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TCF12 Gene

protein-coding   GIFtS: 67
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)
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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 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 craniosynostosis 3, and photokeratitis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   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 Chromatin IP Primers for TCF12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: 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
2 PDB 3D structures from and Proteopedia for TCF12:
2KNH (3D)        4JOL (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: 

  • Ubiquitination2 at Lys110, Lys151, Lys571
  • Modification sites at PhosphoSitePlus

  • See TCF12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    TCF12 Human Recombinant Protein Products:

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    OriGene Custom MassSpec
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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

    TCF12 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for TCF12 (TCF-12/HTF4)
    Cell Signaling Technology (CST) Antibodies for TCF12  (TCF12 iso1)
    OriGene Antibodies for TCF12
    OriGene Custom Antibody Services for TCF12
    Novus Biologicals TCF12 Antibodies
    Abcam antibodies for TCF12
    Cloud-Clone Corp. Antibodies for TCF12
    ThermoFisher Antibodies for TCF12
    LSBio Antibodies in human, mouse, rat for TCF12

    TCF12 Assay Products:

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    GenScript Custom Assay Services for TCF12
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TCF12
    Cloud-Clone Corp. CLIAs for TCF12


    (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 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,
    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: 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): Selected molecular function terms (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:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tcf12):
     behavior/neurological  growth/size/body  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: Let us create your new Knockout/Knockin mouse model for TCF12
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  ACAGCTGCTG 

    miRNA
    Products:
        
    miRTarBase miRNAs that target TCF12:
    hsa-mir-1224-3p (MIRT036549), hsa-mir-155-5p (MIRT020994), hsa-mir-26b-5p (MIRT030001), hsa-mir-211-5p (MIRT006464), hsa-mir-204-5p (MIRT005845), hsa-mir-375 (MIRT019970)

    Block miRNA regulation of human, mouse, rat TCF12 using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for TCF12
    Predesigned siRNA for gene silencing in human, mouse, rat TCF12

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TCF12

    Clone
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    OriGene clones in human, mouse for TCF12 (see all 28)
    OriGene ORF clones in mouse, rat for TCF12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): TCF12 (NM_003205)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCF12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF12

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TCF12 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF12


    (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
    HTF4_HUMAN, Q99081: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    TCF12 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 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
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50
    3ERK Signaling
    MAPK Signaling0.58
    ILK Signaling0.49
    4L1CAM interactions
    Developmental Biology0.63
    5TGF-Beta Pathway
    JNK Pathway0.51

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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

    1 Reactome Pathway for TCF12
        CDO in myogenesis



    TCF12 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TCF12
    Interactions:

        GeneGlobe Interaction Network for TCF12

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

    Selected Interacting proteins for TCF12 (Q990812, 3 ENSP000003310574) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    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): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated 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, 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 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,
    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 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
    Selected 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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    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat TCF12
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): TCF12 (NM_003205)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF12
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TCF12
      QuantiTect SYBR Green Assays in human, mouse, rat TCF12
      QuantiFast Probe-based Assays in human, mouse, rat TCF12

    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 

    Selected 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 

    Selected AceView cDNA sequences (see all 347):

    AA582669 BI492280 BM702864 AW237272 BX489102 T40207 BQ026842 BM723149 
    CB145847 AW271538 BQ894394 BX472778 AI431913 AA789134 AI830764 BQ010518 
    AA446586 BX493109 CR597209 CK903693 AI874284 AW273078 BM988206 BQ710370 

    GeneLoc Exon Structure

    Selected 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™, 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

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    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
     selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
             Cerebral Cortex
             Midbrain dopaminergic-like neurons
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Oligodendrocyte Precursor Cells Motor Neural Progenitor Domain
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             Ureter
    TCF12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCF12 Protein Expression

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

    Orthologs for TCF12 gene from Selected 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 
     718426885 
    chicken
    (Gallus gallus)
    Aves TCF121 transcription factor 12 83.39(n)
    88.74(a)
      396334  NM_205375.3  NP_990706.2 
    lizard
    (Anolis carolinensis)
    Reptilia TCF126
    transcription factor 12
    78(a)
    1 ↔ 1
    GL343573.1(385087-434217)
    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 da3 oogenesis transcription factor 65(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-26
    Protein HLH-2, isoform a (hlh-2) mRNA, complete cd...
    25(a)
    1 → many
    I(7190848-7193916) WBGene00001949


    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)
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    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), 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 TCF12 (see all 7918)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700974
    Craniosynostosis 3 (CRS3)4--see VAR_0700972 Q E mis40--------
    VAR_0700964
    Craniosynostosis 3 (CRS3)4--see VAR_0700962 L P mis40--------
    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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TCF12
    DNA2.0 Custom Variant and Variant Library Synthesis for TCF12

    (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.)
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    OMIM gene information: 600480   
    OMIM disorders: 615314  
    UniProtKB/Swiss-Prot: HTF4_HUMAN, Q99081
  • Craniosynostosis 3 (CRS3) [MIM:615314]: A primary abnormality of skull growth involving premature fusion
    of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain
    resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated
    promptly to avoid permanent neurodevelopmental disability. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • Selected diseases for TCF12 (see all 29):    About MalaCards
    craniosynostosis 3    photokeratitis    craniosynostosis, type 1    articulation disorder
    extraskeletal myxoid chondrosarcoma    myxoid chondrosarcoma    chondrosarcoma    dyslexia
    diamond-blackfan anemia    craniosynostosis    protein s deficiency    human t-cell leukemia virus type 1
    anaplastic large cell lymphoma    brain cancer    pulmonary function    t-cell leukemia
    labyrinthitis    down syndrome    thyroid cancer    lymphoblastic leukemia

    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)
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    PubMed articles for TCF12 gene, integrated from 10 sources (see all 103):
    (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. (Nucleic Acids Res. 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. (Mol. Cell. Biol. 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. (Cytogenet. Genome Res. 2002)
    4. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. (PubMed id 23354436)1, 2 Sharma V.P....Wilkie A.O. (Nat. Genet. 2013)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors. (PubMed id 19730683)1, 4 Landa I....Robledo M. (PLoS Genet. 2009)
    7. The nucleotide sequence of the human transcription factor HTF4a cDNA. (PubMed id 1446075)1, 2 Zhang Y. and Bina M. (DNA Seq. 1992)
    8. CBFA2T3-ZNF652 corepressor complex regulates transcription of the E-box gene HEB. (PubMed id 18456661)1, 9 Kumar R....Callen D.F. (J. Biol. Chem. 2008)
    9. Localization of the human HTF4 transcription factors 4 gene (TCF12) to chromosome 15q21. (PubMed id 7842744)1, 9 Zhang Y....Bina M. (Cytogenet. Cell Genet. 1995)
    10. 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. (PLoS Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6938 HGNC: 11623 AceView: TCF12 Ensembl:ENSG00000140262 euGenes: HUgn6938
    ECgene: TCF12 H-InvDB: TCF12

    (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 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.)
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    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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