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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TFEC Gene

protein-coding   GIFtS: 58
GCID: GC07M115575

Transcription Factor EC

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transcription Factor EC1 2     bHLHe342 3
Class E Basic Helix-Loop-Helix Protein 342 3     hTFEC-L2 3
TCFEC2 3     TFEC-L2
TFE-C2 3     BHLHE343
TFECL2 3     Transcription Factor EC-Like3

External Ids:    HGNC: 117541   Entrez Gene: 227972   Ensembl: ENSG000001059677   OMIM: 6047325   UniProtKB: O149483   

Export aliases for TFEC gene to outside databases

Previous GC identifers: GC07M114057 GC07M115120 GC07M115134 GC07M115173 GC07M115362 GC07M109941


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pycnodysostosis, and waardenburg's syndrome. GO annotations related to this gene include transcription corepressor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MITF.

UniProtKB/Swiss-Prot: TFEC_HUMAN, O14948
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 Wiki entry for TFEC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TFEC gene promoter:
         RFX1   FOXF2   LCR-F1   Evi-1   PPAR-gamma1   Ik-2   FOXJ2 (long isoform)   PPAR-gamma2   FOXJ2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TFEC promoter sequence
   Search SABiosciences Chromatin IP Primers for TFEC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TFEC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.2   Ensembl cytogenetic band:  7q31.2   HGNC cytogenetic band: 7q31.2

TFEC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFEC gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M115575:  view genomic region     (about GC identifiers)

Start:
115,575,202 bp from pter      End:
115,799,950 bp from pter
Size:
224,749 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 114,970,614-115,066,207     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TFEC_HUMAN, O14948 (See protein sequence)
Recommended Name: Transcription factor EC  
Size: 347 amino acids; 38788 Da
Subunit: Homodimer. Forms heterodimers with TFE3. Forms heterodimers with MITF (By similarity). Interacts with
MITF (By similarity)
Subcellular location: Nucleus
Secondary accessions: B2R8X5 Q5H9U8 Q709A4 Q8N6J9
Alternative splicing: 4 isoforms:  O14948-1   O14948-2   O14948-3   O14948-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TFEC: NX_O14948

Explore proteomics data for TFEC at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14948

  • TFEC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TFEC Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001018068.1  NP_001231512.1  NP_036384.1  

    ENSEMBL proteins: 
     ENSP00000265440   ENSP00000318676   ENSP00000377125   ENSP00000417432   ENSP00000387650  

    Human Recombinant Protein Products for TFEC: 
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    Novus Biologicals TFEC Proteins
    Novus Biologicals TFEC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TFEC 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    TFEC for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    4 InterPro protein domains:
     IPR011598 bHLH_dom
     IPR024101 TFEC
     IPR024097 bHLH_ZIP_TF
     IPR021802 bHLH_ZIP_TF_MiT/TFE

    Graphical View of Domain Structure for InterPro Entry O14948

    ProtoNet protein and cluster: O14948

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: TFEC_HUMAN, O14948
    Similarity: Belongs to the MiT/TFE family
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    TFEC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TFEC_HUMAN, O14948
    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): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9256061
    GO:0003713transcription coactivator activity TAS9256061
    GO:0003714transcription corepressor activity TAS9256061
    GO:0046983protein dimerization activity IEA--
         
    TFEC for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for TFEC:
     High actin ratio cells  Increased homologous recombina 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tfec):
     integument  normal  pigmentation  skeleton  vision/eye 

    TFEC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tfectm1Est for TFEC

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TFEC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TFEC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TFEC 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TFEC 

    miRNA
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    8/60 QIAGEN miScript miRNA Assays for microRNAs that regulate TFEC (see all 60):
    hsa-miR-579 hsa-miR-4307 hsa-miR-607 hsa-miR-188-5p hsa-miR-429 hsa-miR-548k hsa-miR-15a hsa-miR-139-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): TFEC (NM_012252)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFEC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFEC
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                         Customized lentivirus expression plasmids for stable overexpression of TFEC 

    Cell Line
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    Search LifeMap BioReagents cell lines for TFEC
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFEC


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TFEC About                                                                                                See pathways by source

    SuperPathContained pathways About
    1C-MYB transcription factor network
    C-MYB transcription factor network


    1 BioSystems Pathway for TFEC
        C-MYB transcription factor network


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TFEC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for TFEC (O149483 ENSP000002654404) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MITFO750303, ENSP000002956004I2D: score=2 STRING: ENSP00000295600
    TFEBP194843, ENSP000002303234I2D: score=1 STRING: ENSP00000230323
    TFE3P195323, ENSP000003141294I2D: score=3 STRING: ENSP00000314129
    MYBENSP000003399924STRING: ENSP00000339992
    DCKENSP000002866484STRING: ENSP00000286648
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0034605cellular response to heat IEA--

    TFEC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TFEC

    Search CenterWatch for drugs/clinical trials and news about TFEC

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TFEC gene (3 alternative transcripts): 
    NM_001018058.2  NM_001244583.1  NM_012252.3  

    Unigene Cluster for TFEC:

    Transcription factor EC
    Hs.125962  [show with all ESTs]
    Unigene Representative Sequence: NM_012252
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265440(uc003vhj.2) ENST00000320239(uc003vhk.2) ENST00000462828
    ENST00000393485(uc003vhl.4 uc011kmw.2) ENST00000484212 ENST00000497829
    ENST00000474337 ENST00000465322 ENST00000457268(uc003vhm.2)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFEC
    8/60 QIAGEN miScript miRNA Assays for microRNAs that regulate TFEC (see all 60):
    hsa-miR-579 hsa-miR-4307 hsa-miR-607 hsa-miR-188-5p hsa-miR-429 hsa-miR-548k hsa-miR-15a hsa-miR-139-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TFEC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFEC
    Clone
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    OriGene clones in human, mouse for TFEC (see all 13)
    OriGene ORF clones in mouse, rat for TFEC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TFEC (NM_012252)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TFEC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFEC
    Sirion Biotech Customized lentivirus for stable overexpression of TFEC 
                         Customized lentivirus expression plasmids for stable overexpression of TFEC 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for TFEC
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TFEC
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TFEC
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TFEC

    Additional mRNA sequence: 

    AJ608795.1 AK301479.1 AK313546.1 AL110232.1 BX538223.1 CR933605.1 D43945.1 

    7 DOTS entries:

    DT.100748137  DT.40212288  DT.100748136  DT.121115073  DT.95251219  DT.95260856  DT.100748138 

    24/55 AceView cDNA sequences (see all 55):

    BC029891 AI433832 D43945 AI522280 AW612008 NM_012252 BM855757 AW148458 
    CD368984 CR592534 BX538223 AJ608795 BE221714 AI627398 BM146803 AI671113 
    AV717493 BF795548 AL700185 AV712379 AW779818 BG429252 AL110232 CB986189 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TFEC    About this scheme

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


    ECgene alternative splicing isoforms for TFEC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TFEC expression in normal human tissues (normalized intensities)      TFEC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTAAAGTTC
    TFEC Expression
    About this image


    TFEC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Blood (Hematopoietic System)
             monocyte-derived dendritic cells   
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Endothelium (Cardiovascular System)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Bone (Muscoskeletal System)
             Zeugopod Periosteum

    See TFEC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TFEC

    SOURCE GeneReport for Unigene cluster: Hs.125962

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

        SABiosciences Custom PCR Arrays for TFEC
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFEC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TFEC gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfec1 , 5 transcription factor EC1, 5 80.97(n)1
    76.66(a)1
      6 (7.61 cM)5
    214261  NM_031198.31  NP_112475.11 
     168333815 
    chicken
    (Gallus gallus)
    Aves TFEC1 transcription factor EC 76.47(n)
    72.94(a)
      417773  NM_001006229.1  NP_001006229.1 
    lizard
    (Anolis carolinensis)
    Reptilia TFEC6
    transcription factor EC
    75(a)
    1 ↔ 1
    5(60452344-60575950)
    zebrafish
    (Danio rerio)
    Actinopterygii tfec1 transcription factor EC 62.59(n)
    63.95(a)
      556894  NM_001030105.2  NP_001025276.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mitf6
    Mitf
    12(a)
    1 → many
    4(1219484-1228244)
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-306
    Protein HLH-30, isoform b
    18(a)
    1 → many
    IV(4015486-4028129)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TFEC gene
    MITF2  TFE32  TFEB2  
    3 SIMAP similar genes for TFEC using alignment to 4 protein entries:     TFEC_HUMAN (see all proteins):
    MITF    TFEB    TFE3

    TFEC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1686 SNPs in TFEC are shown (see all 1686)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0376634
    A colorectal cancer sample4--see VAR_0376632 L V mis40--------
    rs2006269991,2
    C--114980589(+) TCAAA-/CTAAAA 3 -- int10--------
    rs671431821,2
    C--114980617(-) ATCTG-/A/AA  
            
    AAAAA
    3 -- int11NA 2
    rs352819001,2
    C--114985480(+) TTTTT-/TTGAGAT 3 -- int10--------
    rs2009201431,2
    C--115009887(+) TATAT-/ATATATATATATAT
    ATATATATATATATAA
    AAACA
    2 -- int10--------
    rs1395650141,2
    C--115010053(+) ATCAG-/TATC  
            
    TACAT
    2 -- int10--------
    rs1405281991,2
    C--115016233(+) AAAAA-/ACAAAA 2 -- int10--------
    rs785982741,2
    C--115017297(+) GGAGG-/TTAAAG 2 -- int10--------
    rs1379028591,2
    C--115020485(+) TAGTG-/AAAAAT 2 -- int10--------
    rs1486390681,2
    C--115020550(+) TTTTA-/TTTTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for TFEC (115575202 - 115799950 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for TFEC:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2421737CNV Deletion20811451
    esv2657488CNV Deletion23128226
    esv2735057CNV Deletion23290073
    dgv1130n67CNV Loss20364138
    nsv831103CNV Loss17160897
    nsv514444CNV Loss21397061
    nsv365487CNV Loss16902084
    nsv442064CNV CNV18776908
    nsv7405OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604732    OMIM disorders: --

    4 diseases for TFEC:    About MalaCards
    pycnodysostosis    waardenburg's syndrome    osteopetrosis    microphthalmia

    1 disease from the University of Copenhagen DISEASES database for TFEC:
    Microphthalmia

    TFEC for disorders           About GeneDecksing

    Genetic Association Database (GAD): TFEC

    Export disorders for TFEC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TFEC gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with TFEC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator. (PubMed id 9256061)1, 2, 3, 9 Yasumoto K. and Shibahara S. (1997)
    2. TFEC can function as a transcriptional activator of the nonmuscle myosin II heavy chain-A gene in transfected cells. (PubMed id 11467950)1, 2, 9 Chung M.C....Kawamoto S. (2001)
    3. Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. (PubMed id 15118077)1, 2 Kuiper R.P....Geurts van Kessel A. (2004)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    5. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    6. Biology and clinical relevance of the micropthalmia f amily of transcription factors in human cancer. (PubMed id 21670463)1 Haq R. and Fisher D.E. (2011)
    7. A genome-wide association study identifies a novel ma jor locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (2010)
    8. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (2007)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22797 HGNC: 11754 AceView: TFEC Ensembl:ENSG00000105967 euGenes: HUgn22797
    ECgene: TFEC H-InvDB: TFEC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TFEC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TFEC Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TFEC gene:
    Search GeneIP for patents involving TFEC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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