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... See more...

Aliases for GTF2I Gene

Aliases for GTF2I Gene

  • General Transcription Factor IIi 2 3 5
  • Bruton Tyrosine Kinase-Associated Protein 135 3 4
  • General Transcription Factor II-I 3 4
  • SRF-Phox1-Interacting Protein 3 4
  • GTFII-I 3 4
  • WBSCR6 3 4
  • BAP135 3 4
  • TFII-I 3 4
  • SPIN 3 4
  • Williams-Beuren Syndrome Chromosomal Region 6 Protein 4
  • Williams-Beuren Syndrome Chromosome Region 6 3
  • General Transcription Factor II, I 2
  • BTK-Associated Protein, 135kD 3
  • BTK-Associated Protein 135 4
  • BAP-135 4
  • BTKAP1 3
  • IB291 3
  • DIWS 3
  • WBS 3

External Ids for GTF2I Gene

Previous HGNC Symbols for GTF2I Gene

  • WBSCR6

Previous GeneCards Identifiers for GTF2I Gene

  • GC07P072712
  • GC07P073470
  • GC07P073484
  • GC07P073516
  • GC07P073709
  • GC07P074071
  • GC07P069950

Summaries for GTF2I Gene

Entrez Gene Summary for GTF2I Gene

  • 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]

GeneCards Summary for GTF2I Gene

GTF2I (General Transcription Factor IIi) is a Protein Coding gene. Diseases associated with GTF2I include Williams-Beuren Syndrome and Supravalvular Aortic Stenosis. Among its related pathways are cGMP-PKG signaling pathway and B cell receptor signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and mitogen-activated protein kinase binding. An important paralog of this gene is GTF2IRD2B.

UniProtKB/Swiss-Prot Summary for GTF2I Gene

  • Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation.

Gene Wiki entry for GTF2I Gene

Additional gene information for GTF2I Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GTF2I Gene

Genomics for GTF2I Gene

GeneHancer (GH) Regulatory Elements for GTF2I Gene

Promoters and enhancers for GTF2I Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GTF2I on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2I gene promoter:
  • ATF6
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • Egr-3

Genomic Locations for GTF2I Gene

Genomic Locations for GTF2I Gene
chr7:74,650,231-74,760,692
(GRCh38/hg38)
Size:
110,462 bases
Orientation:
Plus strand
chr7:74,071,994-74,175,026
(GRCh37/hg19)
Size:
103,033 bases
Orientation:
Plus strand

Genomic View for GTF2I Gene

Genes around GTF2I on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2I Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2I Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2I Gene

Proteins for GTF2I Gene

  • Protein details for GTF2I Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78347-GTF2I_HUMAN
    Recommended name:
    General transcription factor II-I
    Protein Accession:
    P78347
    Secondary Accessions:
    • O14743
    • O15359
    • O43546
    • O43588
    • O43589
    • Q75M85
    • Q75M86
    • Q75M87
    • Q75M88
    • Q86U51
    • Q9BSZ4

    Protein attributes for GTF2I Gene

    Size:
    998 amino acids
    Molecular mass:
    112416 Da
    Quaternary structure:
    • Homodimer (Potential). Interacts with SRF and PHOX1. Binds a pyrimidine-rich initiator (Inr) and a recognition site (E-box) for upstream stimulatory factor 1 (USF1). Associates with the PH domain of Bruton's tyrosine kinase (BTK). May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with BTK and ARID3A. Interacts with isoform beta of PRKG1.

    Three dimensional structures from OCA and Proteopedia for GTF2I Gene

    Alternative splice isoforms for GTF2I Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2I Gene

Post-translational modifications for GTF2I Gene

  • Transiently phosphorylated on tyrosine residues by BTK in response to B-cell receptor stimulation. Phosphorylation on Tyr-248 and Tyr-398, and perhaps, on Tyr-503 contributes to BTK-mediated transcriptional activation.
  • Sumoylated.
  • Ubiquitination at Lys140, Lys353, Lys488, Lys494, Lys539, and Lys879
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for GTF2I

No data available for DME Specific Peptides for GTF2I Gene

Domains & Families for GTF2I Gene

Gene Families for GTF2I Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GTF2I Gene

Suggested Antigen Peptide Sequences for GTF2I Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55916, highly similar to General transcription factor II-I (B4DH52_HUMAN)
  • Williams-Beuren syndrome chromosomal region 6 protein (GTF2I_HUMAN)
  • General transcription factor II, i (Q499G6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P78347

UniProtKB/Swiss-Prot:

GTF2I_HUMAN :
  • Belongs to the TFII-I family.
Family:
  • Belongs to the TFII-I family.
genes like me logo Genes that share domains with GTF2I: view

Function for GTF2I Gene

Molecular function for GTF2I Gene

UniProtKB/Swiss-Prot Function:
Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation.
GENATLAS Biochemistry:
general transcription factor 2I,interacting with USF1 deleted in Williams-Beuren syndrome,also gene encoding to BAP135 (see symbol)

Phenotypes From GWAS Catalog for GTF2I Gene

Gene Ontology (GO) - Molecular Function for GTF2I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity NAS,IEA --
GO:0005515 protein binding IPI 9012831
genes like me logo Genes that share ontologies with GTF2I: view
genes like me logo Genes that share phenotypes with GTF2I: view

Human Phenotype Ontology for GTF2I Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GTF2I Gene

MGI Knock Outs for GTF2I:

Animal Model Products

  • Taconic Biosciences Mouse Models for GTF2I

CRISPR Products

Clone Products

  • Addgene plasmids for GTF2I

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GTF2I Gene

Localization for GTF2I Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2I Gene

Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GTF2I gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
endoplasmic reticulum 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GTF2I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19242469
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with GTF2I: view

Pathways & Interactions for GTF2I Gene

genes like me logo Genes that share pathways with GTF2I: view

Pathways by source for GTF2I Gene

1 BioSystems pathway for GTF2I Gene
2 Qiagen pathways for GTF2I Gene
  • Tec Kinases Signaling
  • Transcription of mRNA
1 Cell Signaling Technology pathway for GTF2I Gene

SIGNOR curated interactions for GTF2I Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for GTF2I Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II TAS 9334314
GO:0006367 transcription initiation from RNA polymerase II promoter TAS 9334314
GO:0007165 signal transduction TAS 9012831
GO:0016525 negative regulation of angiogenesis IDA 19242469
genes like me logo Genes that share ontologies with GTF2I: view

Drugs & Compounds for GTF2I Gene

(4) Drugs for GTF2I Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for GTF2I Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GTF2I: view

Transcripts for GTF2I Gene

mRNA/cDNA for GTF2I Gene

CRISPR Products

Clone Products

  • Addgene plasmids for GTF2I

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2I Gene

No ASD Table

Relevant External Links for GTF2I Gene

GeneLoc Exon Structure for
GTF2I
ECgene alternative splicing isoforms for
GTF2I

Expression for GTF2I Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GTF2I Gene

Protein differential expression in normal tissues from HIPED for GTF2I Gene

This gene is overexpressed in Blymphocyte (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTF2I Gene



Protein tissue co-expression partners for GTF2I Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GTF2I Gene:

GTF2I

SOURCE GeneReport for Unigene cluster for GTF2I Gene:

Hs.647041

mRNA Expression by UniProt/SwissProt for GTF2I Gene:

P78347-GTF2I_HUMAN
Tissue specificity: Ubiquitous. Isoform 1 is strongly expressed in fetal brain, weakly in adult brain, muscle, and lymphoblasts and is almost undetectable in other adult tissues, while the other isoforms are equally expressed in all adult tissues.

Evidence on tissue expression from TISSUES for GTF2I Gene

  • Nervous system(4.8)
  • Liver(4.3)
  • Eye(2.5)
  • Kidney(2.3)
  • Adrenal gland(2.1)
  • Blood(2.1)
  • Bone marrow(2.1)
  • Gall bladder(2.1)
  • Intestine(2.1)
  • Lung(2.1)
  • Lymph node(2.1)
  • Muscle(2.1)
  • Skin(2.1)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2I Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GTF2I: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GTF2I Gene

Orthologs for GTF2I Gene

This gene was present in the common ancestor of chordates.

Orthologs for GTF2I Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GTF2I 32
  • 99.63 (n)
cow
(Bos Taurus)
Mammalia GTF2I 32
  • 92.02 (n)
dog
(Canis familiaris)
Mammalia GTF2I 32
  • 91.95 (n)
mouse
(Mus musculus)
Mammalia Gtf2i 17 32
  • 87.73 (n)
rat
(Rattus norvegicus)
Mammalia Gtf2i 32
  • 87.02 (n)
chicken
(Gallus gallus)
Aves GTF2I 32
  • 76.16 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gtf2i 32
  • 67.96 (n)
Species where no ortholog for GTF2I was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GTF2I Gene

ENSEMBL:
Gene Tree for GTF2I (if available)
TreeFam:
Gene Tree for GTF2I (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GTF2I: view image

Paralogs for GTF2I Gene

(3) SIMAP similar genes for GTF2I Gene using alignment to 4 proteins:

  • GTF2I_HUMAN
  • C9J6M0_HUMAN
  • Q499G6_HUMAN
  • Q86U51_HUMAN
genes like me logo Genes that share paralogs with GTF2I: view

Variants for GTF2I Gene

Sequence variations from dbSNP and Humsavar for GTF2I Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs150259949 uncertain-significance, not provided 74,699,078(+) A/G coding_sequence_variant, missense_variant
rs1000073094 -- 74,675,105(+) G/A intron_variant
rs1000119497 -- 74,687,112(+) A/C intron_variant
rs1000197518 -- 74,690,475(+) A/G intron_variant
rs1000254818 -- 74,718,622(+) T/G genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2I Gene

Variant ID Type Subtype PubMed ID
dgv3592n106 CNV deletion 24896259
esv3414828 CNV insertion 20981092
esv3613715 CNV loss 21293372
esv3613716 CNV loss 21293372
nsv1032137 CNV gain 25217958
nsv1120547 CNV tandem duplication 24896259
nsv1124968 CNV duplication 24896259
nsv1151807 CNV duplication 26484159
nsv1151962 CNV duplication 26484159
nsv509208 CNV insertion 20534489
nsv517573 CNV loss 19592680
nsv5794 CNV insertion 18451855
nsv8141 CNV gain 18304495
nsv966849 CNV duplication 23825009
nsv966851 CNV duplication 23825009
nsv970532 CNV duplication 23825009
nsv971395 CNV duplication 23825009

Variation tolerance for GTF2I Gene

Residual Variation Intolerance Score: 28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GTF2I Gene

Human Gene Mutation Database (HGMD)
GTF2I
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2I

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2I Gene

Disorders for GTF2I Gene

MalaCards: The human disease database

(6) MalaCards diseases for GTF2I Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search GTF2I in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GTF2I_HUMAN
  • Note=GTF2I 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 GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Additional Disease Information for GTF2I

genes like me logo Genes that share disorders with GTF2I: view

No data available for Genatlas for GTF2I Gene

Publications for GTF2I Gene

  1. BAP-135, a target for Bruton's tyrosine kinase in response to B cell receptor engagement. (PMID: 9012831) Yang W … Desiderio S (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23 56
  2. Induction of immunoglobulin heavy-chain transcription through the transcription factor Bright requires TFII-I. (PMID: 16738337) Rajaiya J … Webb CF (Molecular and cellular biology 2006) 3 4 23 56
  3. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. (PMID: 9466987) Pérez Jurado LA … Francke U (Human molecular genetics 1998) 3 4 23 56
  4. A multifunctional DNA-binding protein that promotes the formation of serum response factor/homeodomain complexes: identity to TFII-I. (PMID: 9334314) Grueneberg DA … Gilman M (Genes & development 1997) 2 3 4 56
  5. Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1. (PMID: 9384587) Roy AL … Roeder RG (The EMBO journal 1997) 3 4 23 56

Products for GTF2I Gene

Sources for GTF2I Gene