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Aliases for TEF Gene

Aliases for TEF Gene

  • TEF, PAR BZIP Transcription Factor 2 3 5
  • Thyrotrophic Embryonic Factor 2
  • KIAA1655 4

External Ids for TEF Gene

Previous GeneCards Identifiers for TEF Gene

  • GC22P038392
  • GC22P040006
  • GC22P040021
  • GC22P040102
  • GC22P041763
  • GC22P024729

Summaries for TEF Gene

Entrez Gene Summary for TEF Gene

  • This gene encodes a member of the PAR (proline and acidic amino acid-rich) subfamily of basic region/leucine zipper (bZIP) transcription factors. It is expressed in a broad range of cells and tissues in adult animals, however, during embryonic development, TEF expression appears to be restricted to the developing anterior pituitary gland, coincident with the appearance of thyroid-stimulating hormone, beta (TSHB). Indeed, TEF can bind to, and transactivate the TSHB promoter. It shows homology (in the functional domains) with other members of the PAR-bZIP subfamily of transcription factors, which include albumin D box-binding protein (DBP), human hepatic leukemia factor (HLF) and chicken vitellogenin gene-binding protein (VBP); VBP is considered the chicken homologue of TEF. Different members of the subfamily can readily form heterodimers, and share DNA-binding, and transcriptional regulatory properties. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for TEF Gene

TEF (TEF, PAR BZIP Transcription Factor) is a Protein Coding gene. Diseases associated with TEF include Esophageal Atresia/Tracheoesophageal Fistula and Tracheomalacia. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HLF.

UniProtKB/Swiss-Prot for TEF Gene

  • Transcription factor that binds to and transactivates the TSHB promoter. Binds to a minimal DNA-binding sequence 5-[TC][AG][AG]TTA[TC][AG]-3.

Gene Wiki entry for TEF Gene

Additional gene information for TEF Gene

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

Genomics for TEF Gene

GeneHancer (GH) Regulatory Elements for TEF Gene

Promoters and enhancers for TEF 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
GH22I041379 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.4 +14.6 14630 4 HDGF PKNOX1 CLOCK FOXA2 MLX ARID4B SIN3A YY1 ZNF213 FOS LOC105373042 TEF MEI1 POLR3H PMM1 FAM109B XPNPEP3 SMDT1 CSDC2 PIR38134
GH22I041366 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.9 898 3.7 HDGF PKNOX1 CLOCK SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 YY1 LOC100996598 TEF L3MBTL2 TCF20 EP300 MEI1 LOC100506544 GC22P041361
GH22I041444 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.3 +79.4 79383 5.9 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 TOB2 LOC105373043 L3MBTL2 ZC3H7B PHF5A EP300 SLC25A17 POLR3H NDUFA6-AS1 XRCC6
GH22I041284 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.8 -79.0 -79012 8.1 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 RANGAP1 EP300 ENSG00000272834 ENSG00000232754 ENSG00000227413 XRCC6 L3MBTL2 NAGA EP300-AS1 ZC3H7B
GH22I041300 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.5 -64.4 -64395 4.4 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 ZNF213 ZNF143 KLF7 GC22P041304 RANGAP1 ZC3H7B LOC100506544 MEI1 TEF CYP2D7 SGSM3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TEF on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for TEF Gene

Genomic Locations for TEF Gene
chr22:41,367,333-41,399,328
(GRCh38/hg38)
Size:
31,996 bases
Orientation:
Plus strand
chr22:41,763,337-41,795,330
(GRCh37/hg19)

Genomic View for TEF Gene

Genes around TEF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TEF Gene

Proteins for TEF Gene

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

    Protein Symbol:
    Q10587-TEF_HUMAN
    Recommended name:
    Thyrotroph embryonic factor
    Protein Accession:
    Q10587
    Secondary Accessions:
    • B0QYS8
    • B2RC22
    • Q15729
    • Q7Z3J7
    • Q8IU94
    • Q96TG4

    Protein attributes for TEF Gene

    Size:
    303 amino acids
    Molecular mass:
    33248 Da
    Quaternary structure:
    • Binds DNA as a homodimer or a heterodimer. Can form a heterodimer with DBP.
    SequenceCaution:
    • Sequence=AAA81373.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TEF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TEF Gene

Post-translational modifications for TEF Gene

No Post-translational modifications

Other Protein References for TEF Gene

No data available for DME Specific Peptides for TEF Gene

Domains & Families for TEF Gene

Gene Families for TEF Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TEF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TEF Gene

Graphical View of Domain Structure for InterPro Entry

Q10587

UniProtKB/Swiss-Prot:

TEF_HUMAN :
  • Belongs to the bZIP family. PAR subfamily.
Family:
  • Belongs to the bZIP family. PAR subfamily.
genes like me logo Genes that share domains with TEF: view

Function for TEF Gene

Molecular function for TEF Gene

GENATLAS Biochemistry:
thyrotroph embryonic factor,accumulating in liver and kidney,according to a robust circadian rythm
UniProtKB/Swiss-Prot Function:
Transcription factor that binds to and transactivates the TSHB promoter. Binds to a minimal DNA-binding sequence 5-[TC][AG][AG]TTA[TC][AG]-3.
UniProtKB/Swiss-Prot Induction:
Accumulates according to a robust circadian rhythm.

Phenotypes From GWAS Catalog for TEF Gene

Gene Ontology (GO) - Molecular Function for TEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with TEF: view
genes like me logo Genes that share phenotypes with TEF: view

Animal Models for TEF Gene

MGI Knock Outs for TEF:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TEF Gene

Localization for TEF Gene

Subcellular locations from UniProtKB/Swiss-Prot for TEF Gene

Nucleus.

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 TEF gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for TEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IEA --
genes like me logo Genes that share ontologies with TEF: view

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

Pathways & Interactions for TEF Gene

No Data Available

Gene Ontology (GO) - Biological Process for TEF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS,IEA 7835883
GO:0006366 transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with TEF: view

No data available for Pathways by source and SIGNOR curated interactions for TEF Gene

Drugs & Compounds for TEF Gene

(1) Drugs for TEF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TEF: view

Transcripts for TEF Gene

Unigene Clusters for TEF Gene

Thyrotrophic embryonic factor:
Representative Sequences:

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c
SP1: - - - -
SP2: - -
SP3: - -
SP4: -
SP5:

Relevant External Links for TEF Gene

GeneLoc Exon Structure for
TEF
ECgene alternative splicing isoforms for
TEF

Expression for TEF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TEF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TEF Gene

This gene is overexpressed in Heart (62.0) and CD8 Tcells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TEF Gene



Protein tissue co-expression partners for TEF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TEF Gene:

TEF

SOURCE GeneReport for Unigene cluster for TEF Gene:

Hs.181159

Evidence on tissue expression from TISSUES for TEF Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Eye(4.2)
  • Muscle(2.5)
  • Lung(2.4)
  • Heart(2.1)
  • Thyroid gland(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with TEF: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TEF Gene

Orthologs for TEF Gene

This gene was present in the common ancestor of animals.

Orthologs for TEF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TEF 33 34
  • 99.89 (n)
cow
(Bos Taurus)
Mammalia TEF 33 34
  • 92.72 (n)
dog
(Canis familiaris)
Mammalia TEF 33 34
  • 92.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TEF 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tef 33 16 34
  • 91.14 (n)
rat
(Rattus norvegicus)
Mammalia Tef 33
  • 90.7 (n)
oppossum
(Monodelphis domestica)
Mammalia TEF 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves TEF 33 34
  • 76.58 (n)
lizard
(Anolis carolinensis)
Reptilia TEF 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tef 33
  • 66.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia tef-prov 33
zebrafish
(Danio rerio)
Actinopterygii tefb 33 34
  • 63.45 (n)
tefa 34
  • 55 (a)
OneToMany
tef 33
fruit fly
(Drosophila melanogaster)
Insecta Pdp1 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6834 34
  • 10 (a)
OneToMany
Species where no ortholog for TEF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TEF Gene

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

Paralogs for TEF Gene

Paralogs for TEF Gene

(2) SIMAP similar genes for TEF Gene using alignment to 4 proteins:

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

Variants for TEF Gene

Sequence variations from dbSNP and Humsavar for TEF Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000049537 -- 41,389,638(+) T/G intron_variant
rs1000124450 -- 41,370,211(+) TT/T genic_upstream_transcript_variant, intron_variant
rs1000168429 -- 41,366,400(+) C/G upstream_transcript_variant
rs1000275310 -- 41,370,097(+) TTTCTTTT/TTT genic_upstream_transcript_variant, intron_variant
rs1000343381 -- 41,384,157(+) T/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv3647796 CNV loss 21293372
nsv459888 CNV gain 19166990
nsv516925 CNV loss 19592680
nsv524585 CNV loss 19592680
nsv589050 CNV gain 21841781
nsv834207 CNV loss 17160897
nsv834208 CNV loss 17160897

Variation tolerance for TEF Gene

Residual Variation Intolerance Score: 23.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TEF Gene

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

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

Disorders for TEF Gene

MalaCards: The human disease database

(20) MalaCards diseases for TEF Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
esophageal atresia/tracheoesophageal fistula
  • esophageal atresia with or without tracheoesophageal fistula
tracheomalacia
  • congenital tracheomalacia
tracheal disease
  • tracheal disorders
dyskinesia of esophagus
  • dyskinesia of oesophagus
esophageal disease
  • esophageal ulcer
- elite association - COSMIC cancer census association via MalaCards
Search TEF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TEF

genes like me logo Genes that share disorders with TEF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TEF Gene

Publications for TEF Gene

  1. Chromosomal localization and cDNA cloning of the human DBP and TEF genes. (PMID: 7835883) Khatib ZA … Look AT (Genomics 1994) 2 3 4 22 58
  2. The proto-oncogene HLF and the related basic leucine zipper protein TEF display highly similar DNA-binding and transcriptional regulatory properties. (PMID: 8639829) Hunger SP … Cleary ML (Blood 1996) 3 4 22 58
  3. TEF, an antiapoptotic bZIP transcription factor related to the oncogenic E2A-HLF chimera, inhibits cell growth by down-regulating expression of the common beta chain of cytokine receptors. (PMID: 15665112) Inukai T … Nakazawa S (Blood 2005) 2 3 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 58

Products for TEF Gene

Sources for TEF Gene

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