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

TCF12 Gene

protein-coding   GIFtS: 66
GCID: GC15P057210

Transcription Factor 12

  See related diseases
at  

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

Aliases
Transcription Factor 121 2     bHLHb202 3
HTF42 3 5     DNA-Binding Protein HTF42 3
Helix-Loop-Helix Transcription Factor 41 2     E-Box-Binding Protein2 3
Class B Basic Helix-Loop-Helix Protein 202 3     CRS32
Transcription Factor HTF-42 3     HsT172662
HEB2 3     BHLHB203
TCF-122 3     

External Ids:    HGNC: 116231   Entrez Gene: 69382   Ensembl: ENSG000001402627   OMIM: 6004805   UniProtKB: Q990813   

Export aliases for TCF12 gene to outside databases

Previous GC identifers: GC15P052769 GC15P050257 GC15P054789 GC15P054926 GC15P054998 GC15P034034


(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 TCF12 Gene:
The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes
the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal
muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the
formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this
gene have been described, but the full-length nature of some of these variants has not been determined. (provided
by RefSeq, Jul 2008)

GeneCards Summary for TCF12 Gene: 
TCF12 (transcription factor 12) is a protein-coding gene. Diseases associated with TCF12 include photokeratitis, and extraskeletal myxoid chondrosarcoma, and among its related super-pathways are Myogenesis and Factors Promoting Cardiogenesis in Vertebrates. GO annotations related to this gene include transcription regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TCF4.

UniProtKB/Swiss-Prot: HTF4_HUMAN, Q99081
Function: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates
transcription by binding to the E box (5'-CANNTG-3')

Gene Wiki entry for TCF12 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCF12 gene promoter:
         SRF   SRF (504 AA)   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCF12 promoter sequence
   Search SABiosciences Chromatin IP Primers for TCF12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCF12


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

Entrez Gene cytogenetic band: 15q21   Ensembl cytogenetic band:  15q21.3   HGNC cytogenetic band: 15q21

TCF12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCF12 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P057210:  view genomic region     (about GC identifiers)

Start:
57,210,821 bp from pter      End:
57,591,479 bp from pter
Size:
380,659 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: HTF4_HUMAN, Q99081 (See protein sequence)
Recommended Name: Transcription factor 12  
Size: 682 amino acids; 72965 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers
with myogenin, E12 and ITF2 proteins. Interacts with PTF1A. Interacts with NEUROD2 (By similarity). Interacts
with RUNX1T1
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for TCF12:
2KNH (3D)    
Secondary accessions: Q7Z3D9 Q86TC1 Q86VM2
Alternative splicing: 3 isoforms:  Q99081-1   Q99081-2   Q99081-3   

Explore the universe of human proteins at neXtProt for TCF12: NX_Q99081

Explore proteomics data for TCF12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99081

  • TCF12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TCF12 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_003196.1  NP_996919.1  NP_996920.1  NP_996921.1  NP_996923.1  

    ENSEMBL proteins: 
     ENSP00000388940   ENSP00000267811   ENSP00000453876   ENSP00000331057   ENSP00000453737  
     ENSP00000454109   ENSP00000453653   ENSP00000440017   ENSP00000444696   ENSP00000342459  
     ENSP00000453264   ENSP00000454102   ENSP00000454823   ENSP00000456280   ENSP00000396881  
    Reactome Protein details: Q99081
    Human Recombinant Protein Products for TCF12: 
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    Novus Biologicals TCF12 Proteins
    Novus Biologicals TCF12 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TCF12 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005667transcription factor complex IEA--

    TCF12 for ontologies           About GeneDecksing



    TCF12 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for TCF12 

    Assay Products for TCF12: 
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    Cloud-Clone Corp. ELISAs for TCF12 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q99081

    ProtoNet protein and cluster: Q99081

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

    UniProtKB/Swiss-Prot: HTF4_HUMAN, Q99081
    Domain: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription
    factors
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    TCF12 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HTF4_HUMAN, Q99081
    Function: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates
    transcription by binding to the E box (5'-CANNTG-3')

         Genatlas biochemistry entry for TCF12:
    transcription factor 12,involved in differentiation of muscle cells and in regulation of gene expression during
    hematopoiesis

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IDA11802795
    GO:0005515protein binding IPI11802795
    GO:0044212contributes to transcription regulatory region DNA binding IDA11802795
    GO:0046982protein heterodimerization activity IEA--
         
    TCF12 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tcf12):
     behavior/neurological  cellular  growth/size  hematopoietic system  immune system 
     mortality/aging  nervous system 

    TCF12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tcf12tm1Zhu for TCF12

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TCF12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TCF12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TCF12 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TCF12 

    miRNA
    Products:
        
    miRTarBase miRNAs that target TCF12:
    hsa-mir-204 (MIRT005845)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TCF12
    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate TCF12 (see all 114):
    hsa-miR-548j hsa-miR-607 hsa-miR-3146 hsa-miR-200a hsa-miR-1258 hsa-miR-219-5p hsa-miR-138-2* hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidTCF12 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF12


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

    SuperPaths for TCF12 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1CDO in myogenesis
    CDO in myogenesis1.00
    Myogenesis1.00
    2Human Embryonic Stem Cell Pluripotency
    Human Embryonic Stem Cell Pluripotency0.50
    Factors Promoting Cardiogenesis in Vertebrates0.50
    3Rho Family GTPases
    MAPK Signaling0.58
    ILK Signaling0.49
    4Axon guidance
    Developmental Biology0.69
    5TGF-Beta Pathway
    JNK Pathway0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TCF12 (see all 7)
        MAPK Signaling
    ILK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Human Embryonic Stem Cell Pluripotency
    JNK Pathway

    2 Cell Signaling Technology (CST) Pathways for TCF12
        Wnt / Hedgehog / Notch
    Lymphocyte Signaling

    1 BioSystems Pathway for TCF12
        Id Signaling Pathway

    3        Reactome Pathways for TCF12
        Developmental Biology
    Myogenesis
    CDO in myogenesis



    TCF12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCF12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/40 Interacting proteins for TCF12 (Q990812, 3 ENSP000003310574) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAL1P175422, 3, ENSP000002943394MINT-8142126 I2D: score=3 STRING: ENSP00000294339
    TCF3P159232, 3, ENSP000002629654MINT-8142126 I2D: score=2 STRING: ENSP00000262965
    RUNX1Q011962, 3, ENSP000003003054MINT-8142126 I2D: score=3 STRING: ENSP00000300305
    ID3Q025353, ENSP000003636894I2D: score=3 STRING: ENSP00000363689
    CBFA2T3O750813, ENSP000002686794I2D: score=1 STRING: ENSP00000268679
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS8163514
    GO:0006955immune response TAS1312219
    GO:0007517muscle organ development TAS1312219
    GO:0010628positive regulation of gene expression ----

    TCF12 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for TCF12 (HTF4)

    Search CenterWatch for drugs/clinical trials and news about TCF12 / HTF4

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

    REFSEQ mRNAs for TCF12 gene (5 alternative transcripts): 
    NM_003205.3  NM_207036.1  NM_207037.1  NM_207038.1  NM_207040.1  

    Unigene Cluster for TCF12:

    Transcription factor 12
    Hs.511504  [show with all ESTs]
    Unigene Representative Sequence: NM_207037
    18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000438423(uc002aea.3 uc002aeb.3) ENST00000267811(uc010bfs.3 uc002aec.3 uc002aed.3 uc010ugq.2)
    ENST00000558908 ENST00000559609 ENST00000560190 ENST00000333725 ENST00000557843(uc010ugm.1)
    ENST00000557947 ENST00000561152 ENST00000569880 ENST00000561346 ENST00000559216
    ENST00000560887 ENST00000561235 ENST00000560764 ENST00000543579 ENST00000537840
    ENST00000343827(uc002aee.3 uc010bft.3 uc010ugo.2)
    miRNA
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    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate TCF12 (see all 114):
    hsa-miR-548j hsa-miR-607 hsa-miR-3146 hsa-miR-200a hsa-miR-1258 hsa-miR-219-5p hsa-miR-138-2* hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidTCF12 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK294617.1 AK294991.1 AK302749.1 AK302923.1 AK303028.1 AK304007.1 AK308101.1 AK310708.1 
    AK311359.1 AK311709.1 AK312710.1 AL831981.2 BC050556.1 BC051769.2 BX537967.1 M65209.1 
    M80627.1 M83233.1 

    24/27 DOTS entries (see all 27):

    DT.121029829  DT.101956112  DT.100823552  DT.91767506  DT.101965625  DT.97846916  DT.91669336  DT.91767505 
    DT.121029987  DT.121029905  DT.86996550  DT.75126795  DT.95124517  DT.100850811  DT.121029839  DT.121029910 
    DT.121029942  DT.40195798  DT.40272569  DT.87078934  DT.91767500  DT.92053636  DT.95138620  DT.97835783 

    24/347 AceView cDNA sequences (see all 347):

    BG413517 BM988206 AU120213 BQ430819 BQ710370 AW068970 CR597209 BU729576 
    AW627746 AL831981 BU742766 AI953004 BQ894394 AI130977 BQ213520 BM454444 
    AA431863 BX493109 BM702864 BG287914 BE765990 T41074 BM722106 BG413501 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for TCF12 (see all 14)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a ·
    SP1:                                      -     -     -                       -     -                                         -     -                           
    SP2:                                      -     -                             -     -                                         -     -                           
    SP3:                                      -     -                             -     -                                         -     -                           
    SP4:                                      -     -     -                       -     -                                         -     -                           
    SP5:                                                                                                                                                            

    ExUns: 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c
    SP1:              -                                         -     -                           
    SP2:              -                                         -     -                           
    SP3:              -           -                             -     -                           
    SP4:              -           -                             -     -                           
    SP5:              -           -                             -     -                           


    ECgene alternative splicing isoforms for TCF12

    (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

    TCF12 expression in normal human tissues (normalized intensities)      TCF12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTAAAGGAGG
    TCF12 Expression
    About this image


    TCF12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
             Thalamus
             Midbrain dopaminergic-like neurons ( Generation of midbrain dopaminergic, forebrain...
             ectoderm/neural ectoderm/future brain   
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
             Metencephalon
     
     Neural Ectoderm (Nervous System)    fully expand to see all 5 entries
             Neural Plate
             ectoderm/neural ectoderm/future spinal cord   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Retina
             sensory organ/eye/cornea   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             Ureter
             visceral organ/bladder   

    See TCF12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCF12

    SOURCE GeneReport for Unigene cluster: Hs.511504

    UniProtKB/Swiss-Prot: HTF4_HUMAN, Q99081
    Tissue specificity: Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell
    line

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    (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 TCF12 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcf121 , 5 transcription factor 121, 5 91.45(n)1
    95.61(a)1
      9 (39.85 cM)5
    214061  NM_011544.31  NP_035674.21 
     718442525 
    chicken
    (Gallus gallus)
    Aves TCF121 transcription factor 12 83.39(n)
    88.74(a)
      396334  NM_205375.2  NP_990706.2 
    lizard
    (Anolis carolinensis)
    Reptilia TCF126
    --
    Uncharacterized protein
    78(a)
    73(a)
    1 ↔ 1
    possible ortholog
    GL343573.1(385087-434217)
    AAWZ02036688(11524-14458)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.81652 Xenopus laevis helix-loop-helix transcription factor more 82.58(n)    U25959.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570834532   -- 82.13(n)    57083453 
    fruit fly
    (Drosophila melanogaster)
    Insecta da1 , 3 oogenesis transcription factor3
    daughterless1
    65(a)3
    43.29(n)1
    41.67(a)1
      344131  NM_057841.31  NP_477189.11 
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-26
    Protein HLH-2, isoform a
    22(a)
    1 → many
    I(7190848-7193916)


    ENSEMBL Gene Tree for TCF12 (if available)
    TreeFam Gene Tree for TCF12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TCF12 gene
    TCF42  TCF32  
    2 SIMAP similar genes for TCF12 using alignment to 20 protein entries:     HTF4_HUMAN (see all proteins):
    TCF4    TCF3

    TCF12 for paralogs           About GeneDecksing



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

    10/7916 SNPs in TCF12 are shown (see all 7916)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs714414591,2
    C--34373062(+) ATATA-/TA/   
      TATATA
    GTGGT
    5 -- int11NA 2
    rs667118911,2
    C--37583048(-) TTCGC-/TGTATTT 5 -- int11Minor allele frequency- TG:0.00NA 2
    rs755789671,2
    C,F--57212756(+) AACCTA/GAGGGC 4 -- int11Minor allele frequency- G:0.03NA 120
    rs795889691,2
    C,F--57212780(+) TTTTAA/GTGGGT 4 -- int11Minor allele frequency- G:0.02WA 118
    rs1173422731,2
    C,F--57212821(+) CAGCAC/TCTATA 4 -- int11Minor allele frequency- T:0.01NA 120
    rs1869502111,2
    --57212828(+) TATACC/GTGCTT 4 -- int10--------
    rs340135921,2
    C,F--57212834(+) TGCTTT/CATACA 4 -- int16Minor allele frequency- C:0.07NA 308
    rs1914202971,2
    --57212875(+) ATTTAA/GTGGGC 4 -- int10--------
    rs609720021,2
    C--57213019(+) TCTTCA/GGAACA 4 -- int13Minor allele frequency- G:0.19WA EA 240
    rs1849452691,2
    --57213028(+) CAAAAA/TGTAAC 4 -- int10--------

    HapMap Linkage Disequilibrium report for TCF12 (57210821 - 57460821 bp, first 250kb of TCF12)

    Structural Variations
         Database of Genomic Variants (DGV) 10/13 variations for TCF12 (see all 13):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749733CNV Deletion23290073
    nsv1546CNV Insertion18451855
    nsv94799CNV Insertion16902084
    nsv94818CNV Insertion16902084
    nsv94861CNV Loss16902084
    nsv904251CNV Loss21882294
    nsv457164CNV Loss19166990
    nsv904250CNV Loss21882294
    nsv833021CNV Gain17160897
    nsv457162CNV Gain19166990


    Human Gene Mutation Database (HGMD): TCF12
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600480    OMIM disorders: --

    18 diseases for TCF12:    About MalaCards
    photokeratitis    extraskeletal myxoid chondrosarcoma    myxoid chondrosarcoma    dyslexia
    diamond-blackfan anemia    protein s deficiency    human t-cell leukemia virus type 1    chondrosarcoma
    t-cell leukemia    down syndrome    acute lymphoblastic leukemia    lymphoblastic leukemia
    anemia    leukemia    schizophrenia    colorectal cancer
    thyroiditis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for TCF12:
    Articulation disorder     Photokeratitis

    TCF12 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TCF12
    Human Genome Epidemiology (HuGE) Navigator: TCF12 (2 documents)

    Export disorders for TCF12 gene to outside databases

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

    PubMed articles for TCF12 gene, integrated from 9 sources (see all 101):
    (articles sorted by number of sources associating them with TCF12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HTF4: a new human helix-loop-helix protein. (PubMed id 1886779)1, 2, 3 Zhang Y.... Bina M. (1991)
    2. HEB, a helix-loop-helix protein related to E2A and ITF2 that can modulate the DNA-binding ability of myogenic regulatory factors. (PubMed id 1312219)1, 2, 9 Hu J.S.... Kingston R.E. (1992)
    3. Genomic organization of human TCF12 gene and spliced mRNA variants producing isoforms of transcription factor HTF4. (PubMed id 12826747)1, 2, 9 Gan T.I.... Bina M. (2002)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. The variant rs1867277 in FOXE1 gene confers thyroid c ancer susceptibility through the recruitment of USF1/USF2 transcription factors . (PubMed id 19730683)1, 4 Landa I....Robledo M. (2009)
    6. The nucleotide sequence of the human transcription factor HTF4a cDNA. (PubMed id 1446075)1, 2 Zhang Y. and Bina M. (1992)
    7. CBFA2T3-ZNF652 corepressor complex regulates transcription of the E-box gene HEB. (PubMed id 18456661)1, 9 Kumar R....Callen D.F. (2008)
    8. Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21. (PubMed id 7842744)1, 9 Zhang Y....Bina M. (1995)
    9. AML1/ETO oncoprotein is directed to AML1 binding regions and co-localizes with AML1 and HEB on its targets. (PubMed id 19043539)1, 9 Gardini A....Alcalay M. (2008)
    10. Regulation of pT alpha gene expression by a dosage of E2A, HEB, and SCL. (PubMed id 12566462)1, 9 Tremblay M....Hoang T. (2003)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6938 HGNC: 11623 AceView: TCF12 Ensembl:ENSG00000140262 euGenes: HUgn6938
    ECgene: TCF12 H-InvDB: TCF12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TCF12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TCF12 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TCF12 gene:
    Search GeneIP for patents involving TCF12

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



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