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    GTF2I general transcription factor IIi [ Homo sapiens (human) ]

    Gene ID: 2969, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GTF2Iprovided by HGNC
    Official Full Name
    general transcription factor IIiprovided by HGNC
    Primary source
    HGNC:HGNC:4659
    See related
    Ensembl:ENSG00000263001 MIM:601679; AllianceGenome:HGNC:4659
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WBS; DIWS; SPIN; IB291; BAP135; BTKAP1; TFII-I; WBSCR6; GTFII-I
    Summary
    This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in brain (RPKM 105.1), thyroid (RPKM 95.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GTF2I in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (74657718..74760692)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (75860000..75962983)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (74072044..74175022)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 Neighboring gene Williams-Beuren syndrome chromosome region 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73995345-73995846 Neighboring gene Sharpr-MPRA regulatory region 2459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74001529-74002116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74002117-74002703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18282 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031162-74031727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74031728-74032292 Neighboring gene microRNA 10525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18288 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74075507-74076155 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26173 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26175 Neighboring gene GTF2I antisense RNA 1 Neighboring gene Williams-Beuren syndrome medial block B recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74181785-74182286 Neighboring gene PHB1 pseudogene 15 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74186639-74187184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:74201830-74202532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:74203411-74204070 Neighboring gene GTF2I repeat domain containing 2 Neighboring gene neutrophil cytosolic factor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Pathophysiology of TFII-I: Old Guard Wearing New Hats. Roy AL. Trends Mol Med, 2017 Jun. PMID 28461154, Free PMC Article
    2. The transcription factor TFII-I promotes DNA translesion synthesis and genomic stability. Fattah FJ, et al. PLoS Genet, 2014 Jun. PMID 24922507, Free PMC Article
    3. A specific missense mutation in GTF2I occurs at high frequency in thymic epithelial tumors. Petrini I, et al. Nat Genet, 2014 Aug. PMID 24974848, Free PMC Article
    4. Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population. Crespi BJ, et al. BMC Neurosci, 2014 Nov 28. PMID 25429715, Free PMC Article
    5. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. Adamo A, et al. Nat Genet, 2015 Feb. PMID 25501393

    See all (333) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.
      Title: ChIP-seq analysis found IL21R, a target gene of GTF2I-the susceptibility gene for primary biliary cholangitis in Chinese Han.
    2. Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.
      Title: Loss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.
    3. GTF2I mutation in micronodular thymoma with lymphoid stroma.
      Title: GTF2I mutation in micronodular thymoma with lymphoid stroma.
    4. Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.
      Title: Neuronal Gtf2i deletion alters mitochondrial and autophagic properties.
    5. DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia.
      Title: DUX4-r exerts a neomorphic activity that depends on GTF2I in acute lymphoblastic leukemia.
    6. Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.
      Title: Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.
    7. Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas).
      Title: Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas).
    8. Identification and validation of immune related core transcription factors GTF2I in NAFLD.
      Title: Identification and validation of immune related core transcription factors GTF2I in NAFLD.
    9. GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study.
      Title: GTF2I Mutation in Thymomas: Independence From Racial-Ethnic Backgrounds. An Indian/German Comparative Study.
    10. Sjogren's syndrome-associated SNPs increase GTF2I expression in salivary gland cells to enhance inflammation development.
      Title: Sjögren's syndrome-associated SNPs increase GTF2I expression in salivary gland cells to enhance inflammation development.
    Submit: New GeneRIF Correction See all GeneRIFs (70)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-08-08)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-08-08)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
    EBI GWAS Catalog
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Inhibition of SREBP2 activity reduces TFII-I induction in response to HIV-1 infection or activation of human primary CD4(+) T cells and TFII-I contributes to Tat-dependent viral gene expression PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36344, FLJ38776, FLJ56355

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within negative regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    general transcription factor II-I
    Names
    BTK-associated protein, 135kD
    Bruton tyrosine kinase-associated protein 135
    SRF-Phox1-interacting protein
    Williams-Beuren syndrome chromosome region 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008179.2 RefSeqGene

      Range
      5029..108003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163636.3 → NP_001157108.1  general transcription factor II-I isoform 5

      See identical proteins and their annotated locations for NP_001157108.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site and lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AA641906, AF035737, AK292832, BC099907, CB118501
      UniProtKB/TrEMBL
      Q499G6
      Conserved Domains (1) summary
      pfam02946
      Location:112 → 186
      GTF2I; GTF2I-like repeat

    2. NM_001280800.2 → NP_001267729.1  general transcription factor II-I isoform 6

      See identical proteins and their annotated locations for NP_001267729.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks multiple coding exons and its transcription extends past a splice site used in variant 1, resulting in a distinct 3' coding region and 3' UTR. The encoded isoform (6) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF015553, BC004472
      Consensus CDS
      CCDS64680.1
      UniProtKB/TrEMBL
      X5D7Q9
      Related
      ENSP00000404240.1, ENST00000443166.5
      Conserved Domains (1) summary
      pfam02946
      Location:112 → 184
      GTF2I; GTF2I-like repeat

    3. NM_001518.5 → NP_001509.3  general transcription factor II-I isoform 4

      See identical proteins and their annotated locations for NP_001509.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons, compared to variant 1. The encoded isoform (4, also known as delta) is shorter than isoform 1.
      Source sequence(s)
      AA641906, AF035737, AK292832, BC070484, BC099907, CB118501
      Consensus CDS
      CCDS47614.1
      UniProtKB/TrEMBL
      Q499G6, X5D2J9
      Related
      ENSP00000477837.1, ENST00000620879.4
      Conserved Domains (1) summary
      pfam02946
      Location:112 → 186
      GTF2I; GTF2I-like repeat

    4. NM_032999.4 → NP_127492.1  general transcription factor II-I isoform 1

      See identical proteins and their annotated locations for NP_127492.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1, also known as gamma).
      Source sequence(s)
      AA641906, AF015553, AF035737, AK292832, BC099907, CB118501
      Consensus CDS
      CCDS5573.1
      UniProtKB/Swiss-Prot
      O14743, O15359, O43546, O43588, O43589, P78347, Q75M85, Q75M86, Q75M87, Q75M88, Q86U51, Q9BSZ4
      UniProtKB/TrEMBL
      B4DH52, X5DR09
      Related
      ENSP00000460070.1, ENST00000573035.6
      Conserved Domains (1) summary
      pfam02946
      Location:112 → 186
      GTF2I; GTF2I-like repeat

    5. NM_033000.4 → NP_127493.1  general transcription factor II-I isoform 2

      See identical proteins and their annotated locations for NP_127493.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2, also known as beta) is shorter than isoform 1.
      Source sequence(s)
      AA641906, AF015553, AF038967, AK292832, BC099907, CB118501
      Consensus CDS
      CCDS5574.1
      UniProtKB/TrEMBL
      A8K9W7, X5DNP5
      Related
      ENSP00000484526.1, ENST00000614986.4
      Conserved Domains (1) summary
      pfam02946
      Location:112 → 186
      GTF2I; GTF2I-like repeat

    6. NM_033001.4 → NP_127494.1  general transcription factor II-I isoform 3

      See identical proteins and their annotated locations for NP_127494.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (3, also known as alpha) is shorter than isoform 1.
      Source sequence(s)
      AA641906, AF015553, AF038968, AK292832, BC099907, CB118501
      Consensus CDS
      CCDS5575.1
      UniProtKB/TrEMBL
      Q499G6, X5D939
      Related
      ENSP00000482476.1, ENST00000621734.4
      Conserved Domains (1) summary
      pfam02946
      Location:112 → 186
      GTF2I; GTF2I-like repeat

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      74657718..74760692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      75860000..75962983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P78347.2 GenPept UniProtKB/Swiss-Prot:P78347

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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