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Aliases for TFEC Gene

Aliases for TFEC Gene

  • Transcription Factor EC 2 3
  • 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. Among its related pathways are C-MYB transcription factor network. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription corepressor 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFEC Gene

Genomics for TFEC Gene

Regulatory Elements for TFEC Gene

Genomic Location for TFEC Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TFEC Gene at MOPED

Post-translational modifications for TFEC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TFEC Gene

No data available for DME Specific Peptides for TFEC Gene

Domains for TFEC Gene

Gene Families for TFEC Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for TFEC Gene

Graphical View of Domain Structure for InterPro Entry

O14948

UniProtKB/Swiss-Prot:

TFEC_HUMAN :
  • O14948
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
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:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 9256061
GO:0003713 transcription coactivator activity TAS 9256061
GO:0003714 transcription corepressor activity TAS 9256061
GO:0005515 protein binding IPI 25416956
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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TFEC

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for TFEC Gene

Localization for TFEC Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFEC Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TFEC Gene COMPARTMENTS Subcellular localization image for TFEC gene
Compartment Confidence
nucleus 5
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for TFEC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with TFEC: view

Pathways 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:0034605 cellular response to heat IEA --
GO:1903507 negative regulation of nucleic acid-templated transcription TAS 9256061
genes like me logo Genes that share ontologies with TFEC: view

Transcripts for TFEC Gene

Unigene Clusters for TFEC Gene

Transcription factor EC:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TFEC

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TFEC

Flow Cytometry 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 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 (5.3), Spleen (4.7), and Kidney - Cortex (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TFEC Gene

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.
genes like me logo Genes that share expressions with TFEC: view

In Situ Assay Products

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 35
  • 99.62 (n)
  • 99.42 (a)
TFEC 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TFEC 35
  • 89.7 (n)
  • 86.75 (a)
TFEC 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFEC 35
  • 90.39 (n)
  • 89.34 (a)
TFEC 36
  • 71 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfec 35
  • 80.76 (n)
  • 76.34 (a)
Tfec 16
Tfec 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 66 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia TFEC 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfec 35
  • 81.91 (n)
  • 78.55 (a)
chicken
(Gallus gallus)
Aves TFEC 35
  • 76.47 (n)
  • 72.94 (a)
TFEC 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFEC 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfec 35
  • 67.07 (n)
  • 65.06 (a)
zebrafish
(Danio rerio)
Actinopterygii tfec 35
  • 63.48 (n)
  • 65.53 (a)
tfec 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mitf 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-30 36
  • 20 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2830 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for TFEC:
  • 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

Selected 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 MAF
rs940507 -- 116,023,038(-) TGTTA(C/T)ATTAC intron-variant
rs940508 -- 115,986,629(-) TGCTG(A/G)GAATA intron-variant
rs1003252 -- 116,016,266(+) TTGGC(A/G)AGAAC intron-variant
rs1010151 -- 115,970,339(-) caagc(C/T)aatca intron-variant
rs1404245 -- 115,977,169(-) TGTTT(A/T)TTGTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7405 OTHER Inversion 18451855
nsv831103 CNV Loss 17160897
nsv442064 CNV CNV 18776908
esv2421737 CNV Deletion 20811451
esv2735057 CNV Deletion 23290073
nsv514444 CNV Loss 21397061
esv2657488 CNV Deletion 23128226
dgv1130n67 CNV Loss 20364138
nsv365487 CNV Loss 16902084

Relevant External Links for TFEC Gene

HapMap Linkage Disequilibrium report
TFEC

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

Disorders for TFEC Gene

(1) University of Copenhagen DISEASES for TFEC Gene

Relevant External Links for TFEC

Genetic Association Database (GAD)
TFEC
genes like me logo Genes that share disorders with TFEC: view

No data available for UniProtKB/Swiss-Prot 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 23
  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 23
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  4. 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
  5. Biology and clinical relevance of the micropthalmia family of transcription factors in human cancer. (PMID: 21670463) Haq R. … Fisher D.E. (J. Clin. Oncol. 2011) 3

Products for TFEC Gene

Sources for TFEC Gene

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