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

TFEC Gene

protein-coding   GIFtS: 56
GCID: GC07M115575

transcription factor EC
 Explore 4 diseases affiliated with
TFEC via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TFEC    

Aliases
for TFEC gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transcription Factor EC1 2     TFE-C2 3
TCFEC1 2 3     HTFEC-L1
TFECL1 2 3     TFEC-L2
BHLHe341     BHLHE343
Class E Basic Helix-Loop-Helix Protein 342 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


Summaries
for TFEC gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007933.15  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     

Proteins
for TFEC gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14948

    • TFEC Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    OriGene Protein Over-expression Lysate: TFEC
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    Novus Biologicals TFEC Proteins
    Novus Biologicals TFEC Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    TFEC Antibody Products: 
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    Uscn Antibodies for TFEC
    ThermoFisher Antibodies for TFEC

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    Uscn ELISAs and CLIAs for TFEC

    Protein Domains /
    Families
    for TFEC gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TFEC for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011598 HLH_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 family: 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


    Function
    for TFEC gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFEC (see all 4)
    OriGene shRNA RFP: TFEC
    OriGene siRNA: TFEC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFEC

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TFEC (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFEC 

    Cell Line
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    Search LifeMap BioReagents cell lines for TFEC

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFEC

    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


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

    Animal Models:
         Mouse knock-out Tfectm1Est for TFEC
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tfec):
     integument  normal  pigmentation  skeleton  vision/eye 

    TFEC for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TFEC gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1C-MYB transcription factor network
    		C-MYB transcription factor network1.00


    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



    Drugs & Compounds
    for TFEC gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for TFEC gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
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    Browse OriGene MicroRNA Expression Plasmids
    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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFEC (see all 4)
    OriGene shRNA RFP: TFEC
    OriGene siRNA: TFEC
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFEC
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TFEC (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TFEC (see all 2)
    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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    AW612008 AW148458 BE221714 CD368984 BC029891 CR592534 BX538223 D43945 
    AI522280 BM855757 NM_012252 AI433832 AJ608795 AI627398 BG401094 AW779818 
    AI671113 AI540373 AL700185 BG429252 BM146803 BM807021 AL704178 AW262571 

    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

    Expression
    for TFEC gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTAAAGTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TFEC expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor CellsRetinal Pigmented Epithelium
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for TFEC gene

    (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 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 79(a)
    		 1 ↔ 1
    		 5(60455974-60470983)
    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
    		 11(a)
    		 1 → many
    		 4(1219484-1228244)
    worm
    (Caenorhabditis elegans)    		 Secernentea hlh-306
    		 Helix Loop Helix family member (hlh-30)
    		 17(a)
    		 1 → many
    		 IV(4015480-4028123)


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

    Paralogs
    for TFEC gene

    (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



    Genomic Variants
    for TFEC gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1413 NCBI SNPs in TFEC are shown (see all 1413)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs45309801,2
    		C,F,H,--114970421(+) AGGAGA/GCCATA 3 -- ds50017Minor allele frequency- G:0.02NS EA NA 664
    rs734587531,2
    		C,--114970667(+) TGGTAC/TATTTT 3 -- ut312Minor allele frequency- T:0.10WA 120
    rs566571951,2
    		C,--114971154(+) TATTCT/AATGGA 3 -- ut312Minor allele frequency- A:0.12WA 120
    rs117663601,2
    		H--114971406(+) AGTAGA/CCAATA 3 -- ut31 ese34Minor allele frequency- C:0.00NS EA 420
    rs778164941,2
    		F,--114972600(+) TAAAAA/TATGAT 3 -- ut311Minor allele frequency- T:0.03NA 120
    rs2015049111,2
    		C--114972624(+) TTGTTA/GAAAAA 3 -- ut310--------
    rs47307001,2
    		C,F,A,H,--114973074(+) TTTGAT/AAAACG 3 -- ut317Minor allele frequency- A:0.09NS EA NA 538
    rs172415071,2
    		C,F,H,--114973516(+) CATAAT/CCTGAA 3 -- ut3121Minor allele frequency- C:0.07NA NS EA 2062
    rs172415841,2
    		C,F,H,--114973853(+) GAATTT/CTGTTA 3 -- ut3119Minor allele frequency- C:0.07NA NS EA 2056
    rs132441051,2
    		C,F,H,--114974212(+) ACATCT/ACACTC 3 -- ut318Minor allele frequency- A:0.09NS EA NA 522

    HapMap Linkage Disequilibrium report for TFEC (115575202 - 115799950 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for TFEC
         2 CNVs: 37856 6565

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    Disorders / Diseases
    for TFEC gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TFEC for disorders           About GeneDecksing

    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

    Export disorders for TFEC gene to outside databases

    Publications
    for TFEC gene

    (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 15):
    (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. 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)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. The DNA sequence of human chromosome 7. (PubMed id 12853948)1 Hillier L.W.... Wilson R.K. (2003)

    External Searches for TFEC gene

    (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)

    Genome Databases showing TFEC gene

    (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

    Other Databases showing TFEC gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TFEC gene

    (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

    Intellectual Property
    for TFEC gene

    (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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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