Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TFEC Gene

protein-coding   GIFtS: 56
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

TryGeneCards Plus

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

TryGeneCards Plus

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for TFEC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

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)
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


See TFEC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000265440   ENSP00000318676   ENSP00000377125   ENSP00000417432   ENSP00000387650  

TFEC Human Recombinant Protein Products:

Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate for TFEC
OriGene Custom MassSpec
OriGene Custom Protein Services for TFEC
GenScript Custom Purified and Recombinant Proteins Services for TFEC
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

TFEC Antibody Products:

Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
OriGene Antibodies for TFEC
OriGene Custom Antibody Services for TFEC
Novus Biologicals TFEC Antibodies
Abcam antibodies for TFEC (O14948, Q8N6J9)
Cloud-Clone Corp. Antibodies for TFEC
ThermoFisher Antibodies for TFEC
LSBio Antibodies in human, mouse, rat for TFEC

TFEC Assay Products:

Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for TFEC
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for TFEC
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for TFEC
Cloud-Clone Corp. CLIAs for TFEC


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TryGeneCards Plus
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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

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:    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 2 alleles(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: Let us create your new Knockout/Knockin mouse model for TFEC
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
Products:
    
Block miRNA regulation of human, mouse, rat TFEC using miScript Target Protectors
Selected qRT-PCR 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:
    
OriGene RNAi products in human, mouse, rat for TFEC
Predesigned siRNA for gene silencing in human, mouse, rat TFEC

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for TFEC

Clone
Products:
     
OriGene clones in human, mouse for TFEC (see all 12)
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)
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

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for TFEC
Browse ESI BIO Cell Lines and PureStem Progenitors for TFEC 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFEC


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

TryGeneCards Plus

Subcellular locations from UniProtKB/Swiss-Prot
TFEC_HUMAN, O14948: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol1
mitochondrion1

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA--
GO:0005730NOT nucleolus IDA--
GO:0005737cytoplasm IDA--

TFEC for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

TryGeneCards Plus

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


    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TFEC
Interactions:

    GeneGlobe Interaction Network for TFEC

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

Selected Interacting proteins for TFEC (O149483 ENSP000002654404) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
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
CFDP1ENSP000002838824STRING: ENSP00000283882
About this table

Gene Ontology (GO): 3 biological process terms:    About this table

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

TFEC for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

TryGeneCards Plus
Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
About This Section

TryGeneCards Plus

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:
     
Block miRNA regulation of human, mouse, rat TFEC using miScript Target Protectors
Selected qRT-PCR 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:
     
OriGene RNAi products in human, mouse, rat for TFEC
Predesigned siRNA for gene silencing in human, mouse, rat TFEC
Clone
Products:
     
OriGene clones in human, mouse for TFEC (see all 12)
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
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for TFEC
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TFEC
  QuantiTect SYBR Green Assays in human, mouse, rat TFEC
  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 

Selected AceView cDNA sequences (see all 55):

CR592534 AW148458 AI433832 BE221714 BX538223 AI627398 BC029891 D43945 
BM855757 NM_012252 AW612008 AJ608795 AI522280 CD368984 AW779818 AI636071 
BM807021 AW262571 AV717493 AI671113 CB986189 AL700185 BX955989 BG427309 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TryGeneCards Plus

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
 selected tissues (see all 5) fully expand
 
 Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
         Mononuclear Myocytes Hyoid Arch Muscles
 
 Endothelium (Cardiovascular System)
         Extraembryonic Angioblasts Extraembryonic Capillary Plexus
 
 Extraembryonic Mesoderm (Extraembryonic Tissues)
         Extraembryonic Angioblasts Extraembryonic Capillary Plexus
 
 Bone (Muscoskeletal System)
         Zeugopod Periosteum
 
 Kidney (Urinary System)
TFEC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TFEC Protein Expression

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

    Custom PCR Arrays for TFEC
Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for TFEC
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TFEC
QuantiTect SYBR Green Assays in human, mouse, rat TFEC
QuantiFast Probe-based Assays in human, mouse, rat TFEC
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

TryGeneCards Plus

This gene was present in the common ancestor of animals.

Orthologs for TFEC gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tfec1 , 5 transcription factor EC1, 5 80.76(n)1
76.34(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)
tropical clawed frog
(Xenopus tropicalis)
Amphibia tfec1 transcription factor EC 67.07(n)
65.06(a)
  100487610  XM_002934967.2  XP_002935013.2 
zebrafish
(Danio rerio)
Actinopterygii tfec1 transcription factor EC 63.48(n)
65.53(a)
  556894  NM_001030105.2  NP_001025276.2 
fruit fly
(Drosophila melanogaster)
Insecta Mitf6
Mitf
14(a)
1 → many
4(1219484-1228244)
worm
(Caenorhabditis elegans)
Secernentea hlh-306
Protein HLH-30, isoform g
20(a)
1 → many
IV(4014799-4028127) WBGene00020930


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

TryGeneCards Plus
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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

TryGeneCards Plus

Selected SNPs for TFEC (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

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing TFEC
DNA2.0 Custom Variant and Variant Library Synthesis for TFEC

(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

TryGeneCards Plus
OMIM gene information: 604732    OMIM disorders: --

8 diseases for TFEC:    About MalaCards
pycnodysostosis    waardenburg's syndrome    osteopetrosis    microphthalmia
breast and colorectal cancer    type 1 diabetes    retinitis    colorectal cancer

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

TryGeneCards Plus

PubMed articles for TFEC gene, integrated from 10 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. (Biochim. Biophys. Acta 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. (Biochemistry 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. (Nucleic Acids Res. 2004)
  4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
  5. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
  6. Biology and clinical relevance of the micropthalmia family of transcription factors in human cancer. (PubMed id 21670463)1 Haq R. and Fisher D.E. (J. Clin. Oncol. 2011)
  7. A genome-wide association study identifies a novel major 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. (Diabetes 2010)
  8. Genome-wide association with select biomarker traits in the Framingham Heart Study. (PubMed id 17903293)4 Benjamin E.J....Vasan R.S. (BMC Med. Genet. 2007)
  9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  10. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

TryGeneCards Plus
 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

TryGeneCards Plus
Entrez Gene: 22797 HGNC: 11754 AceView: TFEC Ensembl:ENSG00000105967 euGenes: HUgn22797
ECgene: TFEC H-InvDB: TFEC

(According to HUGE)
About This Section

TryGeneCards Plus
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

TryGeneCards Plus
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

TryGeneCards Plus
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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

TryGeneCards Plus

 
 EMD Millipore genomic analysis products

  
 Browse Antibodies   Browse Cell Culture Products  
 Browse ELISAs   Browse Flow Cytometry Kits  
 Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
 Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
 Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
 Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
 Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
 Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
 Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
 OriGene Antibodies for TFEC   OriGene RNAi products in human, mouse, rat for TFEC  
 Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for TFEC  
 OriGene Custom Mass Spec   OriGene clones in human, mouse for TFEC  
 OriGene qSTAR qPCR primer pairs in human, mouse for TFEC   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
 OriGene ORF clones in mouse, rat for TFEC   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
 OriGene Custom Antibody Services for TFEC   OriGene Custom Protein Services for TFEC  

 
 
 Block miRNA regulation of human, mouse, rat TFEC using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TFEC
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TFEC Predesigned siRNA for gene silencing in human, mouse, rat TFEC
 QuantiFast Probe-based Assays in human, mouse, rat TFEC QuantiTect SYBR Green Assays in human, mouse, rat TFEC
 Custom PCR Arrays for TFEC Search Chromatin IP Primers for TFEC
 Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TFEC  GeneGlobe Interaction Network for TFEC
 Regulatory tfbs in TFEC promoter
 GenScript Custom Purified and Recombinant Proteins Services for TFEC GenScript cDNA clones with any tag delivered in your preferred vector for TFEC
 GenScript Custom Assay Services for TFEC GenScript Custom overexpressing Cell Line Services for TFEC
 CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
 Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
 Plasmid Preparation Custom Peptide Services
 Search for Antibodies & Assays

 Search Tocris compounds for TFEC
 Browse Sino Biological Proteins
 Browse Sino Biological Cell Lysates
 Browse Sino Biological cDNA Clones
 4000+ Proteins
 Search Sino Biological for antibodies, proteins & pathways
 Protein Production Services
 Transfection Reagents
 Protein A/G/L resins
 Isotyping reagents
 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
 TFEC antibodies
 TFEC proteins
 TFEC lysates
 Antibodies for TFEC
 See all of Abcam's Antibodies, Kits and Proteins for TFEC
 Custom Antibody / Protein Production Service
 Bulk Purchasing
 Advantages of Rabbit Monoclonal antibodies
 Abcam protocols and scientific support
 Browse ProSpec Recombinant Proteins
 Proteins for TFEC
 Antibodies for TFEC
 ELISAs for TFEC
 CLIAs for TFEC



 Browse ESI BIO Cell Lines and PureStem Progenitors for TFEC
 Gene Synthesis
 Protein Engineering
 Variant Library Synthesis
 Codon Optimization
 Protein Production and Purification
 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFEC
 Browse SwitchGear 3'UTR luciferase reporter plasmids for TFEC
 SwitchGear Promoter luciferase reporter plasmids for TFEC
 ThermoFisher Antibodies for TFEC
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFEC
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TFEC
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TFEC
 LSBio Antibodies in human, mouse, rat for TFEC
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

View Random Gene

Category
(GIFtS: )
GIFtS Group
The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes      Disease genes      TFEC gene at Home site.
Version: 3.12.136 22 July 2014
hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4