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TCF21 Gene

protein-coding   GIFtS: 55
GCID: GC06P134251

Transcription Factor 21

  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)
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Aliases
Transcription Factor 211 2     pod-12
POD12 3 5     BHLHA233
Class A Basic Helix-Loop-Helix Protein 232 3     Capsulin3
Podocyte-Expressed 12 3     Epicardin3
bHLHa232 3     Pod-13
capsulin2     TCF-213
epicardin2     

External Ids:    HGNC: 116321   Entrez Gene: 69432   Ensembl: ENSG000001185267   OMIM: 6033065   UniProtKB: O436803   

Export aliases for TCF21 gene to outside databases

Previous GC identifers: GC06P133833 GC06P134057 GC06P134190 GC06P131779


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TCF21 Gene:
TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific,
and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and
glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for
this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for TCF21 Gene:
TCF21 (transcription factor 21) is a protein-coding gene. Diseases associated with TCF21 include clear cell renal cell carcinoma, and gigantism. GO annotations related to this gene include histone deacetylase binding and protein dimerization activity. An important paralog of this gene is TCF24.

UniProtKB/Swiss-Prot: TCF21_HUMAN, O43680
Function: Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial
differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or
more subsets of epicardial cell types

Gene Wiki entry for TCF21 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)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the TCF21 gene promoter:
         MyoD   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCF21 promoter sequence
   Search Chromatin IP Primers for TCF21

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TCF21


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

Entrez Gene cytogenetic band: 6q23-q24   Ensembl cytogenetic band:  6q23.2   HGNC cytogenetic band: 6q23-q24

TCF21 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCF21 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P134251:  view genomic region     (about GC identifiers)

Start:
134,210,259 bp from pter      End:
134,216,691 bp from pter
Size:
6,433 bases      Orientation:
plus strand

(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.)
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UniProtKB/Swiss-Prot: TCF21_HUMAN, O43680 (See protein sequence)
Recommended Name: Transcription factor 21  
Size: 179 amino acids; 19715 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3 and
binds the E box (5'-CANNTG-3')
Secondary accessions: E1P581 O43545 Q6ICV0 Q9BZ14

Explore the universe of human proteins at neXtProt for TCF21: NX_O43680

Explore proteomics data for TCF21 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TCF21 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_003197.2  NP_938206.1  

    ENSEMBL proteins: 
     ENSP00000356857   ENSP00000237316  

    TCF21 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for TCF21
    OriGene Protein Over-expression Lysate for TCF21
    OriGene MassSpec for TCF21
    OriGene Custom Protein Services for TCF21
    GenScript Custom Purified and Recombinant Proteins Services for TCF21
    Novus Biologicals TCF21 Protein
    Novus Biologicals TCF21 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TCF21

    TCF21 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for TCF21
    OriGene Custom Antibody Services for TCF21
    Novus Biologicals TCF21 Antibodies
    Abcam antibodies for TCF21
    Cloud-Clone Corp. Antibodies for TCF21
    ThermoFisher Antibodies for TCF21
    LSBio Antibodies in human, mouse, rat for TCF21

    TCF21 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TCF21
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TCF21
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TCF21
    Cloud-Clone Corp. CLIAs for TCF21


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

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry O43680

    ProtoNet protein and cluster: O43680

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

    UniProtKB/Swiss-Prot: TCF21_HUMAN, O43680
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    TCF21 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TCF21_HUMAN, O43680
    Function: Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial
    differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or
    more subsets of epicardial cell types

         Genatlas biochemistry entry for TCF21:
    transcription factor 21,murine Pod-1 homolog,mesoderm specific,expressed in mesenchymal and glomerular epithelial
    cells in the developing kidney

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS--
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA12493738
    GO:0005515protein binding ----
    GO:0042826histone deacetylase binding IEA--
    GO:0043425bHLH transcription factor binding IPI12493738
         
    TCF21 for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tcf21):
     cardiovascular system  craniofacial  digestive/alimentary  endocrine/exocrine gland  hematopoietic system 
     homeostasis/metabolism  immune system  integument  mortality/aging  muscle 
     normal  renal/urinary system  reproductive system  respiratory system  tumorigenesis 

    TCF21 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tcf21tm1Eno for TCF21

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TCF21
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TCF21

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TCF21
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TCF21

    miRNA
    Products:
        
    miRTarBase miRNAs that target TCF21:
    hsa-mir-21-5p (MIRT007085), hsa-mir-181a-5p (MIRT025053)

    Block miRNA regulation of human, mouse, rat TCF21 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TCF21 (see all 22):
    hsa-miR-142-5p hsa-miR-3942-5p hsa-miR-134 hsa-miR-25 hsa-let-7a-2* hsa-miR-138-2* hsa-miR-340 hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidTCF21 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TCF21
    Predesigned siRNA for gene silencing in human, mouse, rat TCF21

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TCF21

    Clone
    Products:
         
    OriGene clones in human, mouse for TCF21 (see all 13)
    OriGene ORF clones in mouse, rat for TCF21
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TCF21 (NM_198392)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCF21
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF21

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TCF21
    Browse ESI BIO Cell Lines and PureStem Progenitors for TCF21 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF21


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TCF21_HUMAN, O43680: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12493738

    TCF21 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).
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    SuperPaths for TCF21 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50
    2ERK Signaling
    MAPK Signaling0.58
    ILK Signaling0.49
    3TGF-Beta Pathway
    JNK Pathway0.51
    4PAK Pathway
    Epithelial Adherens Junctions0.36
    5WNT Signaling
    WNT Signaling

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TCF21 (see all 7)
        MAPK Signaling
    ILK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Human Embryonic Stem Cell Pluripotency
    JNK Pathway


        Pathway & Disease-focused RT2 Profiler PCR Array including TCF21: 
              Lung Cancer in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TCF21

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for TCF21 (O436802, 3 ENSP000002373164) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APLP1P516932, 3MINT-63161 I2D: score=5 
    LMO4P619682, 3MINT-60891 I2D: score=3 
    TCF3P159233, ENSP000002629654I2D: score=4 STRING: ENSP00000262965
    APEX1P276953, ENSP000002167144I2D: score=1 STRING: ENSP00000216714
    ARP102753, ENSP000003638224I2D: score=1 STRING: ENSP00000363822
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 28):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA12493738
    GO:0001657ureteric bud development ISS--
    GO:0001658branching involved in ureteric bud morphogenesis ISS--
    GO:0001763morphogenesis of a branching structure ISS--
    GO:0001822kidney development ISS--

    TCF21 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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TCF21



    (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 )
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    REFSEQ mRNAs for TCF21 gene (2 alternative transcripts): 
    NM_003206.3  NM_198392.2  

    Unigene Cluster for TCF21:

    Transcription factor 21
    Hs.78061  [show with all ESTs]
    Unigene Representative Sequence: NM_198392
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367882(uc003qei.4 uc003qej.2) ENST00000237316
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TCF21 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TCF21 (see all 22):
    hsa-miR-142-5p hsa-miR-3942-5p hsa-miR-134 hsa-miR-25 hsa-let-7a-2* hsa-miR-138-2* hsa-miR-340 hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidTCF21 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TCF21
    Predesigned siRNA for gene silencing in human, mouse, rat TCF21
    Clone
    Products:
         
    OriGene clones in human, mouse for TCF21 (see all 13)
    OriGene ORF clones in mouse, rat for TCF21
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TCF21 (NM_198392)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCF21
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF21
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TCF21
    OriGene qSTAR qPCR primer pairs in human, mouse for TCF21
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TCF21
      QuantiTect SYBR Green Assays in human, mouse, rat TCF21
      QuantiFast Probe-based Assays in human, mouse, rat TCF21

    Additional mRNA sequence: 

    AF035718.1 AF047419.1 AK091844.1 AK093019.1 BC025697.1 BT019660.1 CR450293.1 

    6 DOTS entries:

    DT.100767023  DT.40286161  DT.412321  DT.415294  DT.100021579  DT.100763618 

    Selected AceView cDNA sequences (see all 124):

    AI262045 BX107489 BQ016290 BM923344 CF128484 BF221953 BU688835 AL550251 
    AI628260 CR606057 CR616308 BI770998 AL552380 AA586575 CF126467 BU677833 
    CR450293 CF127034 CF128914 BF433149 CF125244 AF035718 CR594669 CF127519 

    GeneLoc Exon Structure


    (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)
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    TCF21 expression in normal human tissues (normalized intensities)      TCF21 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGAGTGCTGA
    TCF21 Expression
    About this image


    TCF21 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 12 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 4 entries
             Paraxial Mesoderm Cells Head Mesenchyme
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Epicardial Progenitors Cells Epicardium
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Paraxial Mesoderm Cells Head Mesenchyme
             Mandibular Process
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)    fully expand to see all 3 entries
             Proepicardial Progenitor cells Proepicardium
             PureStem SM30, NCr-fac & Meso-latp Progenitor
    TCF21 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCF21 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.78061
        Pathway & Disease-focused RT2 Profiler PCR Array including TCF21: 
              Lung Cancer in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TCF21
    OriGene qSTAR qPCR primer pairs in human, mouse for TCF21
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TCF21
    QuantiTect SYBR Green Assays in human, mouse, rat TCF21
    QuantiFast Probe-based Assays in human, mouse, rat TCF21
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF21

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TCF21 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcf211 , 5 transcription factor 211, 5 90.69(n)1
    96.09(a)1
      10 (10.33 cM)5
    214121  NM_011545.11  NP_035675.11 
     228172795 
    chicken
    (Gallus gallus)
    Aves TCF211 transcription factor 21 81.19(n)
    91.62(a)
      421697  NM_001277711.1  NP_001264640.1 
    lizard
    (Anolis carolinensis)
    Reptilia TCF216
    transcription factor 21
    65(a)
    1 ↔ 1
    GL343200.1(3768471-3774524)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tcf211 transcription factor 21 75.79(n)
    87.71(a)
      100126209  NM_001110048.1  NP_001103518.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tcf211 transcription factor 21 71.84(n)
    79.31(a)
      558148  NM_001037681.1  NP_001032770.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta HLH54F6
    HLH54F
    20(a)
    1 → many
    2R(13644922-13648022)


    ENSEMBL Gene Tree for TCF21 (if available)
    TreeFam Gene Tree for TCF21 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TCF21 gene
    TCF242  TCF232  MSC2  
    4 SIMAP similar genes for TCF21 using alignment to 1 protein entry:     TCF21_HUMAN:
    MSC    HAND2    TCF15    TCF24

    TCF21 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)
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    Selected SNPs for TCF21 (see all 215)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs721287791,2
    C--134208422(+) TAGCT-/ACAC  
            
    ACACA
    2 -- us2k10--------
    rs1907958261,2
    --134209406(+) GCTTAA/CTGTAT 2 -- us2k10--------
    rs563897011,2
    C--134209517(+) ACACA-/CAC   
       ACACA
    CACAC
    2 -- us2k11Minor allele frequency- CACACACA:0.00NA 2
    rs609659281,2
    C--134209521(+) ACACA-/CACA/CA
    CACACACACA
    TTTCA
    2 -- us2k11NA 2
    rs1453785241,2
    C--134209618(+) AGAAAA/CGGGAG 2 -- us2k10--------
    rs1413461481,2
    --134209805(+) CTGCTA/GTGGGA 2 -- us2k10--------
    rs1439366541,2
    --134209895(+) TGCACA/CAACAA 2 -- us2k10--------
    rs65699151,2
    C,F,A,H--134209966(+) CGAAGA/GTATTA 2 -- us2k114Minor allele frequency- G:0.10NS EA NA CSA WA 1447
    rs1468724781,2
    --134210003(+) TAAAGA/GCTGAT 2 -- us2k10--------
    rs1826696581,2
    --134210065(+) TGCTAA/GCAAAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TCF21 (134210259 - 134216691 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TCF21:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv34122CNV Loss18971310

    Human Gene Mutation Database (HGMD): TCF21
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TCF21
    DNA2.0 Custom Variant and Variant Library Synthesis for TCF21

    (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

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    OMIM gene information: 603306    OMIM disorders: --

    8 diseases for TCF21:    About MalaCards
    clear cell renal cell carcinoma    gigantism    cleft lip    renal cell carcinoma
    bronchiolitis    coronary artery disease    lung cancer    melanoma


    TCF21 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TCF21
    Human Genome Epidemiology (HuGE) Navigator: TCF21 (3 documents)

    Export disorders for TCF21 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)
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    PubMed articles for TCF21 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with TCF21)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Epicardin: a novel basic helix-loop-helix transcription factor gene expressed in epicardium, branchial arch myoblasts, and mesenchyme of developing lung, gut, kidney, and gonads. (PubMed id 9733105)1, 2, 9 Robb L.... Harvey R.P. (Dev. Dyn. 1998)
    2. Pod-1, a mesoderm-specific basic-helix-loop-helix protein expressed in mesenchymal and glomerular epithelial cells in the developing kidney. (PubMed id 9507058)1, 3, 9 Quaggin S.E....Igarashi P. (Mech. Dev. 1998)
    3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (Nat. Genet. 2011)
    4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    5. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    8. The basic-helix-loop-helix protein pod1 is critically important for kidney and lung organogenesis. (PubMed id 10572052)1, 2 Quaggin S.E....Rossant J. (Development 1999)
    9. Epigenetic regulation of the tumor suppressor gene TCF21 on 6q23-q24 in lung and head and neck cancer. (PubMed id 16415157)1, 9 Smith L.T....Plass C. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    10. POD-1 binding to the E-box sequence inhibits SF-1 and StAR expression in human adrenocortical tumor cells. (PubMed id 23313103)1 FranAsa M.M....Lotfi C.F. (Mol. Cell. Endocrinol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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      Query String
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    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)
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    Entrez Gene: 6943 HGNC: 11632 AceView: TCF21 Ensembl:ENSG00000118526 euGenes: HUgn6943
    ECgene: TCF21 H-InvDB: TCF21

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TCF21 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TCF21 gene:
    Search GeneIP for patents involving TCF21

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



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