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Aliases for GTF2IRD2B Gene

Aliases for GTF2IRD2B Gene

  • GTF2I Repeat Domain Containing 2B 2 3 5
  • GTF2I Repeat Domain-Containing Protein 2B 4
  • Transcription Factor GTF2IRD2-Beta 4

External Ids for GTF2IRD2B Gene

Previous GeneCards Identifiers for GTF2IRD2B Gene

  • GC07P073954
  • GC07P074147
  • GC07P074511
  • GC07P073841

Summaries for GTF2IRD2B Gene

Entrez Gene Summary for GTF2IRD2B Gene

  • This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for GTF2IRD2B Gene

GTF2IRD2B (GTF2I Repeat Domain Containing 2B) is a Protein Coding gene. Diseases associated with GTF2IRD2B include Williams-Beuren Syndrome. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZBED5.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2IRD2B Gene

Genomics for GTF2IRD2B Gene

Regulatory Elements for GTF2IRD2B Gene

Enhancers for GTF2IRD2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GTF2IRD2B on UCSC Golden Path with GeneCards custom track

Genomic Location for GTF2IRD2B Gene

75,092,396 bp from pter
75,149,817 bp from pter
57,422 bases
Plus strand

Genomic View for GTF2IRD2B Gene

Genes around GTF2IRD2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2IRD2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2IRD2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2IRD2B Gene

Proteins for GTF2IRD2B Gene

  • Protein details for GTF2IRD2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    General transcription factor II-I repeat domain-containing protein 2B
    Protein Accession:
    Secondary Accessions:
    • B2RNE9
    • Q69GU6
    • Q8N979
    • Q9H739

    Protein attributes for GTF2IRD2B Gene

    949 amino acids
    Molecular mass:
    107233 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAB15060.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC04576.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GTF2IRD2B Gene

    Alternative splice isoforms for GTF2IRD2B Gene


neXtProt entry for GTF2IRD2B Gene

Proteomics data for GTF2IRD2B Gene at MOPED

Post-translational modifications for GTF2IRD2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GTF2IRD2B Gene

No data available for DME Specific Peptides for GTF2IRD2B Gene

Domains & Families for GTF2IRD2B Gene

Protein Domains for GTF2IRD2B Gene

Suggested Antigen Peptide Sequences for GTF2IRD2B Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TFII-I family.
  • Contains 2 GTF2I-like repeats.
  • Belongs to the TFII-I family.
  • Contains 2 GTF2I-like repeats.
genes like me logo Genes that share domains with GTF2IRD2B: view

No data available for Gene Families for GTF2IRD2B Gene

Function for GTF2IRD2B Gene

genes like me logo Genes that share phenotypes with GTF2IRD2B: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTF2IRD2B Gene

Localization for GTF2IRD2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2IRD2B Gene

Subcellular locations from

Jensen Localization Image for GTF2IRD2B Gene COMPARTMENTS Subcellular localization image for GTF2IRD2B gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GTF2IRD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with GTF2IRD2B: view

Pathways & Interactions for GTF2IRD2B Gene

SuperPathways for GTF2IRD2B Gene

No Data Available

Interacting Proteins for GTF2IRD2B Gene

Gene Ontology (GO) - Biological Process for GTF2IRD2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with GTF2IRD2B: view

No data available for Pathways by source and SIGNOR curated interactions for GTF2IRD2B Gene

Drugs & Compounds for GTF2IRD2B Gene

No Compound Related Data Available

Transcripts for GTF2IRD2B Gene

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2IRD2B Gene

No ASD Table

Relevant External Links for GTF2IRD2B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GTF2IRD2B Gene

mRNA expression in normal human tissues for GTF2IRD2B Gene

Protein differential expression in normal tissues from HIPED for GTF2IRD2B Gene

This gene is overexpressed in Lung (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GTF2IRD2B Gene

mRNA Expression by UniProt/SwissProt for GTF2IRD2B Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with GTF2IRD2B: view

Protein tissue co-expression partners for GTF2IRD2B Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GTF2IRD2B Gene

Orthologs for GTF2IRD2B Gene

This gene was present in the common ancestor of chordates.

Orthologs for GTF2IRD2B Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia -- 36
  • 89 (a)
(Canis familiaris)
Mammalia -- 36
  • 89 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 30 (a)
(Mus musculus)
Mammalia Gtf2ird2 36
  • 80 (a)
(Pan troglodytes)
Mammalia GTF2IRD2 36
  • 99 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 33 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493752 35
  • 49.63 (n)
  • 42.31 (a)
(Danio rerio)
Actinopterygii CR538726.1 36
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
Species with no ortholog for GTF2IRD2B:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for GTF2IRD2B Gene

Gene Tree for GTF2IRD2B (if available)
Gene Tree for GTF2IRD2B (if available)

Paralogs for GTF2IRD2B Gene

Paralogs for GTF2IRD2B Gene

(3) SIMAP similar genes for GTF2IRD2B Gene using alignment to 4 proteins: Pseudogenes for GTF2IRD2B Gene

genes like me logo Genes that share paralogs with GTF2IRD2B: view

Variants for GTF2IRD2B Gene

Sequence variations from dbSNP and Humsavar for GTF2IRD2B Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs801007 -- 75,125,510(-) TGACA(C/T)GAGCt intron-variant
rs801008 -- 75,125,347(-) gggac(A/G)tgact intron-variant
rs801035 -- 75,105,047(+) gctaa(C/T)ttttg intron-variant
rs801036 -- 75,105,041(+) ttttg(C/T)atttt intron-variant
rs801039 -- 75,104,365(-) GAGGC(A/G)AGCGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2IRD2B Gene

Variant ID Type Subtype PubMed ID
dgv2100e1 CNV Complex 17122850
essv21300 CNV CNV 17122850
nsv888381 CNV Gain 21882294
nsv7402 OTHER Inversion 18451855
nsv528969 CNV Gain 19592680
nsv831034 CNV Loss 17160897
nsv8146 CNV Gain 18304495

Variation tolerance for GTF2IRD2B Gene

Gene Damage Index Score: 2.19; 39.59% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for GTF2IRD2B Gene

Disorders for GTF2IRD2B Gene

MalaCards: The human disease database

(1) MalaCards diseases for GTF2IRD2B Gene - From: GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Note=GTF2IRD2B 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 (PubMed:16532385). {ECO:0000269 PubMed:16532385}.

Relevant External Links for GTF2IRD2B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GTF2IRD2B: view

No data available for Genatlas for GTF2IRD2B Gene

Publications for GTF2IRD2B Gene

  1. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome. (PMID: 15100712) Tipney H.J. … Tassabehji M. (Eur. J. Hum. Genet. 2004) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3
  5. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. (PMID: 15388857) Hinsley T.A. … Tassabehji M. (Protein Sci. 2004) 3

Products for GTF2IRD2B Gene

Sources for GTF2IRD2B Gene