0000003263732


Protein motifs (from Interpro)
Interpro ID Name
 IPR009604  LsmAD domain
 IPR009818  Ataxin-2, C-terminal
 IPR010920  LSM domain superfamily
 IPR025852  Ataxin 2, SM domain
 IPR033093  Ataxin-2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002091 negative regulation of receptor internalization IEA
 biological_processGO:0033962 cytoplasmic mRNA processing body assembly IEA
 biological_processGO:0034063 stress granule assembly IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005802 trans-Golgi network IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005844 polysome IEA
 cellular_componentGO:0010494 cytoplasmic stress granule IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0005154 epidermal growth factor receptor binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000010 abnormal abdominal fat pads "malformed or aberrant size of the encapsulated adipose tissue in the abdomen" [J:65146]
Show

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Atxn2tm2.1Geno/Atxn2tm2.1Geno
Genetic Background: B6.129S2-Atxn2tm2.1Geno

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
Show

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Aldh2tm1a(EUCOMM)Wtsi/Aldh2+,Fancd2tm1Hou/Fancd2tm1Hou
Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6N

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Dnmt1tm1Jrc/Dnmt1tm1Jrc
Genetic Background: involves: 129S1/Sv

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

Allelic Composition: Atxn2tm2.1Geno/Atxn2tm2.1Geno
Genetic Background: B6.129S2-Atxn2tm2.1Geno

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Dnmt1tm1Jrc/Dnmt1tm1Jrc
Genetic Background: involves: 129S1/Sv

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
Show

Allelic Composition: Dnmt1tm1Jrc/Dnmt1tm1Jrc
Genetic Background: involves: 129S1/Sv

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Dnmt1tm1Jrc/Dnmt1tm1Jrc
Genetic Background: involves: 129S1/Sv

 MP:0002079 increased circulating insulin level "greater than normal levels of insulin in blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Dnmt1tm1Jrc/Dnmt1tm1Jrc
Genetic Background: involves: 129S1/Sv

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002997 enlarged seminal gland "increased size, compared to the norm, of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0003058 increased insulin secretion "greater than normal release of this hormone secreted by beta cells of the pancreas, that promotes glucose utilization, protein synthesis, and the formation and storage of neutral lipids " [MeSH:National Library of Medicine - Medical Subject Headings, 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003645 increased number of pancreatic beta cells "greater than normal number of the cells of the pancreas that secrete insulin" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005415 intrahepatic cholestasis "impariment of bile flow due to injury to the hepatocytes, bile canaliculi, or the intrahepatic bile ducts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ap3b1pe-15J/Ap3b1pe-15J
Genetic Background: C3(SW)-H2b Ap3b1pe-15J/GrsrJ

 MP:0005455 increased weight gain "greater increase in body weight over existing weight when compared to the average increase in weight on the same diet, with equal energy (calorie) intake " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:42702]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005491 islet cell hyperplasia "increased numbers cells within the structures that are scattered throughout the pancreas and comprise its endocrine portion" [J:48446, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0009285 increased gonadal fat pad weight "greater than average weight of the encapsulated adipose tissue associated with the ovaries or testes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010400 increased liver glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Atxn2tm1.1Geno/Atxn2tm1.1Geno
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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