ENSG00000104953


Homo sapiens

Features
Gene ID: ENSG00000104953
  
Biological name :TLE6
  
Synonyms : Q9H808 / TLE6 / transducin like enhancer of split 6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.3
Gene start: 2977446
Gene end: 2995184
  
Corresponding Affymetrix probe sets: 1553812_at (Human Genome U133 Plus 2.0 Array)   1553813_s_at (Human Genome U133 Plus 2.0 Array)   222219_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000467126
Ensembl peptide - ENSP00000246112
Ensembl peptide - ENSP00000406893
Ensembl peptide - ENSP00000411783
NCBI entrez gene - 79816     See in Manteia.
OMIM - 612399
RefSeq - XM_011528306
RefSeq - NM_001143986
RefSeq - NM_024760
RefSeq - XM_005259645
RefSeq - XM_011528300
RefSeq - XM_011528301
RefSeq Peptide - NP_001137458
RefSeq Peptide - NP_079036
swissprot - K7ENW8
swissprot - Q9H808
swissprot - C9J532
Ensembl - ENSG00000104953
  
Related genetic diseases (OMIM): 616814 - Preimplantation embryonic lethality, 616814
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Tle6ENSMUSG00000034758Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TLE1 / Q04724 / transducin like enhancer of split 1ENSG0000019678126
TLE2 / Q04725 / transducin like enhancer of split 2ENSG0000006571726
TLE4 / Q04727 / transducin like enhancer of split 4ENSG0000010682926
TLE3 / Q04726 / transducin like enhancer of split 3ENSG0000014033225
TLE7 / transducin like enhancer of split family member 7ENSG0000026073423
AES / Q08117 / amino-terminal enhancer of splitENSG000001049644


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR009146  Groucho/transducin-like enhancer
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0060136 embryonic process involved in female pregnancy IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0032991 protein-containing complex IMP
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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