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Aliases for TLE6 Gene

Aliases for TLE6 Gene

  • Transducin Like Enhancer Of Split 6 2 3 5
  • Transducin-Like Enhancer Of Split 6 (E(Sp1) Homolog, Drosophila) 2 3
  • Transducin-Like Enhancer Protein 6 3
  • PREMBL 3
  • GRG6 3

External Ids for TLE6 Gene

Previous GeneCards Identifiers for TLE6 Gene

  • GC19P002930
  • GC19P002745

Summaries for TLE6 Gene

GeneCards Summary for TLE6 Gene

TLE6 (Transducin Like Enhancer Of Split 6) is a Protein Coding gene. Diseases associated with TLE6 include Preimplantation Embryonic Lethality. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/PCP Signaling Pathways. An important paralog of this gene is TLE2.

UniProtKB/Swiss-Prot for TLE6 Gene

  • As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TLE6 Gene

Genomics for TLE6 Gene

Regulatory Elements for TLE6 Gene

Enhancers for TLE6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TLE6 on UCSC Golden Path with GeneCards custom track

Promoters for TLE6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TLE6 Gene

Chromosome:
19
Start:
2,977,415 bp from pter
End:
2,995,184 bp from pter
Size:
17,770 bases
Orientation:
Plus strand

Genomic View for TLE6 Gene

Genes around TLE6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLE6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLE6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLE6 Gene

Proteins for TLE6 Gene

  • Protein details for TLE6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H808-TLE6_HUMAN
    Recommended name:
    Transducin-like enhancer protein 6
    Protein Accession:
    Q9H808
    Secondary Accessions:
    • J3KMZ1

    Protein attributes for TLE6 Gene

    Size:
    572 amino acids
    Molecular mass:
    63473 Da
    Quaternary structure:
    • Component of the SCMC which also includes at least KHDC3L, NLRP5 and OOEP.
    SequenceCaution:
    • Sequence=AAH20206.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TLE6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLE6 Gene

Post-translational modifications for TLE6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TLE6 Gene

No data available for DME Specific Peptides for TLE6 Gene

Domains & Families for TLE6 Gene

Gene Families for TLE6 Gene

Suggested Antigen Peptide Sequences for TLE6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H808

UniProtKB/Swiss-Prot:

TLE6_HUMAN :
  • Contrary to other WD repeat Groucho/TLE family members, does not contain any identifiable Q, GP, CcN or SP domains. Only the C-terminal WD-repeat domain is conserved.
  • Belongs to the WD repeat Groucho/TLE family.
  • Contains 7 WD repeats.
Domain:
  • Contrary to other WD repeat Groucho/TLE family members, does not contain any identifiable Q, GP, CcN or SP domains. Only the C-terminal WD-repeat domain is conserved.
Family:
  • Belongs to the WD repeat Groucho/TLE family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with TLE6: view

Function for TLE6 Gene

Molecular function for TLE6 Gene

UniProtKB/Swiss-Prot Function:
As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions.

Phenotypes for TLE6 Gene

genes like me logo Genes that share phenotypes with TLE6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TLE6 Gene

Localization for TLE6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLE6 Gene

Cytoplasm. Note=In the subcortical cytoplasm of early embryos from the 1-cell to the blastocyst stages. From the 2-cell stage, still detected in the subcortex, but excluded from cell-cell contact regions (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TLE6 Gene COMPARTMENTS Subcellular localization image for TLE6 gene
Compartment Confidence
nucleus 4
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TLE6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005938 cell cortex IEA --
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with TLE6: view

Pathways & Interactions for TLE6 Gene

genes like me logo Genes that share pathways with TLE6: view

Pathways by source for TLE6 Gene

Gene Ontology (GO) - Biological Process for TLE6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0045666 positive regulation of neuron differentiation IEA --
GO:0050769 positive regulation of neurogenesis IEA --
genes like me logo Genes that share ontologies with TLE6: view

No data available for SIGNOR curated interactions for TLE6 Gene

Drugs & Compounds for TLE6 Gene

No Compound Related Data Available

Transcripts for TLE6 Gene

Unigene Clusters for TLE6 Gene

Transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TLE6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^
SP1: -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP6:
SP7: -
SP8:
SP9: -

ExUns: 16 ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for TLE6 Gene

GeneLoc Exon Structure for
TLE6
ECgene alternative splicing isoforms for
TLE6

Expression for TLE6 Gene

mRNA expression in normal human tissues for TLE6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TLE6 Gene

This gene is overexpressed in Thyroid (x4.3).

NURSA nuclear receptor signaling pathways regulating expression of TLE6 Gene:

TLE6

SOURCE GeneReport for Unigene cluster for TLE6 Gene:

Hs.334507
genes like me logo Genes that share expression patterns with TLE6: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TLE6 Gene

Orthologs for TLE6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TLE6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC511478 34
  • 69.84 (n)
  • 58.1 (a)
TLE6 35
  • 58 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TLE6 34
  • 70.89 (n)
  • 61.27 (a)
TLE6 35
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tle6 34
  • 64.53 (n)
  • 52.75 (a)
Tle6 16
Tle6 35
  • 44 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TLE6 34
  • 99.07 (n)
  • 98.6 (a)
TLE6 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tle6 34
  • 65.01 (n)
  • 53.79 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 17 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TLE6 35
  • 5 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 20 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-42p8.3 35
  • 17 (a)
ManyToMany
Species where no ortholog for TLE6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TLE6 Gene

ENSEMBL:
Gene Tree for TLE6 (if available)
TreeFam:
Gene Tree for TLE6 (if available)

Paralogs for TLE6 Gene

Paralogs for TLE6 Gene

(3) SIMAP similar genes for TLE6 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TLE6: view

Variants for TLE6 Gene

Sequence variations from dbSNP and Humsavar for TLE6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs10425071 -- 2,991,717(+) CACTC(C/T)GTGCA intron-variant
rs10425323 -- 2,983,987(+) CCCCA(C/T)TGCAG intron-variant, upstream-variant-2KB
rs10425696 -- 2,978,867(+) GAGAT(A/G)ACCAT intron-variant
rs3746074 -- 2,989,361(+) ACAGG(C/G)GGTTT intron-variant
rs3746075 -- 2,989,382(+) TCTGG(C/G)AGAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TLE6 Gene

Variant ID Type Subtype PubMed ID
dgv47n68 CNV loss 17160897
esv3643450 CNV loss 21293372
esv3643451 CNV loss 21293372
nsv1123209 CNV deletion 24896259
nsv1134742 CNV deletion 24896259
nsv833709 CNV loss 17160897

Variation tolerance for TLE6 Gene

Residual Variation Intolerance Score: 52.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TLE6 Gene

Human Gene Mutation Database (HGMD)
TLE6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLE6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TLE6 Gene

Disorders for TLE6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TLE6 Gene - From: ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
preimplantation embryonic lethality
  • prembl
- elite association - COSMIC cancer census association via MalaCards
Search TLE6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TLE6_HUMAN
  • Preimplantation embryonic lethality (PREMBL) [MIM:616814]: A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TLE6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TLE6
genes like me logo Genes that share disorders with TLE6: view

No data available for Genatlas for TLE6 Gene

Publications for TLE6 Gene

  1. TLE6 mutation causes the earliest known human embryonic lethality. (PMID: 26537248) Alazami A.M. … Alkuraya F.S. (Genome Biol. 2015) 3 4 65
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  4. The E2A-HLF oncoprotein activates Groucho-related genes and suppresses Runx1. (PMID: 11486032) Dang J. … Look A.T. (Mol. Cell. Biol. 2001) 2 3 65
  5. Transcription factors FOXG1 and Groucho/TLE promote glioblastoma growth. (PMID: 24356439) Verginelli F. … Stifani S. (Nat Commun 2013) 3 65

Products for TLE6 Gene

Sources for TLE6 Gene

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