Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TFEC Gene

Aliases for TFEC Gene

  • Transcription Factor EC 2 3 5
  • Class E Basic Helix-Loop-Helix Protein 34 3 4
  • BHLHe34 3 4
  • HTFEC-L 3 4
  • TCFEC 3 4
  • TFE-C 3 4
  • TFECL 3 4
  • Transcription Factor EC-Like 4
  • TFEC-L 3

External Ids for TFEC Gene

Previous GeneCards Identifiers for TFEC Gene

  • GC07M114057
  • GC07M115120
  • GC07M115134
  • GC07M115173
  • GC07M115362
  • GC07M115575
  • GC07M109941

Summaries for TFEC Gene

Entrez Gene Summary for TFEC Gene

  • This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for TFEC Gene

TFEC (Transcription Factor EC) is a Protein Coding gene. Diseases associated with TFEC include Triple-Receptor Negative Breast Cancer. Among its related pathways are C-MYB transcription factor network. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is MITF.

UniProtKB/Swiss-Prot for TFEC Gene

  • Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity). Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity). Binds DNA in a homo- or heterodimeric form.

Gene Wiki entry for TFEC Gene

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

Genomics for TFEC Gene

Regulatory Elements for TFEC Gene

Enhancers for TFEC 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
GH07G116024 1 FANTOM5 Ensembl ENCODE 33.1 +132.9 132896 4.8 FOS TFEC TES LOC102724434 GC07P116118 GC07M115834 ENSG00000199224
GH07G116165 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.3 -6.2 -6198 1.4 PKNOX1 FEZF1 ZSCAN5C RELB IKZF2 CREM OVOL3 JUNB ZEB2 TBX21 TES TFEC
GH07G116209 1.7 Ensembl ENCODE dbSUPER 10.7 -54.9 -54865 10.0 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF548 ZNF263 SP3 NFYC ST7-AS1 TES TFEC LOC102724434 ENSG00000279086 GC07P116253
GH07G116580 1.7 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -422.7 -422678 3.8 PKNOX1 INSM2 BMI1 RAD21 CBX5 SCRT2 ZSCAN5C FOS RELB IKZF2 ENSG00000235427 TFEC ENSG00000237813 CAV2 CAV1 ENSG00000243220 LINC01510
GH07G116226 1.4 Ensembl ENCODE dbSUPER 11.6 -70.1 -70081 7.2 PKNOX1 KLF17 FEZF1 ZNF366 FOS ZNF362 ZEB2 SMARCB1 ZNF592 MAFF TFEC ENSG00000235427 TES LOC102724434 ENSG00000279086 GC07P116253
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TFEC on UCSC Golden Path with GeneCards custom track

Genomic Location for TFEC Gene

Chromosome:
7
Start:
115,935,148 bp from pter
End:
116,159,896 bp from pter
Size:
224,749 bases
Orientation:
Minus strand

Genomic View for TFEC Gene

Genes around TFEC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TFEC Gene

Proteins for TFEC Gene

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

    Protein Symbol:
    O14948-TFEC_HUMAN
    Recommended name:
    Transcription factor EC
    Protein Accession:
    O14948
    Secondary Accessions:
    • B2R8X5
    • Q5H9U8
    • Q709A4
    • Q8N6J9

    Protein attributes for TFEC Gene

    Size:
    347 amino acids
    Molecular mass:
    38788 Da
    Quaternary structure:
    • Homodimer. Forms heterodimers with TFE3. Forms heterodimers with MITF (By similarity). Interacts with MITF (By similarity).

    Alternative splice isoforms for TFEC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFEC Gene

Post-translational modifications for TFEC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TFEC Gene

Domains & Families for TFEC Gene

Gene Families for TFEC Gene

Protein Domains for TFEC Gene

Graphical View of Domain Structure for InterPro Entry

O14948

UniProtKB/Swiss-Prot:

TFEC_HUMAN :
  • Belongs to the MiT/TFE family.
Family:
  • Belongs to the MiT/TFE family.
genes like me logo Genes that share domains with TFEC: view

Function for TFEC Gene

Molecular function for TFEC Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as a transcriptional transactivator on the proximal promoter region of the tartrate-resistant acid phosphatase (TRAP) E-box containing promoter (By similarity). Collaborates with MITF in target gene activation (By similarity). Acts as a transcriptional repressor on minimal promoter containing mu E3 enhancer sequence (By similarity). Binds to mu E3 DNA sequence of the immunoglobulin heavy-chain gene enhancer (By similarity). Binds DNA in a homo- or heterodimeric form.

Gene Ontology (GO) - Molecular Function for TFEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 9256061
GO:0003713 transcription coactivator activity TAS 9256061
genes like me logo Genes that share ontologies with TFEC: view
genes like me logo Genes that share phenotypes with TFEC: view

Animal Models for TFEC Gene

MGI Knock Outs for TFEC:

Animal Model Products

Inhibitory RNA Products

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

Localization for TFEC Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFEC Gene

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 TFEC gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TFEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with TFEC: view

Pathways & Interactions for TFEC Gene

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

Pathways by source for TFEC Gene

1 BioSystems pathway for TFEC Gene

Gene Ontology (GO) - Biological Process for TFEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0034605 cellular response to heat IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with TFEC: view

No data available for SIGNOR curated interactions for TFEC Gene

Drugs & Compounds for TFEC Gene

No Compound Related Data Available

Transcripts for TFEC Gene

Unigene Clusters for TFEC Gene

Transcription factor EC:
Representative Sequences:

Inhibitory RNA Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8
SP1: -
SP2: -

Relevant External Links for TFEC Gene

GeneLoc Exon Structure for
TFEC
ECgene alternative splicing isoforms for
TFEC

Expression for TFEC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Lung (x5.3), Spleen (x4.7), and Kidney - Cortex (x4.2).

Protein differential expression in normal tissues from HIPED for TFEC Gene

This gene is overexpressed in Esophagus (69.0).

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



Protein tissue co-expression partners for TFEC Gene

NURSA nuclear receptor signaling pathways regulating expression of TFEC Gene:

TFEC

SOURCE GeneReport for Unigene cluster for TFEC Gene:

Hs.125962

mRNA Expression by UniProt/SwissProt for TFEC Gene:

O14948-TFEC_HUMAN
Tissue specificity: Expressed moderately in spleen, kidney, bone marrow, small intestine and leukocytes. Expressed weakly in testis, trachea and colon.

Evidence on tissue expression from TISSUES for TFEC Gene

  • Nervous system(4.1)
  • Kidney(2.5)
genes like me logo Genes that share expression patterns with TFEC: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for TFEC Gene

Orthologs for TFEC Gene

This gene was present in the common ancestor of animals.

Orthologs for TFEC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFEC 34 35
  • 99.62 (n)
dog
(Canis familiaris)
Mammalia TFEC 34 35
  • 90.39 (n)
cow
(Bos Taurus)
Mammalia TFEC 34 35
  • 89.7 (n)
rat
(Rattus norvegicus)
Mammalia Tfec 34
  • 81.91 (n)
mouse
(Mus musculus)
Mammalia Tfec 34 16 35
  • 80.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFEC 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 66 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves TFEC 34 35
  • 76.47 (n)
lizard
(Anolis carolinensis)
Reptilia TFEC 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfec 34
  • 67.07 (n)
zebrafish
(Danio rerio)
Actinopterygii tfec 34 35
  • 63.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mitf 35
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-30 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2830 34
Species where no ortholog for TFEC 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)
  • 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)

Evolution for TFEC Gene

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

Paralogs for TFEC Gene

Paralogs for TFEC Gene

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

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

Variants for TFEC Gene

Sequence variations from dbSNP and Humsavar for TFEC Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_037663 A colorectal cancer sample
rs1000019732 -- 116,029,819(+) TTGCT(C/G)GGAGG intron-variant
rs1000025190 -- 116,054,526(+) ATCCA(A/G)GGACT intron-variant
rs1000043038 -- 116,006,142(+) GAAGG(A/G)AAATG intron-variant
rs1000051500 -- 116,132,082(+) TCCAT(C/T)ATAAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1130n67 CNV loss 20364138
esv2421737 CNV deletion 20811451
esv2657488 CNV deletion 23128226
esv2735057 CNV deletion 23290073
esv3542315 CNV deletion 23714750
esv3572090 CNV loss 25503493
esv3614685 CNV loss 21293372
esv3614688 CNV loss 21293372
esv3614689 CNV gain 21293372
esv3891195 CNV gain 25118596
nsv1161602 CNV deletion 26073780
nsv365487 CNV deletion 16902084
nsv442064 CNV loss 18776908
nsv514444 CNV loss 21397061
nsv608239 CNV loss 21841781
nsv7405 OTHER inversion 18451855
nsv831103 CNV loss 17160897

Variation tolerance for TFEC Gene

Residual Variation Intolerance Score: 39.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.14; 51.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFEC Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFEC

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

Disorders for TFEC Gene

MalaCards: The human disease database

(1) MalaCards diseases for TFEC Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
triple-receptor negative breast cancer
- elite association - COSMIC cancer census association via MalaCards
Search TFEC in MalaCards View complete list of genes associated with diseases

Relevant External Links for TFEC

Genetic Association Database (GAD)
TFEC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFEC
genes like me logo Genes that share disorders with TFEC: view

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

Publications for TFEC Gene

  1. Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator. (PMID: 9256061) Yasumoto K. … Shibahara S. (Biochim. Biophys. Acta 1997) 2 3 4 22 64
  2. TFEC can function as a transcriptional activator of the nonmuscle myosin II heavy chain-A gene in transfected cells. (PMID: 11467950) Chung M.-C. … Kawamoto S. (Biochemistry 2001) 3 4 22 64
  3. Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. (PMID: 15118077) Kuiper R.P. … Geurts van Kessel A. (Nucleic Acids Res. 2004) 3 4 64
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for TFEC Gene

  • Addgene plasmids for TFEC

Sources for TFEC Gene

Content
Loading form....