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TCF4 Gene

protein-coding   GIFtS: 67
GCID: GC18M052889

Transcription Factor 4

  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 41 2     SL3-3 Enhancer Factor 22 3
ITF22 3 5     PTHS2 5
SEF22 3 5     E2-22
Class B Basic Helix-Loop-Helix Protein 192 3     SEF2-12
Immunoglobulin Transcription Factor 22 3     SEF2-1A2
ITF-22 3     SEF2-1B2
SEF-22 3     SEF2-1D2
TCF-42 3     BHLHB193
bHLHb192 3     

External Ids:    HGNC: 116341   Entrez Gene: 69252   Ensembl: ENSG000001966287   OMIM: 6022725   UniProtKB: P158843   

Export aliases for TCF4 gene to outside databases

Previous GC identifers: GC18M052983 GC18M052797 GC18M052679 GC18M051043 GC18M051045 GC18M049599


(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 TCF4 Gene:
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein
recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin
enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects
in this gene are a cause of Pitt-Hopkins syndrome. Multiple alternatively spliced transcript variants that encode
different proteins have been described. (provided by RefSeq, Aug 2011)

GeneCards Summary for TCF4 Gene:
TCF4 (transcription factor 4) is a protein-coding gene. Diseases associated with TCF4 include pitt-hopkins syndrome, and pallister-hall syndrome. GO annotations related to this gene include protein C-terminus binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is TCF12.

UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
Function: Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the
initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to
the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By
similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'

Gene Wiki entry for TCF4 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_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TCF4 gene promoter:
         FOXD3   C/EBPalpha   E47   CREB   SRY   Nkx6-1   deltaCREB   POU2F1a   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCF4 promoter sequence
   Search Chromatin IP Primers for TCF4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TCF4


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.2   HGNC cytogenetic band: 18q21.1

TCF4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCF4 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M052889:  view genomic region     (about GC identifiers)

Start:
52,889,562 bp from pter      End:
53,332,018 bp from pter
Size:
442,457 bases      Orientation:
minus 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: ITF2_HUMAN, P15884 (See protein sequence)
Recommended Name: Transcription factor 4  
Size: 667 amino acids; 71308 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers
with myogenin. Interacts with HIVEP2. Interacts with NEUROD2 (By similarity). Interacts with AGBL1
Sequence caution: Sequence=AAA60310.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous
sequence; Sequence=AAA60312.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence;
1 PDB 3D structure from and Proteopedia for TCF4:
2KWF (3D)    
Secondary accessions: B3KT62 B3KUC0 B4DT37 B4DUG3 B7Z5M6 B7Z6Y1 G0LNT9 G0LNU0 G0LNU1 G0LNU2
G0LNU5 G0LNU8 G0LNU9 G0LNV0 G0LNV1 H3BPQ1 Q08AP2 Q08AP3 Q15439 Q15440 Q15441
Alternative splicing: 14 isoforms:  P15884-1   P15884-2   P15884-3   P15884-4   P15884-5   P15884-6   P15884-7   P15884-8   
P15884-9   P15884-10   P15884-11   P15884-12   P15884-13   P15884-14   

Explore the universe of human proteins at neXtProt for TCF4: NX_P15884

Explore proteomics data for TCF4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TCF4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (12 alternative transcripts): 
    NP_001077431.1  NP_001230155.2  NP_001230156.1  NP_001230157.1  NP_001230159.1  NP_001230160.1  NP_001230161.1  NP_001230162.1  
    NP_001230163.1  NP_001230164.1  NP_001230165.1  NP_003190.1  

    ENSEMBL proteins: 
     ENSP00000348374   ENSP00000455135   ENSP00000409447   ENSP00000439656   ENSP00000445202  
     ENSP00000440731   ENSP00000457649   ENSP00000455346   ENSP00000439827   ENSP00000441562  
     ENSP00000455179   ENSP00000457765   ENSP00000455984   ENSP00000455763   ENSP00000455261  
     ENSP00000454366   ENSP00000455418   ENSP00000456125   ENSP00000457263   ENSP00000381382  
     ENSP00000454647   ENSP00000468729   ENSP00000455304   ENSP00000456983   ENSP00000457392  
     ENSP00000455071   ENSP00000458122   ENSP00000456802   ENSP00000457245   ENSP00000454584  
     ENSP00000468277   ENSP00000456220   ENSP00000457113   ENSP00000455163   ENSP00000456917  
     ENSP00000457747   ENSP00000454328   ENSP00000455450   ENSP00000454866   ENSP00000454352  
     ENSP00000457082   ENSP00000454441   ENSP00000346440  
    Reactome Protein details: P15884

    TCF4 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for TCF4
    OriGene Protein Over-expression Lysate for TCF4
    OriGene MassSpec for TCF4
    OriGene Custom Protein Services for TCF4
    GenScript Custom Purified and Recombinant Proteins Services for TCF4
    Novus Biologicals TCF4 Protein
    Novus Biologicals TCF4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    TCF4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TCF4
    Browse R&D Systems for Antibodies
    OriGene Antibodies for TCF4
    OriGene Custom Antibody Services for TCF4
    Novus Biologicals TCF4 Antibodies
    Abcam antibodies for TCF4
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for TCF4
    LSBio Antibodies in human, mouse, rat for TCF4

    TCF4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TCF4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TCF4
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 P15884

    ProtoNet protein and cluster: P15884

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

    UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
    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


    TCF4 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: ITF2_HUMAN, P15884
    Function: Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the
    initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to
    the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By
    similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'

         Genatlas biochemistry entry for TCF4:
    transcription factor 4,with several alternatively spliced isoforms

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding ISS8978694
    GO:0001011sequence-specific DNA binding RNA polymerase recruiting transcription factor activity ISS8978694
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS8978694
    GO:0001087TFIIB-class binding transcription factor activity ISS8978694
    GO:0001093TFIIB-class transcription factor binding ISS8978694
         
    TCF4 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for TCF4:
     Increased cell death HMECs cel  Increased viability with TRAIL  Wnt reporter downregulated 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tcf4):
     cellular  craniofacial  growth/size/body  hearing/vestibular/ear  hematopoietic system 
     immune system  limbs/digits/tail  mortality/aging  nervous system  skeleton 

    TCF4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TCF4: Tcf4tm1Zhu Tcf4tm1.1Hmb

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TCF4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TCF4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TCF4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TCF4

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for TCF4 (see all 562):
    AASDH,  ABCA7,  ACR,  ACTBL2,  AFAP1L1,  AGAP4,  AGAP7,  AGAP8,  AGBL3,  AGBL4

    miRNA
    Products:
        
    miRTarBase miRNAs that target TCF4:
    hsa-let-7e-5p (MIRT051694), hsa-mir-19b-3p (MIRT031229), hsa-mir-204-5p (MIRT005846), hsa-mir-130b-3p (MIRT020336)

    Block miRNA regulation of human, mouse, rat TCF4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TCF4 (see all 187):
    hsa-miR-193a-3p hsa-miR-106a hsa-miR-4305 hsa-miR-605 hsa-miR-128 hsa-miR-138-2* hsa-miR-519a hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TCF4
    Predesigned siRNA for gene silencing in human, mouse, rat TCF4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TCF4

    Clone
    Products:
         
    OriGene clones in human, mouse for TCF4 (see all 11)
    OriGene ORF clones in mouse, rat for TCF4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TCF4 (NM_001083962)
    Sino Biological Human cDNA Clone for TCF4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCF4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TCF4
    Browse ESI BIO Cell Lines and PureStem Progenitors for TCF4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4


    (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
    ITF2_HUMAN, P15884: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA1681116
    GO:0005667transcription factor complex ISS8978694

    TCF4 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 TCF4 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1ERK Signaling
    MAPK Signaling0.58
    ILK Signaling0.49
    Molecular Mechanisms of Cancer0.51
    2CDO in myogenesis
    CDO in myogenesis1.00
    Myogenesis1.00
    3Human Embryonic Stem Cell Pluripotency
    Factors Promoting Cardiogenesis in Vertebrates0.50
    Human Embryonic Stem Cell Pluripotency0.50
    4L1CAM interactions
    Developmental Biology0.63
    5Non-Canonical Wnt Pathway
    Canonical Wnt Pathway0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TCF4 (see all 10)
        MAPK Signaling
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    Colorectal Cancer Metastasis
    Glioblastoma Multiforme

    5 BioSystems Pathways for TCF4
        Neural Crest Differentiation
    Wnt Signaling Pathway NetPath
    Corticotropin-releasing hormone
    Coregulation of Androgen receptor activity
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    1 Sino Biological Pathway for TCF4
        Canonical Wnt Pathway

    1 Reactome Pathway for TCF4
        CDO in myogenesis



    TCF4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TCF4: 
              WNT Signaling Targets in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Liver Cancer in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TCF4

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

    Selected Interacting proteins for TCF4 (P158841, 2, 3 ENSP000003464404) via UniProtKB, MINT, STRING, and/or I2D (see all 125)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNNB1P352221, 2, 3, ENSP000003444564EBI-533224,EBI-491549 MINT-8399030 MINT-8398882 MINT-8398896 MINT-8398917 MINT-4508268 MINT-8398937 MINT-8398969 MINT-8398862 MINT-4508065 I2D: score=7 STRING: ENSP00000344456
    FERMT2Q96AC11, 2EBI-533224,EBI-4399465 MINT-8398937 MINT-8399030 MINT-8398862 MINT-8398882 MINT-8398896 MINT-8398917 MINT-8398954
    ASCL1P505531, 3, ENSP000002667444EBI-533224,EBI-957042 I2D: score=4 STRING: ENSP00000266744
    DAXXQ9UER73, ENSP000002660004I2D: score=2 STRING: ENSP00000266000
    ENSG00000206206Q9UER73I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0006352DNA-templated transcription, initiation ISS8978694
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006367transcription initiation from RNA polymerase II promoter ISS8978694
    GO:0045666positive regulation of neuron differentiation ISS--

    TCF4 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 TCF4 (ITF2)

    2 Novoseek inferred chemical compound relationships for TCF4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mononucleotide 48.4 3 10918391 (2)
    glycogen 32 2 12603528 (1), 14687479 (1)



    TCF4 for compounds           About GeneDecksing



    (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 TCF4 gene (12 alternative transcripts): 
    NM_001083962.1  NM_001243226.2  NM_001243227.1  NM_001243228.1  NM_001243230.1  NM_001243231.1  NM_001243232.1  NM_001243233.1  
    NM_001243234.1  NM_001243235.1  NM_001243236.1  NM_003199.2  

    Unigene Cluster for TCF4:

    Transcription factor 4
    Hs.605153  [show with all ESTs]
    Unigene Representative Sequence: NM_001083962
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 48):
    ENST00000356073 ENST00000568673 ENST00000457482 ENST00000543082 ENST00000540999
    ENST00000537578 ENST00000564999 ENST00000568740 ENST00000562680 ENST00000537856
    ENST00000544241 ENST00000561992 ENST00000561831 ENST00000565018 ENST00000570287
    ENST00000564228 ENST00000567880 ENST00000566286
    miRNA
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    Block miRNA regulation of human, mouse, rat TCF4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TCF4 (see all 187):
    hsa-miR-193a-3p hsa-miR-106a hsa-miR-4305 hsa-miR-605 hsa-miR-128 hsa-miR-138-2* hsa-miR-519a hsa-miR-200b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TCF4
    Predesigned siRNA for gene silencing in human, mouse, rat TCF4
    Clone
    Products:
         
    OriGene clones in human, mouse for TCF4 (see all 11)
    OriGene ORF clones in mouse, rat for TCF4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TCF4 (NM_001083962)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TCF4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TCF4
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TCF4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TCF4
      QuantiTect SYBR Green Assays in human, mouse, rat TCF4
      QuantiFast Probe-based Assays in human, mouse, rat TCF4

    Additional mRNA sequence: 

    AB209741.1 AK021980.1 AK026674.1 AK095041.1 AK095066.1 AK096862.1 AK122765.1 AK299169.1 
    AK300038.1 AK300612.1 AK300636.1 AK301144.1 AK315074.1 AK316165.1 BC031056.1 BC125084.1 
    BC125085.1 FR748202.1 FR748203.1 FR748205.1 FR748207.1 FR748208.1 FR748209.1 FR748210.1 
    FR748211.1 FR748212.1 FR748213.1 FR748214.1 FR748215.1 FR748216.1 FR748217.1 FR748218.1 
    FR748219.1 FR748220.1 FR748221.1 FR748222.1 FR748223.1 M74718.1 M74719.1 M74720.1 
    X52079.1 

    Selected DOTS entries (see all 47):

    DT.448128  DT.86840324  DT.100892351  DT.100806486  DT.121101533  DT.100892349  DT.95169893  DT.100808993 
    DT.441773  DT.95292982  DT.121101581  DT.95169897  DT.121101588  DT.87079130  DT.100789378  DT.75148455 
    DT.75182387  DT.100892345  DT.100789379  DT.100753719  DT.75169556  DT.100892346  DT.40115779  DT.92447456 

    Selected AceView cDNA sequences (see all 512):

    CR604143 AI359999 BI753610 AA287097 BM787123 BU948052 AI589166 AW612439 
    CA312686 AI003998 AU120273 BP348534 BM669373 AA837089 BQ882546 AI638194 
    BQ706300 AI362674 CA776803 AA287187 AI090983 AU118026 AA677237 AA290666 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TCF4 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a ·
    SP1:                                -                 -           -     -     -                 -                                               -               
    SP2:                                -                 -           -     -     -                 -                                               -               
    SP3:                                                  -           -     -     -                 -                                               -               
    SP4:                                                              -     -     -                 -                                               -               
    SP5:                                                                                                                                            -               

    ExUns: 22b ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b ^ 26 ^ 27a · 27b
    SP1:                          -     -                           
    SP2:                                -                           
    SP3:                          -     -                           
    SP4:                                -                           
    SP5:                                                            


    ECgene alternative splicing isoforms for TCF4

    (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 Genevestigator, and/or 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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    TCF4 expression in normal human tissues (normalized intensities)      TCF4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACAGATGT
    TCF4 Expression
    About this image


    TCF4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Mature B-Cells Peripheral Blood
             Peripheral blood-derived hematopoietic stem cells (family)
     
     Tendon & Ligament
             Cranial Tendons Cells Branchial Arch 1
     
     Mesoderm (Gastrulation Derivatives)
             Limb Bud Mesenchyme Cells Limb Bud
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             nGnG Amacrine Cells Inner Nuclear Layer
    TCF4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TCF4 Protein Expression

    Genevestigator expression for TCF4

    SOURCE GeneReport for Unigene cluster: Hs.605153

    UniProtKB/Swiss-Prot: ITF2_HUMAN, P15884
    Tissue specificity: Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung.
    In developing embryonic tissues, expression mostly occurs in the brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TCF4: 
              WNT Signaling Targets in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Liver Cancer in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for TCF4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TCF4
    QuantiTect SYBR Green Assays in human, mouse, rat TCF4
    QuantiFast Probe-based Assays in human, mouse, rat TCF4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCF4

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for TCF4 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcf41 , 5 transcription factor 41, 5 92.64(n)1
    98.2(a)1
      18 (43.23 cM)5
    214131  NM_013685.21  NP_038713.11 
     693441465 
    chicken
    (Gallus gallus)
    Aves TCF46
    transcription factor 4
    81(a)
    1 ↔ 1
    Z(21-138234)
    lizard
    (Anolis carolinensis)
    Reptilia TCF46
    transcription factor 4
    95(a)
    1 ↔ 1
    GL343213.1(524011-985687)
    African clawed frog
    (Xenopus laevis)
    Amphibia CF342043.12   -- 80.67(n)    CF342043.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01109624.16
    tcf46
    transcription factor 4
    78(a)
    77(a)
    1 ↔ many
    1 ↔ many
    21(1794705-1800202) ENSDARG00000075546
    21(1602919-1689003) ENSDARG00000087652
    fruit fly
    (Drosophila melanogaster)
    Insecta da3 oogenesis transcription factor 78(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea hlh-26
    Protein HLH-2, isoform a (hlh-2) mRNA, complete cd...
    24(a)
    1 → many
    I(7190848-7193916) WBGene00001949


    ENSEMBL Gene Tree for TCF4 (if available)
    TreeFam Gene Tree for TCF4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for TCF4 gene
    TCF122  TCF32  
    Selected SIMAP similar genes for TCF4 using alignment to 31 protein entries:     ITF2_HUMAN (see all proteins) (see all similar genes):
    EML2    HOOK2    VPS33A    ZNF814    CRCP    ZNF546
    DCTN5    DNAPTP3    TCF12    SH3PXD2A    UBIAD1    ZNF212
    C4orf21    LAMB4    ZNF283    ZNF527    PLEKHH2    APOPT1

    TCF4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for TCF4 (see all 6944)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0668414
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0668412 R H mis40--------
    VAR_0668404
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0668402 R P mis40--------
    VAR_0669734
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669732 R P mis40--------
    VAR_0586334
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0586332 R G mis40--------
    VAR_0347044
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0347042 R Q mis40--------
    VAR_0669724
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669722 R H mis40--------
    VAR_0586324
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0586322 D G mis40--------
    VAR_0669744
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669742 A P mis40--------
    VAR_0669714
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669712 R Q mis40--------
    VAR_0347054
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0347052 R W mis40--------
    VAR_0668394
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0668392 G V mis40--------
    VAR_0586344
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0586342 A V mis40--------
    VAR_0669704
    Pitt-Hopkins syndrome (PTHS)4--see VAR_0669702 R W mis40--------
    rs111522911,2
    C,F,H--49598730(+) GCAGAG/ACATGA 12 -- ds500117Minor allele frequency- A:0.16NS EA NA WA 2334
    rs1910070781,2
    --49598793(+) CAGCAC/TACTAG 12 -- ds50010--------
    rs1506917741,2
    --49598794(+) AGCACA/TCTAGT 12 -- ds50010--------
    rs1169598291,2
    C,F--49598843(+) ACACAT/AGAAAT 12 -- ds50011Minor allele frequency- A:0.04NA 120
    rs1399903911,2
    --49598848(+) TGAAAC/TTTCTT 12 -- ds50010--------
    rs1823407401,2
    --49598926(+) ATGAAA/TGGACC 12 -- ds50010--------
    rs1874174201,2
    --49598939(+) ATTATA/GAGGCT 12 -- ds50010--------
    rs1498141291,2
    --49599053(+) TTTAAA/CTTCCC 12 -- ds50010--------
    rs1914331571,2
    --49599163(+) CACAGG/TCACAT 12 -- ds50010--------
    rs750908421,2
    C,F--49599560(+) CTACCG/ACGGGC 12 -- ut311Minor allele frequency- A:0.02EA 120
    rs1447944861,2
    --49599570(+) CTTTCC/TTTTAC 12 -- ut310--------
    rs12610851,2
    C,F,O,A,H--49599630(-) TGCAAA/GATTTG 12 -- ut3133Minor allele frequency- G:0.42MN NA NS EA WA CSA 3494
    rs12610841,2
    C,F,A,H--49599823(-) CTACAT/CCCGCC 12 -- ut3121Minor allele frequency- C:0.40MN EA NS NA WA CSA 3386
    rs1403686991,2
    C--49599910(+) AAATCA/GTCTTA 12 -- ut310--------
    rs1837507971,2
    --49600136(+) CATCCC/TGTTCC 12 -- ut310--------
    rs12610831,2
    F--49600217(-) AAACAT/CACAAA 12 -- ut311Minor allele frequency- C:0.00MN 184
    rs1869193871,2
    --49600254(+) ACACTG/TGGAAA 12 -- ut310--------
    rs782481091,2
    F--49600308(+) ATATGA/GACAAT 12 -- ut310--------
    rs1166139241,2
    C,F--49600399(+) TTCATC/TGAATA 12 -- ut311Minor allele frequency- T:0.02WA 118
    rs615248341,2
    C--49600492(+) GGACAC/GTTCTA 12 -- ut310--------
    rs613824401,2
    C--49600610(+) TTTTT-/CT/TC 
            
    TTTTT
    24 -- ut310--------
    rs1448003921,2
    C--49600621(+) AACAA-/TTTTTT 12 -- ut310--------
    rs1902358461,2
    --49600671(+) AAATTG/TCCCCG 12 -- ut310--------
    rs1821714821,2
    --49600841(+) TCTACA/GAAGAA 12 -- ut310--------
    rs1404401031,2
    C--49600867(+) GACAA-/TTTTTT 12 -- ut310--------
    rs355555221,2
    C--49600947(+) TTTAG-/TTTTTT 12 -- ut310--------
    rs1868172811,2
    --49600991(+) TATAGC/TAAAAG 12 -- ut310--------
    rs668072881,2
    C--49601059(+) TCTGC-/TTTTTT 12 -- ut311Minor allele frequency- T:0.00CSA 2
    rs1927197791,2
    --49601180(+) GCAAAA/GCCAGC 12 -- ut310--------
    rs1854029571,2
    --49601438(+) TGCCTA/GTTGGA 12 -- ut310--------
    rs1475483241,2
    C--49601510(+) CCCTC-/AATCAA 12 -- ut310--------
    rs1113024181,2
    C,F--49601532(+) CAAATT/AAAAAA 12 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1509983141,2
    --49601646(+) GTTCCC/TTGCAG 12 -- ut310--------
    rs1928500801,2
    --49601660(+) CACAGA/TAGACA 12 -- ut310--------
    rs1408894701,2
    --49601954(+) ACACAC/TTAAAA 12 -- ut310--------
    rs766400611,2
    C,F--49601978(+) TTTTTT/CTCTTT 12 -- ut311Minor allele frequency- C:0.03NA 120
    rs1501315101,2
    C--49602072(+) TGGCCA/GTTAGA 12 -- ut310--------
    rs1846497721,2
    --49602082(+) AATTTC/TCACTT 12 -- ut310--------
    rs1467327381,2
    --49602181(+) TCTGAC/GTGAGA 12 -- ut310--------
    rs1504987251,2
    C--49602225(+) AAATG-/ACTACAAT 12 -- cds10--------
    rs1886235671,2
    --49602241(+) CTTTTC/TTGCTT 12 -- ut310--------
    rs1403564631,2
    C--49602269(+) AACTTC/TAATTC 12 -- ut310--------
    rs1456833811,2
    --49602345(+) CAGGGA/GGTGTT 12 -- ut310--------
    rs1383672431,2
    --49602375(+) AACACC/TGTATT 12 -- ut310--------
    rs1178743021,2
    F--49602376(+) ACACCG/ATATTT 12 -- ut311Minor allele frequency- A:0.01NA 120
    rs1919248641,2
    --49602516(+) ACATAC/TGGAGG 12 -- ut310--------
    rs1837750221,2
    --49602517(+) CATACA/GGAGGG 12 -- ut310--------
    rs1495501051,2
    --49602606(+) TCTTTA/GTTCAT 12 -- ut310--------
    rs1881148911,2
    C--49602735(+) TTTTAC/TCGCTA 12 -- ut310--------
    rs2015951581,2
    --49602913(+) CACAG-/TTTTTT 12 -- ut310--------
    rs1419704611,2
    C--49602918(+) AAAAA-/ACAAAA 12 -- ut310--------
    rs1179131941,2
    C,F--49603026(+) TTTGCC/TATTTG 12 -- ut311Minor allele frequency- T:0.03EA 120
    rs1809574041,2
    C--49603040(+) CATAAA/CATTTA 12 -- ut310--------
    rs1870633081,2
    --49603130(+) ATTTAC/GTCAGT 12 -- ut310--------
    rs1907385991,2
    --49603353(+) AAGCTA/GGCTAT 12 -- ut310--------
    rs1457123201,2
    C--49603589(+) TTTTG-/AAAAAA 12 -- ut310--------
    rs1141033611,2
    C,F--49603748(+) ACTTCG/AGCTAC 12 -- ut311Minor allele frequency- A:0.02WA 118
    rs2014469351,2
    C--49603787(+) TTAAAC/TCNNNN 12 -- ut310--------
    rs2003230491,2
    C--49603789(-) GGCTGG/TGATTT 12 -- ut310--------
    rs1432424301,2
    C--49604020(+) ACTTTC/TTACTT 12 -- ut310--------
    rs1816706681,2
    --49604097(+) TGGCAA/CTACAG 12 -- ut310--------
    rs17994101,2
    C--49604123(+) CAGGGA/GAAGGG 12 -- ut312Minor allele frequency- G:0.02MN NA 186
    rs1996260821,2
    C--49604141(+) TAAGAA/CCAAAA 12 -- ut310--------
    rs2006705591,2
    C--49604142(+) AAGACA/CAAAAA 12 -- ut310--------
    rs1860180551,2
    --49604221(+) AGAAAA/TAAGTC 12 -- ut310--------
    rs1483678221,2
    --49604380(+) CAGGAC/TGTTTG 12 -- ut310--------
    rs1150393891,2
    C,F--49604478(+) GTTCAT/CGTAGT 12 -- ut311Minor allele frequency- C:0.05WA 118
    rs2012422451,2
    --49604734(+) CTTTC-/TTTTTT 12 -- ut310--------
    rs1415860281,2
    C--49604835(+) TGGGGC/GTTAAG 12 -- ut310--------
    rs1119477831,2
    C,F--49604876(+) CAGCTG/TTTAAG 12 -- ut311Minor allele frequency- T:0.50NA 2
    rs1900895581,2
    --49604894(+) TCTCTA/TGTTTT 12 -- ut310--------
    rs1823726081,2
    --49604907(+) TGAAGC/TAATGT 12 -- ut310--------
    rs1400656161,2
    --49604973(+) TAACAG/TAAAAA 12 -- int10--------
    rs1998268161,2
    C--49604984(+) TATGC-/TTTTTT 12 -- int10--------
    rs1159060791,2
    F--49604986(+) ATGCTT/CTTTTT 12 -- int11Minor allele frequency- C:0.12WA 118
    rs2007185771,2
    C--49604991(+) TTTTT-/AAAAAA 12 -- int10--------
    rs1855075821,2
    --49604992(+) TTTTTA/TAAAAA 12 -- int10--------
    rs1906473551,2
    --49605056(+) ATGGCC/TGATAC 12 -- int10--------
    rs2004874601,2
    --49605075(+) GAGTTC/TTGAAT 12 -- int10--------
    rs65672101,2
    C,F,A,H--49605081(+) TGAATG/AATCGA 12 -- int116Minor allele frequency- A:0.09NS EA NA WA EU 3195
    rs87661,2
    C,F--49605194(-) TCCTCA/GGAGCC 24 S syn1 ese312Minor allele frequency- G:0.37MN NA WA CSA EA EU 6676
    rs769569361,2
    C--49605212(+) TCTTCC/TTCCCT 24 E syn12Minor allele frequency- T:0.00NA EU 1443
    rs1511506771,2
    C,F--49605230(+) AGACAC/TGCAGC 24 A syn11Minor allele frequency- T:0.00NA 4550
    rs2000964081,2
    --49605239(+) GCTTTC/TGGATT 24 P syn10--------
    rs102213621,2
    C--49605320(+) CAATGC/TACTCT 12 -- int14Minor allele frequency- T:0.24CSA WA NA EA 360
    rs1886915841,2
    --49605331(+) TCTTGC/GGTGTC 12 -- int10--------
    rs1932887631,2
    --49605359(+) TTTATA/GTTACA 12 -- int10--------
    rs1440333701,2
    C--49605387(+) ACTAAA/GTACTG 12 -- int10--------
    rs111522941,2
    C,F--49605525(+) AGTTGC/TAATAT 12 -- int13Minor allele frequency- T:0.17WA CSA 122
    rs1473782141,2
    --49605549(+) AGAGAA/CTCCCA 12 -- int10--------
    rs1830137951,2
    --49605621(+) ACAATC/TCTTTG 12 -- int10--------
    rs1876792281,2
    --49605627(+) CTTTGC/GAATGA 12 -- int10--------
    rs80875691,2
    C,F--49605663(+) TGCTCA/GAGACT 12 -- int13Minor allele frequency- G:0.15WA NA 240
    rs80875701,2
    C,F--49605666(+) TCAAGA/GCTGGC 12 -- int13Minor allele frequency- G:0.15WA NA 240
    rs1390961381,2
    --49605672(+) CTGGCA/GTGCCC 12 -- int10--------
    rs1142159101,2
    C,F--49605709(+) CCTCAC/TGAGCT 12 -- int11Minor allele frequency- T:0.03WA 118
    rs1400780861,2
    F--49605754(+) TGCTGC/TTCCAG 24 E syn11Minor allele frequency- T:0.00NA 4550
    rs1440684621,2
    F--49605916(+) CTCCGC/TTCCTT 24 E syn11Minor allele frequency- T:0.00NA 4552
    rs1921771781,2
    --49606164(+) ATTTGA/GTTTTC 12 -- int10--------
    rs22761951,2
    C,F,O,A,H--49606172(-) GTCTGC/TGAGAA 12 -- int125Minor allele frequency- T:0.31EA NS NA CSA WA 4196
    rs1840140971,2
    --49606255(+) AGGGGA/GGCAGA 12 -- int10--------
    rs413394451,2
    C,F,H--49606293(-) TGTAAC/ACCCAT 12 -- int116Minor allele frequency- A:0.10NA NS EA WA 2046
    rs761143891,2
    C--49606327(+) ACTTAC/TGCCTA 12 -- int10--------
    rs1922252851,2
    --49606351(+) AACCAC/TGCTTC 12 -- int10--------
    rs1846112251,2
    --49606445(+) GTAATC/TGAAAA 12 -- int10--------
    rs1903434731,2
    --49606508(+) AAGGCA/CTATAT 12 -- int10--------
    rs1825872591,2
    --49606534(+) AATGGA/GAGTGA 12 -- int10--------
    rs1126750111,2
    F--49606776(+) GACCAC/TGACCT 12 -- int11Minor allele frequency- T:0.00CSA 1
    rs597707441,2
    C,F--49606849(+) CTGGAC/TGATAT 12 -- int13Minor allele frequency- T:0.15WA NA 240
    rs1862665951,2
    --49606865(+) GACCTC/TGTCTC 12 -- int10--------
    rs346601841,2
    C--49607051(+) AAAAA-/AAAAAA 12 -- int11Minor allele frequency- A:0.50NA 2
    rs729250081,2
    C--49607122(+) ATGCAT/CGGCCG 12 -- int14Minor allele frequency- C:0.28CSA WA NA EA 360
    rs1887802611,2
    --49607156(+) AAGATC/TGGTTC 12 -- int10--------
    rs1815906391,2
    --49607174(+) TTCTGA/GGTGTT 12 -- int10--------
    rs1853579951,2
    --49607316(+) AGTGTA/GCACGA 12 -- int10--------
    rs569975931,2
    C,F--49607319(+) GTGCAC/TGACGT 12 -- int13Minor allele frequency- T:0.15WA NA 240
    rs767747001,2
    F--49607320(+) TGCACG/AACGTC 12 -- int11Minor allele frequency- A:0.03WA 118
    rs776068991,2
    F--49607322(+) CACGAC/TGTCTT 12 -- int11Minor allele frequency- T:0.03WA 118
    rs1486840091,2
    --49607337(+) CAAGAA/GGGCAG 12 -- int10--------
    rs788576631,2
    F--49607361(+) ATAAAG/ACTCTG 12 -- int11Minor allele frequency- A:0.01NA 120
    rs1915383361,2
    --49607502(+) TAACCC/TAAAGG 12 -- int10--------
    rs574570591,2
    C,F--49607519(+) TCACAC/TATTGG 12 -- int13Minor allele frequency- T:0.15WA NA 240
    rs1825177011,2
    --49607564(+) ATTTCA/GGAGTT 12 -- int10--------
    rs1862530791,2
    --49607714(+) CTCCAA/GTCAAT 12 -- int10--------
    rs80942731,2
    C,F,H--49607743(+) TCTTCG/AGTTGC 12 -- int115Minor allele frequency- A:0.05NS EA NA WA 1638
    rs1422103251,2
    --49607754(+) AAGTAC/TACGTT 12 -- int10--------
    rs414783531,2
    C,F--49607791(+) AAGAAC/TACTTG 12 -- int16Minor allele frequency- T:0.15NA WA 252
    rs1403371471,2
    --49607848(+) ATGCTG/TTAAGA 12 -- int10--------
    rs133818171,2
    C,F,H--49607882(+) GTAAGC/TGCCTT 12 -- int19Minor allele frequency- T:0.04NS EA NA 978
    rs1454534261,2
    --49608016(+) CCAGTA/GCCAAG 12 -- int10--------
    rs1919611301,2
    --49608110(+) CTGTCC/GGGAAG 12 -- int10--------
    rs129662601,2
    C,F--49608494(+) AAATCC/TCCTCC 12 -- int1 trp34Minor allele frequency- T:0.04NA EA 244
    rs734870081,2
    C,F--49608537(+) GAAAAA/CGACAA 12 -- int13Minor allele frequency- C:0.15WA NA 240
    rs1832261021,2
    --49608725(+) GACAAC/TTGGTT 12 -- int10--------
    rs1162786341,2
    C,F--49608776(+) GTACAC/TGGGTG 12 -- int11Minor allele frequency- T:0.01WA 118
    rs803186711,2
    F--49608794(+) TCAAAA/CACCAT 12 -- int11Minor allele frequency- C:0.06WA 118
    rs1879413831,2
    --49608870(+) AACCAA/GACAGA 12 -- int10--------
    rs1465645411,2
    --49608955(+) ACTCTA/TATATA 12 -- int10--------
    rs749992481,2
    F--49608962(+) TATACA/CTCAGC 12 -- int11Minor allele frequency- C:0.08WA 118
    rs1905139711,2
    --49609107(+) GACCAA/CATTTG 12 -- int10--------
    rs1175861021,2
    C,F--49609141(+) TAAACT/CGTACT 12 -- int11Minor allele frequency- C:0.02NA 120
    rs1831218941,2
    --49609207(+) AAATGC/TCAAAA 12 -- int10--------
    rs1408622521,2
    C--49609501(+) CCCTCG/ATCATC 24 /D syn11Minor allele frequency- A:0.00NA 4550
    rs1879093051,2
    C--49609609(+) ATCTCA/GCTGCC 12 -- int10--------
    rs22722851,2
    H--49609697(-) ACAGAT/CAGCAG 12 -- int15Minor allele frequency- C:0.01EA NS 1904
    rs1929897311,2
    --49610072(+) TACATA/GTGGAA 12 -- int10--------
    rs1843336371,2
    --49610164(+) CCTAAC/TGTAGT 12 -- int10--------
    rs1501850541,2
    --49610393(+) AAGAGA/GGCAAA 12 -- int10--------
    rs80900851,2
    C,F,A--49610434(+) GCCAGT/GTGTGG 12 -- int18Minor allele frequency- G:0.38NA WA CSA EA 368
    rs1386999711,2
    --49610461(+) TCCCAG/TCACTT 12 -- int10--------
    rs1876895671,2
    --49610556(+) AATACA/GAAAAA 12 -- int10--------
    rs1913163001,2
    --49610632(+) CGCTTA/GAACCT 12 -- int10--------
    rs1845740431,2
    --49610669(+) GATCGA/CACCAC 12 -- int10--------
    rs729250101,2
    C,F--49610776(+) ACCCAT/CACATA 12 -- int11Minor allele frequency- C:0.03NA 120
    rs1894114301,2
    --49610874(+) ATGTGA/TAGGGA 12 -- int10--------
    rs1814652881,2
    --49610969(+) CACCGC/GTATGA 12 -- int10--------
    rs1854304231,2
    --49610991(+) GAGGGA/CTAGAT 12 -- int10--------
    rs793658531,2
    C--49611044(+) ATGCAA/CCTATA 12 -- int10--------
    rs1895392571,2
    --49611165(+) GGAAAC/TAGCTA 12 -- int10--------
    rs1815997181,2
    --49611224(+) AGGACC/TAGGAT 12 -- int10--------
    rs1471115211,2
    --49611246(+) TTTGAA/GGAAAA 12 -- int10--------
    rs414836471,2
    C,F,H--49611270(+) AACACA/GATTAG 12 -- int123Minor allele frequency- G:0.10NS EA NA WA 2726
    rs1385938761,2
    --49611281(+) CGGGCA/GAAGTT 12 -- int10--------
    rs1863696731,2
    --49611297(+) TACTTG/TGCCAT 12 -- int10--------
    rs3734576491,2
    C--49611428(+) CCTGGC/TGAGGC 12 -- int10--------
    rs1439447461,2
    C,F--49611509(+) GGAACC/GGGAAC 24 P syn12Minor allele frequency- G:0.00NA EU 5567
    rs1385701241,2
    C--49611574(+) GGTCCC/TCACCT 24 R G mis11Minor allele frequency- T:0.00NA 4552
    rs2009634181,2
    C,F--49611596(+) AGGAAC/TCAGAG 12 -- int11Minor allele frequency- T:0.00EU 849
    rs1473018541,2
    C--49611599(+) AACCAC/GAGAGG 12 -- int10--------
    rs768184971,2
    C,F--49611616(+) GGAACC/AGGAGG 12 -- int11Minor allele frequency- A:0.02WA 118
    rs1422822641,2
    C--49611657(+) CTGAT-/GAAG  
            
    GAAGG
    12 -- int10--------
    rs1809385841,2
    --49611689(+) TCCCAA/GACGCG 12 -- int10--------
    rs1484203351,2
    --49611730(+) TGCACC/GTATAG 12 -- int10--------
    rs1416957041,2
    --49611753(+) ACACTC/TAACAC 12 -- int10--------
    rs1863590741,2
    --49611856(+) GGAGCC/GCACTG 12 -- int10--------
    rs1911618481,2
    --49611857(+) GAGCGC/TACTGA 12 -- int10--------
    rs1829958261,2
    --49611968(+) CGGAAA/GTCCTA 12 -- int10--------
    rs568282041,2
    C,F--49612233(+) TGCCAC/ACACAC 12 -- int14Minor allele frequency- A:0.15WA CSA NA 242
    rs592311911,2
    C,F--49612346(+) TCTGAC/TCCTAG 12 -- int13Minor allele frequency- T:0.17CSA WA NA 240
    rs72372591,2
    C,F,A,H--49612548(+) AACATG/CAAGCA 12 -- int117Minor allele frequency- C:0.12NS EA NA WA CSA 1970
    rs1888378881,2
    --49612595(+) TCTTTC/TCTATT 12 -- int10--------
    rs1505441611,2
    --49612647(+) CAGGAC/TGGTGG 12 -- int10--------
    rs1394557621,2
    --49612745(+) GGAGAA/CTCATC 12 -- int10--------
    rs12610701,2
    C,F,A,H--49612748(-) AGTGAC/TGATTC 12 -- int130Minor allele frequency- T:0.04NS EA NA WA CSA 2576
    rs1432104151,2
    --49612789(+) TTTCCA/GAAGAA 12 -- int10--------
    rs1462585001,2
    --49612831(+) AAATTC/GACAGG 12 -- int10--------
    rs1125802621,2
    C--49612964(+) GTGCATGTG/-  
            
    TGTGT
    12 -- int11Minor allele frequency- -:0.50CSA 2
    rs1491577801,2
    --49612964(+) GTGCA-/TGTGTG
            
    TGTGT
    12 -- int10--------
    rs1915864901,2
    --49613081(+) GACAAC/TACTTG 12 -- int10--------
    rs734870181,2
    C,F--49613171(+) GTGTCG/TCAACA 12 -- int14Minor allele frequency- T:0.15WA CSA NA 242
    rs1831032141,2
    --49613198(+) GTGGTC/TATTTG 12 -- int10--------
    rs1166313351,2
    F--49613248(+) TCCCAA/GAGAAG 12 -- int11Minor allele frequency- G:0.04WA 118
    rs734870201,2
    C,F--49613263(+) TTCCAT/GTTTTA 12 -- int14Minor allele frequency- G:0.17WA CSA NA 242
    rs734870221,2
    C,F--49613335(+) GTGGCG/ATTAAG 12 -- int14Minor allele frequency- A:0.15WA CSA NA 242
    rs734870231,2
    C,F--49613345(+) GTACAA/GACCTT 12 -- int14Minor allele frequency- G:0.16WA CSA NA 242
    rs796952321,2
    C,F--49613440(+) ACCACG/ACCCAC 12 -- int11Minor allele frequency- A:0.02NA 120
    rs72384931,2
    C,F--49613468(+) TGTAAC/TTCACT 12 -- int11Minor allele frequency- T:0.03WA 118
    rs105159691,2
    C,F,H--49613477(+) CTCTCT/CTATAT 12 -- int196Minor allele frequency- C:0.07NS EA NA PA EU CA WA CSA 5810
    rs569707821,2
    C,F--49613626(+) TTTTAC/TAGGCC 12 -- int12Minor allele frequency- T:0.05WA 120
    rs1880409981,2
    --49613630(+) ACAGGC/TCTTGA 12 -- int10--------
    rs1911689581,2
    --49613805(+) AGAAGG/TGTACT 12 -- int10--------
    rs1430383301,2
    C--49613832(+) TAACA-/CTCTCAA 12 -- int10--------
    rs1162293991,2
    C,F--49613885(+) TTTTGC/TTTTTT 12 -- int11Minor allele frequency- T:0.12WA 118
    rs557559411,2
    C--49613972(+) AAAGAG/AAACCC 12 -- int14Minor allele frequency- A:0.25NA WA EA 360
    rs1394182011,2
    C--49614186(+) CTATAC/TAATGA 12 -- int10--------
    rs1440777131,2
    --49614277(+) TGTTAC/TCTAAC 12 -- int10--------
    rs114090231,2
    C--49614521(+) CCACGC/-CCGGC 12 -- int11Minor allele frequency- -:0.50NA 2
    rs1837265661,2
    C--49614588(+) CCCTCC/TGATAG 12 -- int10--------
    rs1450113301,2
    --49614590(+) CTCTGA/GTAGGT 12 -- int10--------
    rs1490930961,2
    --49614684(+) AATAAC/TTGGCT 12 -- int10--------
    rs1423284071,2
    --49614727(+) ATATTC/GTAACC 12 -- int10--------
    rs1877061421,2
    --49614772(+) TCACAA/TAAGAG 12 -- int10--------
    rs1512846791,2
    C--49614842(+) TAGATA/GGAGAA 12 -- int10--------
    rs1926693131,2
    --49614849(+) AGAAAC/TTCACA 12 -- int10--------
    rs1404439321,2
    C--49614857(+) ACACTA/GTTCTC 12 -- int10--------
    rs1470374451,2
    C--49614863(+) TTCTCC/TGTATA 12 -- int10--------
    rs1385162111,2
    --49614905(+) AAGGCA/GGCCCA 12 -- int10--------
    rs592372991,2
    C,F--49615071(+) TACTTC/TGTTAA 12 -- int13Minor allele frequency- T:0.15WA NA 240
    rs1426521521,2
    --49615081(+) AAGCTC/TTATTT 12 -- int10--------
    rs102213571,2
    C,F--49615188(+) TCACGT/GATAAT 12 -- int16Minor allele frequency- G:0.25NA CSA WA EA 364
    rs1851649991,2
    --49615270(+) ATTGAC/TTGATC 12 -- int10--------
    rs1900636751,2
    --49615272(+) TGATTG/TATCAG 12 -- int10--------
    rs1816881421,2
    --49615385(+) GGTTTC/TTGTGG 12 -- int10--------
    rs12610711,2
    F--49615439(+) TTAGTG/AGGGTA 12 -- int11Minor allele frequency- A:0.00MN 184
    rs1467093641,2
    --49615506(+) ATAAAC/TAGTTT 12 -- int10--------
    rs1388825591,2
    --49615553(+) GAACCA/GAATGC 12 -- int10--------
    rs1494139101,2
    --49615558(+) GAATGC/GCACTC 12 -- int10--------
    rs734870281,2
    C,F--49615636(+) TGCCCT/CCTCAT 12 -- int13Minor allele frequency- C:0.15WA NA 240
    rs1885784961,2
    C--49615681(+) TTGGTG/TCATTC 12 -- int10--------
    rs116619611,2
    C,F,H--49615691(+) CTTTCT/CGGTTC 12 -- int17Minor allele frequency- C:0.25NA CSA WA EA 368
    rs1439475431,2
    --49615742(+) AGCTCA/GGAATG 12 -- int10--------
    rs1809375971,2
    C--49615791(+) CATAGA/GTCATA 12 -- int10--------
    rs116605651,2
    C,F,H--49615832(+) TTTCCC/TGGTCC 12 -- int17Minor allele frequency- T:0.26NA CSA WA EA 366
    rs1851594681,2
    --49615863(+) GGGGGA/GATAAG 12 -- int10--------
    rs1482329771,2
    --49615905(+) TGTCCC/TGTCCA 12 -- int10--------
    rs1910543541,2
    C--49615906(+) GTCCCA/GTCCAC 12 -- int10--------
    rs1414850321,2
    C--49615944(+) TGTCTA/GAGTTA 12 -- int10--------
    rs1461867581,2
    --49616009(+) CCTGTA/GTGAAT 12 -- int10--------
    rs1820853861,2
    --49616021(+) TGTCAA/GTGGAA 12 -- int10--------
    rs1871564121,2
    --49616037(+) TAAATG/TTCATT 12 -- int10--------
    rs1161075711,2
    C,F--49616070(+) ATCACG/ATAAGC 12 -- int11Minor allele frequency- A:0.02WA 118
    rs1163281491,2
    C,F--49616139(+) GTTATA/GTATCA 12 -- int11Minor allele frequency- G:0.02WA 118
    rs1395640511,2
    --49616218(+) CTTTCA/GATGCT 12 -- int10--------
    rs1497311751,2
    C--49616264(+) AACTTA/GCAACA 12 -- int10--------
    rs1457362431,2
    --49616275(+) CTGAAC/TAATTA 12 -- int10--------
    rs1416584211,2
    --49616331(+) CCAGAA/GCTTTT 12 -- int10--------
    rs1403573971,2
    C--49616347(+) AAACA-/GTGTGTG 12 -- int10--------
    rs3694755721,2
    C--49616348(+) AAAAC-/GTTGTGT 12 -- int10--------
    rs616561121,2
    C--49616416(+) ATACGT/CACATA 12 -- int15Minor allele frequency- C:0.26NA CSA WA EA 362
    rs1453324151,2
    --49616428(+) ATAGAC/TAGAGG 12 -- int10--------
    rs605656731,2
    C--49616446(+) TTTCCT/GTTTTC 12 -- int16Minor allele frequency- G:0.35NA WA CSA EA 364
    rs729250181,2
    C,F--49616537(+) GCCACG/AATCCC 12 -- int13Minor allele frequency- A:0.21WA NA EA 358
    rs1920226381,2
    --49616815(+) AATCCC/TAGTTA 12 -- int10--------
    rs72287121,2
    C,F--49616882(+) ATTCTA/CCCATA 12 -- int11Minor allele frequency- C:0.03WA 118
    rs1833381841,2
    --49616903(+) AAGAGC/TATACA 12 -- int10--------
    rs1866512421,2
    --49616919(+) AACTTC/TAGGAA 12 -- int10--------
    rs72403031,2
    C,H--49616975(+) ATATAC/TTATTA 12 -- int13Minor allele frequency- T:0.01NS NA 104
    rs1122694601,2
    C--49617051(+) TAGATT/ATTTTT 12 -- int11Minor allele frequency- A:0.50NA 2
    rs1177164571,2
    F--49617233(+) TGTAAT/GCTCCC 12 -- int11Minor allele frequency- G:0.03EA 120
    rs12610721,2
    F,O,H--49617276(+) AGTACT/CAGATT 12 -- int14Minor allele frequency- C:0.00NS EA 418
    rs12610731,2
    C,F,O,A,H--49617436(+) GAATTA/CGGAAG 12 -- int125Minor allele frequency- C:0.47NS EA NA WA CSA 2578
    rs1822302861,2
    --49617456(+) TGGCAA/GCAGTA 12 -- int10--------
    rs754251551,2
    C,F--49617635(+) TAGTAC/TATGTG 12 -- int11Minor allele frequency- T:0.12WA 118
    rs12610741,2
    C,F,H--49617729(+) ATGTCG/AGGAGA 12 -- int113Minor allele frequency- A:0.17NS EA NA WA CSA 1392
    rs12610751,2
    --49617752(+) TGTCTA/TGAGAA 12 -- int10--------
    rs1143491991,2
    F--49617842(+) TCTTGG/AAGATT 12 -- int11Minor allele frequency- A:0.02WA 118
    rs12610761,2
    C,F,A,H--49617942(+) ATCATG/ATGATC 12 -- int125Minor allele frequency- A:0.38NS EA NA WA CSA 2538
    rs1469005511,2
    --49618067(+) TAACTC/TATACG 12 -- int10--------
    rs729250281,2
    --49618071(+) TCATAC/TGTTCC 12 -- int10--------
    rs1483878531,2
    --49618255(+) GTAGAC/TGGTAT 12 -- int10--------
    rs9487661,2
    C,F--49618402(+) AATGCC/TTGAAG 12 -- int14Minor allele frequency- T:0.21NA WA 124
    rs12610771,2
    --49618472(+) AGTCCA/GGGTGG 12 -- int10--------
    rs1405499231,2
    C--49618544(+) TTTCTC/TGTTAT 12 -- int10--------
    rs1143815531,2
    F--49619028(+) TCCACT/CTTCTT 12 -- int11Minor allele frequency- C:0.02WA 118
    rs756487171,2
    F--49619081(+) AAACAC/TATTCA 12 -- int11Minor allele frequency- T:0.01EA 120
    rs780716321,2
    F--49619164(+)