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GTF2IRD1 Gene

protein-coding   GIFtS: 60
GCID: GC07P073868

GTF2I Repeat Domain Containing 1

(Previous name: GTF2I repeat domain-containing 1)
(Previous symbol: WBSCR11)
  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
GTF2I Repeat Domain Containing 11 2     WBS2 5
WBSCR111 2 3     GTF2I Repeat Domain-Containing 11
GTF32 3 5     BEN2
MUSTRD12 3 5     General Transcription Factor 32
Binding Factor For Early Enhancer1 2     General Transcription Factor II-I Repeat Domain-Containing Protein 12
General Transcription Factor III2 3     hMusTRD1alpha12
Slow-Muscle-Fiber Enhancer-Binding Protein2 3     Muscle TFII-I Repeat Domain-Containing Protein 1 Alpha 12
Williams-Beuren Syndrome Chromosomal Region 12 Protein2 3     Williams-Beuren Syndrome Chromosome Region 112
CREAM12 3     MusTRD1/BEN3
RBAP22 3     GTF2I Repeat Domain-Containing Protein 13
WBSCR122 3     Muscle TFII-I Repeat Domain-Containing Protein 13
USE B1-Binding Protein2 3     Williams-Beuren Syndrome Chromosomal Region 11 Protein3

External Ids:    HGNC: 46611   Entrez Gene: 95692   Ensembl: ENSG000000067047   OMIM: 6043185   UniProtKB: Q9UHL93   

Export aliases for GTF2IRD1 gene to outside databases

Previous GC identifers: GC07P072508 GC07P073266 GC07P073280 GC07P073312 GC07P073506 GC07P069747


(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 GTF2IRD1 Gene:
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential
helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a
transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This
gene plays a role in craniofacial and cognitive development and mutations have been associated with
Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Nov 2010)

GeneCards Summary for GTF2IRD1 Gene:
GTF2IRD1 (GTF2I repeat domain containing 1) is a protein-coding gene. Diseases associated with GTF2IRD1 include tinea cruris, and williams-beuren syndrome. GO annotations related to this gene include RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GTF2I.

UniProtKB/Swiss-Prot: GT2D1_HUMAN, Q9UHL9
Function: May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation.
May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its
transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in
regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high
affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity)

Gene Wiki entry for GTF2IRD1 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_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GTF2IRD1 gene promoter:
         Zic1   ZIC2/Zic2   NF-Y   CBF(2)   Gfi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): GTF2IRD1 promoter sequence
   Search Chromatin IP Primers for GTF2IRD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GTF2IRD1


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

GTF2IRD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GTF2IRD1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P073868:  view genomic region     (about GC identifiers)

Start:
73,868,120 bp from pter      End:
74,016,931 bp from pter
Size:
148,812 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 73,201,192-73,350,003     

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GT2D1_HUMAN, Q9UHL9 (See protein sequence)
Recommended Name: General transcription factor II-I repeat domain-containing protein 1  
Size: 959 amino acids; 106057 Da
Subunit: Interacts with the retinoblastoma protein (RB1) via its C-terminus
Developmental stage: Highly expressed in developing and regenerating muscles, at the time of myofiber
diversification
4 PDB 3D structures from and Proteopedia for GTF2IRD1:
2D99 (3D)        2DN5 (3D)        2DZQ (3D)        2DZR (3D)    
Secondary accessions: O95444 Q6DSU6 Q75MX7 Q86UM3 Q8WVC4 Q9UHK8 Q9UI91
Alternative splicing: 3 isoforms:  Q9UHL9-1   Q9UHL9-2   Q9UHL9-3   (Contains a phosphoserine at position 686)

Explore the universe of human proteins at neXtProt for GTF2IRD1: NX_Q9UHL9

Explore proteomics data for GTF2IRD1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys130, Lys579
  • Modification sites at PhosphoSitePlus

  • See GTF2IRD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186136.1  NP_005676.3  NP_057412.1  

    ENSEMBL proteins: 
     ENSP00000265755   ENSP00000397566   ENSP00000408477   ENSP00000418383   ENSP00000417909  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR016659 TF_II-I
     IPR004212 GTF2I

    Graphical View of Domain Structure for InterPro Entry Q9UHL9

    ProtoNet protein and cluster: Q9UHL9

    1 Blocks protein domain: IPB004212 GTF2I-like repeat

    UniProtKB/Swiss-Prot: GT2D1_HUMAN, Q9UHL9
    Domain: The N-terminal half may have an activating activity
    Similarity: Belongs to the TFII-I family
    Similarity: Contains 5 GTF2I-like repeats


    GTF2IRD1 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: GT2D1_HUMAN, Q9UHL9
    Function: May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation.
    May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its
    transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in
    regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high
    affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity)

         Genatlas biochemistry entry for GTF2IRD1:
    GTF2I repeat domain-containing protein 1,comprising a long and a short isoforms,predominantly expressed in
    skeletal muscle and more in fetal than in adult,highly homolog to mus TRD1,that binds to an enhancer involved in
    the regulation of muscle expression. Also highly homolog and tightly linked to GTF2I. Located in the WBSCR and
    deleted in the syndrome

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS10575229
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity NAS9774679
         
    GTF2IRD1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GTF2IRD1:
     Cell cycle / mitosis defect  Large nuclei 

         15 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Gtf2ird1):
     adipose tissue  behavior/neurological  cardiovascular system  craniofacial  embryogenesis 
     growth/size/body  homeostasis/metabolism  integument  mortality/aging  muscle 
     nervous system  no phenotypic analysis  pigmentation  respiratory system  skeleton 

    GTF2IRD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GTF2IRD1: Gtf2ird1tm1Hrd Gtf2ird1tm1Lro

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GTF2IRD1
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    hsa-miR-3910 hsa-miR-548am hsa-miR-493* hsa-miR-548x hsa-miR-3148 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidGTF2IRD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GTF2IRD1

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    (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
    GT2D1_HUMAN, Q9UHL9: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11438732
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    GTF2IRD1 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 GTF2IRD1 About    
    See pathways by source

    SuperPathContained pathways About
    1Assembly of RNA Polymerase-II Initiation Complex
    Basal transcription factors0.50
    2Influenza A
    Herpes simplex infection0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for GTF2IRD1):
        Basal transcription factors
    Herpes simplex infection


    GTF2IRD1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GTF2IRD1
    Interactions:

        GeneGlobe Interaction Network for GTF2IRD1

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

    Selected Interacting proteins for GTF2IRD1 (Q9UHL92, 3 ENSP000002657554) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110443 I2D: score=3 STRING: ENSP00000361423
    SMAD3P840222, 3, ENSP000003329734MINT-51247 I2D: score=2 STRING: ENSP00000332973
    HDAC3O153793, ENSP000003029674I2D: score=2 STRING: ENSP00000302967
    SMAD2Q157963, ENSP000002621604I2D: score=1 STRING: ENSP00000262160
    USF1P224153, ENSP000003569994I2D: score=1 STRING: ENSP00000356999
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated NAS10575229
    GO:0006357regulation of transcription from RNA polymerase II promoter NAS9774679
    GO:0006366transcription from RNA polymerase II promoter NAS9774679
    GO:0009790embryo development IEA--

    GTF2IRD1 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 GTF2IRD1 (GT2D1)

    1 Novoseek inferred chemical compound relationship for GTF2IRD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 36.5 1 11827466 (1)



    GTF2IRD1 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,
    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 GTF2IRD1 gene (3 alternative transcripts): 
    NM_001199207.1  NM_005685.3  NM_016328.2  

    Unigene Cluster for GTF2IRD1:

    GTF2I repeat domain containing 1
    Hs.647056  [show with all ESTs]
    Unigene Representative Sequence: AB209389
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265755(uc010lbq.3 uc003uap.3 uc003uaq.3) ENST00000455841
    ENST00000424337 ENST00000476977(uc003uar.1) ENST00000489094 ENST00000470715
    ENST00000486086
    miRNA
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    hsa-miR-3910 hsa-miR-548am hsa-miR-493* hsa-miR-548x hsa-miR-3148 hsa-miR-548c-3p
    SwitchGear 3'UTR luciferase reporter plasmidGTF2IRD1 3' UTR sequence
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    Additional mRNA sequence: 

    AB209389.1 AF089107.1 AF104923.1 AF118270.2 AF151354.1 AF156489.1 AK308242.1 AY648295.1 
    BC018136.1 

    11 DOTS entries:

    DT.100785412  DT.443756  DT.315571  DT.97777818  DT.100024263  DT.100785413  DT.100785407  DT.95261573 
    DT.75165741  DT.95291196  DT.428761 

    Selected AceView cDNA sequences (see all 144):

    BU682450 BF850177 AA235707 BM544769 BG828842 AA479001 AL555103 BQ432365 
    BU631226 BQ639001 AF151354 BX281474 NM_005685 AI288994 BQ669257 BC018136 
    AI373368 CR622355 AA481873 BQ920893 NM_016328 AA861553 AI961612 BU631734 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GTF2IRD1 (see all 12)    About this scheme

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

    ExUns: 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for GTF2IRD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GTF2IRD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGACTATG
    GTF2IRD1 Expression
    About this image

    GTF2IRD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GTF2IRD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647056

    UniProtKB/Swiss-Prot: GT2D1_HUMAN, Q9UHL9
    Tissue specificity: Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues.
    Expressed at lower levels in all other tissues tested

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GTF2IRD1

    (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 eukaryotes.

    Orthologs for GTF2IRD1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gtf2ird11 , 5 general transcription factor II I repeat domain-containing more1, 5 84.96(n)1
    88(a)1
      5 (74.55 cM)5
    570801  NM_001081469.21  NP_001074938.11 
     1343576695 
    chicken
    (Gallus gallus)
    Aves GTF2IRD11 GTF2I repeat domain containing 1 73.67(n)
    75.37(a)
      417487  XM_004946435.1  XP_004946492.1 
    lizard
    (Anolis carolinensis)
    Reptilia GTF2IRD16
    GTF2I repeat domain containing 1
    72(a)
    1 ↔ 1
    AAWZ02038293(4175-12206)
    African clawed frog
    (Xenopus laevis)
    Amphibia WBSCR112 Williams-Beuren syndrome critical region 11-like protein 73.27(n)    AF482757.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.280122 Transcribed sequence with moderate similarity to protein more 80.25(n)    57081836 
    rice
    (Oryza sativa)
    Liliopsida BX900451.12   -- 81.8(n)    BX900451.1 


    ENSEMBL Gene Tree for GTF2IRD1 (if available)
    TreeFam Gene Tree for GTF2IRD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GTF2IRD1 gene
    GTF2I2  
    4 SIMAP similar genes for GTF2IRD1 using alignment to 4 protein entries:     GT2D1_HUMAN (see all proteins):
    GTF2IRD2B    GTF2I    GTF2IRD2    LOC402280

    GTF2IRD1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for GTF2IRD1
    PGOHUM00000232854 PGOHUM00000233391 PGOHUM00000233436


    (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 GTF2IRD1 (see all 3083)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1849653721,2
    --73199226(+) CACCAC/TGCCCG 3 -- us2k10--------
    rs1904640051,2
    --73199240(+) AATTTC/TTGTGT 3 -- us2k10--------
    rs1496945761,2
    --73199331(+) TCCCAA/GAGTGT 3 -- us2k10--------
    rs1462322711,2
    --73199350(+) CAGGCA/GTGAGC 3 -- us2k10--------
    rs1393258641,2
    --73199365(+) GTGCCC/TGGCCT 3 -- us2k10--------
    rs2496871,2
    C,F,A,H--73199384(-) agactG/Ctgttt 3 -- us2k17Minor allele frequency- C:0.38NA WA CSA 130
    rs1441421201,2
    --73199449(+) CCACCC/TCCTGG 3 -- us2k10--------
    rs1465302691,2
    --73199521(+) CACCCA/GGCTAA 3 -- us2k10--------
    rs571517881,2
    C,F--73199552(+) AGGTTT/CCGCTG 3 -- us2k11Minor allele frequency- C:0.39EA 120
    rs2496861,2
    C,F,A,H--73199609(-) gaggcC/Gaaggt 3 -- us2k16Minor allele frequency- G:0.20NA CSA 10

    HapMap Linkage Disequilibrium report for GTF2IRD1 (73868120 - 74016931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GTF2IRD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669330CNV Deletion23128226
    esv2734670CNV Deletion23290073
    nsv831032CNV Loss17160897
    dgv7326n71CNV Loss21882294
    nsv888379CNV Loss21882294
    nsv831033CNV Loss17160897
    nsv888378CNV Gain21882294
    esv33268CNV Gain17666407
    dgv2100e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): GTF2IRD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GTF2IRD1
    DNA2.0 Custom Variant and Variant Library Synthesis for GTF2IRD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604318    OMIM disorders: --

    UniProtKB/Swiss-Prot: GT2D1_HUMAN, Q9UHL9
  • Note=GTF2IRD1 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of
    GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • 12 diseases for GTF2IRD1:    
    About MalaCards
    tinea cruris    williams-beuren syndrome    supravalvular aortic stenosis    n syndrome
    atrioventricular septal defect    retinoblastoma    aortic valve stenosis    intellectual disability
    herpes simplex    endotheliitis    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for GTF2IRD1:
    Williams-Beuren syndrome     Aortic valve stenosis

    GTF2IRD1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GTF2IRD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    williams syndrome 92.7 18 11352562 (2), 20007321 (2), 19527686 (2), 17239664 (2) (see all 12)

    Genetic Association Database (GAD): GTF2IRD1
    Human Genome Epidemiology (HuGE) Navigator: GTF2IRD1 (1 document)

    Export disorders for GTF2IRD1 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 GTF2IRD1 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with GTF2IRD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel slow-muscle-fiber enhancer binding protein, MUSTRD1. (PubMed id 9774679)1, 2, 3, 9 O'Mahoney J.V.... Hardeman E.C. (Mol. Cell. Biol. 1998)
    2. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome. (PubMed id 10198167)1, 2, 3, 9 Osborne L.R.... Tsui L.-C. (Genomics 1999)
    3. Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23. (PubMed id 10575229)1, 2, 9 Franke Y.... Francke U. (Cytogenet. Cell Genet. 1999)
    4. A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. (PubMed id 10573005)1, 2, 9 Tassabehji M....Metcalfe K. (Eur. J. Hum. Genet. 1999)
    5. Characterization and gene structure of a novel retinoblastoma- protein-associated protein similar to the transcription regulator TFII-I. (PubMed id 10642537)1, 2, 9 Yan X.... Zhu X. (Biochem. J. 2000)
    6. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    10. Repression of TFII-I-dependent transcription by nuclear exclusion. (PubMed id 11438732)1, 2 Tussie-Luna M.I.... Roy A.L. (Proc. Natl. Acad. Sci. U.S.A. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 9569 HGNC: 4661 AceView: GTF2IRD1 Ensembl:ENSG00000006704 euGenes: HUgn9569
    ECgene: GTF2IRD1 Kegg: 9569 H-InvDB: GTF2IRD1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for GTF2IRD1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GTF2IRD1 gene:
    Search GeneIP for patents involving GTF2IRD1

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



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