ENSMUSG00000054452


Mus musculus

Features
Gene ID: ENSMUSG00000054452
  
Biological name :Aes
  
Synonyms : Aes / Amino-terminal enhancer of split / P63002
  
Possible biological names infered from orthology : Q08117
  
Species: Mus musculus
  
Chr. number: 10
Strand: 1
Band: C1
Gene start: 81559488
Gene end: 81566362
  
Corresponding Affymetrix probe sets: 10365136 (MoGene1.0st)   1420619_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000002518
Ensembl peptide - ENSMUSP00000151523
NCBI entrez gene - 14797     See in Manteia.
MGI - MGI:95806
RefSeq - NM_001276288
RefSeq - NM_010347
RefSeq Peptide - NP_001263217
RefSeq Peptide - NP_034477
swissprot - Q3TYD9
swissprot - P63002
swissprot - A0A1W2P757
Ensembl - ENSMUSG00000054452
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 aesENSDARG00000021805Danio rerio
 chicoENSDARG00000019588Danio rerio
 AESENSGALG00000029503Gallus gallus
 AESENSG00000104964Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tle4 / Q62441 / Transducin-like enhancer protein 4 / Q04727* / transducin like enhancer of split 4*ENSMUSG0000002464270
Tle1 / Q62440 / Transducin-like enhancer protein 1 / Q04724* / transducin like enhancer of split 1*ENSMUSG0000000830565
Tle3 / Q08122 / transducin-like enhancer of split 3 / Q04726*ENSMUSG0000003228063
Tle2 / Q9WVB2 / transducin-like enhancer of split 2 / Q04725*ENSMUSG0000003477159
Tle6 / Q9WVB3 / transducin-like enhancer of split 6 / Q9H808*ENSMUSG0000003475810
Gm21964 / transducin like enhancer of split family member 7 / TLE7*ENSMUSG000000959417


Protein motifs (from Interpro)
Interpro ID Name
 IPR005617  Groucho/TLE, N-terminal Q-rich domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001501 skeletal system development IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IGI
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0016055 Wnt signaling pathway IEA
 biological_processGO:0031668 cellular response to extracellular stimulus IDA
 biological_processGO:0032091 negative regulation of protein binding IEA
 biological_processGO:0040008 regulation of growth IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0060761 negative regulation of response to cytokine stimulus IEA
 biological_processGO:0070555 response to interleukin-1 IEA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IEA
 biological_processGO:2000210 positive regulation of anoikis IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm TAS
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000084 abnormal fontanelle morphology "structural defect in the membranous interval at the margins of cranial bones in neonates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000165 abnormal hypertrophic chondrocyte zone "anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0000633 abnormal pituitary gland morphology "anomalous structure of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Myd88tm1Aki/Myd88tm1Aki
Genetic Background: Not Specified

 MP:0000636 enlarged pituitary gland "increased size of pituitary gland" [J:50053]
Show

Allelic Composition: Myd88tm1Aki/Myd88tm1Aki
Genetic Background: Not Specified

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

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001272 increased metastatic potential 
Show

Allelic Composition: Aestm1.1Mmt/Aestm1.1Mmt,Apctm1Mmt/Apc+,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA * SJL

 MP:0001377 abnormal copulation "reduced or absent attempt of sexual contact between a male and a receptive female " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Myd88tm1Aki/Myd88tm1Aki
Genetic Background: Not Specified

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Myd88tm1Aki/Myd88tm1Aki
Genetic Background: Not Specified

Allelic Composition: Aestm1Grid/Aestm1Grid,Notch1tm1Grid/Notch1+
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Myd88tm1Aki/Myd88tm1Aki
Genetic Background: Not Specified

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rag1tm1Mom/Rag1tm1Mom
Genetic Background: B6.129S7-Rag1tm1Mom

 MP:0003409 decreased width of hypertrophic chondrocyte zone "decreased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003817 abnormal Rathke s pouch "malformation or incomplete differentiation of a pouch of ectoderm that grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:51160]
Show

Allelic Composition: Myd88tm1Aki/Myd88tm1Aki
Genetic Background: Not Specified

 MP:0004337 clavicle hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of one or both of the doubly curved long bone that forms part of the shoulder girdle and articulates with the sternum and the scapula" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0006396 decreased long bone epiphyseal plate size "reduced size of the cartilaginous center of ossification on the long bones permitting growth of the bone in both directions during development" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aestm1Grid/Aestm1Grid,Runx2tm1Mjo/Runx2+
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0009309 small intestine adenocarcinoma "malignant neoplasm of epithelial cells in the small intestine" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aestm1.1Mmt/Aestm1.1Mmt,Apctm1Mmt/Apc+,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA * SJL

 MP:0009314 colon adenocarcinoma "malignant neoplasm of epithelial cells in the colon" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Aestm1.1Mmt/Aestm1.1Mmt,Apctm1Mmt/Apc+,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA * SJL

 MP:0013342 bifurcated Rathke s pouch "the appearance of an abnormal division in the diverticulum arsing from the embryonic buccal cavity from which the anterior lobe of the pituitary gland is developed " [MGI:Anna, PMID:19074474]
Show

Allelic Composition: Myd88tm1Aki/Myd88tm1Aki
Genetic Background: Not Specified

  


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






 

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