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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

Entrez Gene Summary for TLE6 Gene

  • This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

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 1. Among its related pathways are Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. An important paralog of this gene is TLE1.

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.

Additional gene information for TLE6 Gene

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

Genomics for TLE6 Gene

GeneHancer (GH) Regulatory Elements for TLE6 Gene

Promoters and enhancers for TLE6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I002976 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 566.3 +0.3 253 2.1 HDGF PKNOX1 CLOCK MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 ZNF207 TLE6 GNA11 ZNF77 S1PR4 NCLN LOC101928631 ZNF57 SLC39A3 GC19P003016
GH19I002975 Enhancer 0.5 Ensembl 550.8 -1.7 -1714 0.2 ADNP CEBPA CEBPB RLF NFE2 EMSY TLE6 GNA11 ZNF77 S1PR4 NCLN LOC101928631 ZNF57 SLC39A3 GC19M002962
GH19I003059 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.7 +84.4 84438 4.8 HDGF PKNOX1 ATF1 SMAD1 MLX ZNF48 YY1 ETS1 ZNF121 ZNF766 AES TLE6 GNA11 GC19M003048
GH19I002968 Enhancer 1.4 FANTOM5 Ensembl ENCODE 15.8 -5.5 -5504 7 PKNOX1 FEZF1 TCF12 ZNF121 ZNF766 GLIS2 GATA2 E2F8 ATF7 ZNF263 GC19M002962 NCLN TLE6 TLE2 AES ZNF77 GNA11 LOC101928631 ZNF57 S1PR4
GH19I002819 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.2 -157.4 -157413 1.6 ARID4B SIN3A ZNF2 IRF4 YY1 ZNF766 CBX5 E2F8 ZNF207 ZNF143 ZNF554 GC19P002822 ZNF77 CACTIN-AS1 THOP1 CACTIN SF3A2 LOC100288123 SPPL2B ZNF556
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TLE6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TLE6 gene promoter:

Genomic Locations for TLE6 Gene

Genomic Locations for TLE6 Gene
chr19:2,977,415-2,995,184
(GRCh38/hg38)
Size:
17,770 bases
Orientation:
Plus strand
chr19:2,977,444-2,995,182
(GRCh37/hg19)

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

No Post-translational modifications

No data available for DME Specific Peptides for TLE6 Gene

Domains & Families for TLE6 Gene

Gene Families for TLE6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.
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.
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.

Gene Ontology (GO) - Molecular Function for TLE6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 26537248
genes like me logo Genes that share ontologies with TLE6: view

Phenotypes for TLE6 Gene

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

Human Phenotype Ontology for TLE6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005737 cytoplasm IEA --
GO:0043234 protein complex IMP 26537248
genes like me logo Genes that share ontologies with TLE6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLE6 Gene

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:0060136 embryonic process involved in female pregnancy IMP 26537248
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for TLE6 Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with TLE6: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TLE6 33 34
  • 99.07 (n)
dog
(Canis familiaris)
Mammalia TLE6 33 34
  • 70.89 (n)
cow
(Bos Taurus)
Mammalia LOC511478 33
  • 69.84 (n)
TLE6 34
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tle6 33
  • 65.01 (n)
mouse
(Mus musculus)
Mammalia Tle6 33 16 34
  • 64.53 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 17 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TLE6 34
  • 5 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 20 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:dkey-42p8.3 34
  • 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 Variation AA Info Type
rs767222404 pathogenic, Preimplantation embryonic lethality 1, Preimplantation embryonic lethality 1 (PREMBL1) [MIM:616814] 2,993,574(+) C/A/G coding_sequence_variant, missense_variant
rs776453307 pathogenic, Preimplantation embryonic lethality 1 2,989,674(+) C/ coding_sequence_variant, frameshift
rs1000060681 -- 2,977,833(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000080333 -- 2,985,228(+) C/T intron_variant
rs1000168507 -- 2,981,885(+) T/G genic_upstream_transcript_variant, 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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
preimplantation embryonic lethality 1
  • prembl1
- 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 1 (PREMBL1) [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. Inheritance is autosomal recessive. {ECO:0000269 PubMed:26537248}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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 AM … Alkuraya FS (Genome biology 2015) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The E2A-HLF oncoprotein activates Groucho-related genes and suppresses Runx1. (PMID: 11486032) Dang J … Look AT (Molecular and cellular biology 2001) 2 3 58
  5. The subcortical maternal complex: multiple functions for one biological structure? (PMID: 27525657) Bebbere D … Ledda S (Journal of assisted reproduction and genetics 2016) 3 58

Products for TLE6 Gene

Sources for TLE6 Gene

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