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Aliases for GTF2IRD2 Gene

Aliases for GTF2IRD2 Gene

  • GTF2I Repeat Domain Containing 2 2 3 5
  • GTF2I Repeat Domain-Containing Protein 2A 3 4
  • Transcription Factor GTF2IRD2-Alpha 3 4
  • GTF2IRD2A 3 4
  • General Transcription Factor II-I Repeat Domain-Containing Protein 2A 3
  • General Transcription Factor II I Repeat Domain 2 Alpha 3
  • GTF2I Repeat Domain-Containing Protein 2, Alpha 3
  • Transcription Factor GTF2IRD2 2
  • GTF2IRD2 Alpha 3
  • FP630 3

External Ids for GTF2IRD2 Gene

Previous GeneCards Identifiers for GTF2IRD2 Gene

  • GC07M073608
  • GC07M073622
  • GC07M073655
  • GC07M073848
  • GC07M074212

Summaries for GTF2IRD2 Gene

Entrez Gene Summary for GTF2IRD2 Gene

  • This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for GTF2IRD2 Gene

GTF2IRD2 (GTF2I Repeat Domain Containing 2) is a Protein Coding gene. Diseases associated with GTF2IRD2 include Williams-Beuren Syndrome and Chromosomal Deletion Syndrome. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is GTF2IRD2B.

Additional gene information for GTF2IRD2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTF2IRD2 Gene

Genomics for GTF2IRD2 Gene

Regulatory Elements for GTF2IRD2 Gene

Enhancers for GTF2IRD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H073890 1.5 FANTOM5 Ensembl ENCODE dbSUPER 53 +961.4 961391 0.8 ZBTB21 ZNF140 ZNF697 ZNF664 ZNF791 ZNF354C RBAK ZNF433 ZNF202 ZNF680 NSUN5P2 STAG3L3 BAZ1B GTF2IRD2 METTL27 POM121B MIR590 GTF2IRD2P1 LOC101926943 TBL2
GH07H075841 1.3 Ensembl ENCODE 24.6 -991.4 -991378 2.5 ATF1 FOXA2 ARNT TCF12 ZNF766 FOS ATF7 RUNX3 CAVIN1 GTF2B STAG3L1 PMS2P3 GTF2IRD2 GTF2IRD2B NSUN5P1 CCL26 POR SNORA14A CCL24 LOC100133091
GH07H075623 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14.7 -772.3 -772302 1.5 HDAC1 ATF1 TBL1XR1 ARNT NFRKB ZBTB40 ZNF766 ATF7 CREM CAVIN1 HIP1 PMS2P3 STAG3L1 GTF2IRD2 GTF2IRD2B NSUN5P1 LOC100133091 POR ENSG00000279996 GC07M075581
GH07H074643 1.6 FANTOM5 Ensembl ENCODE dbSUPER 15.2 +208.1 208105 1.4 SMARCA5 ZNF687 TRIM22 BACH1 EBF1 DPF2 RELA ZNF217 IKZF1 NBN GTF2IRD2 GTF2IRD2B ENSG00000232415 GTF2IRD1 PMS2P2 LAT2 ENSG00000279005 GTF2I
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GTF2IRD2 on UCSC Golden Path with GeneCards custom track

Promoters for GTF2IRD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for GTF2IRD2 Gene

Genomic Locations for GTF2IRD2 Gene
55,649 bases
Minus strand

Genomic View for GTF2IRD2 Gene

Genes around GTF2IRD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTF2IRD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTF2IRD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTF2IRD2 Gene

Proteins for GTF2IRD2 Gene

  • Protein details for GTF2IRD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    General transcription factor II-I repeat domain-containing protein 2A
    Protein Accession:
    Secondary Accessions:
    • A8K5W6
    • B3KUZ2
    • Q69G40
    • Q6EKI8
    • Q6EKI9
    • Q6NVW2
    • Q6P7N8
    • Q86WX4
    • Q8ND85
    • Q8NDE5

    Protein attributes for GTF2IRD2 Gene

    949 amino acids
    Molecular mass:
    107231 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GTF2IRD2 Gene

neXtProt entry for GTF2IRD2 Gene

Post-translational modifications for GTF2IRD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GTF2IRD2 Gene

No data available for DME Specific Peptides for GTF2IRD2 Gene

Domains & Families for GTF2IRD2 Gene

Gene Families for GTF2IRD2 Gene

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

Protein Domains for GTF2IRD2 Gene


Suggested Antigen Peptide Sequences for GTF2IRD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TFII-I family.
  • Belongs to the TFII-I family.
genes like me logo Genes that share domains with GTF2IRD2: view

Function for GTF2IRD2 Gene

Phenotypes From GWAS Catalog for GTF2IRD2 Gene

Gene Ontology (GO) - Molecular Function for GTF2IRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA,IBA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GTF2IRD2: view
genes like me logo Genes that share phenotypes with GTF2IRD2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GTF2IRD2 Gene

Localization for GTF2IRD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2IRD2 Gene

Subcellular locations from

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 GTF2IRD2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GTF2IRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IBA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with GTF2IRD2: view

Pathways & Interactions for GTF2IRD2 Gene

SuperPathways for GTF2IRD2 Gene

No Data Available

Interacting Proteins for GTF2IRD2 Gene

Gene Ontology (GO) - Biological Process for GTF2IRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with GTF2IRD2: view

No data available for Pathways by source and SIGNOR curated interactions for GTF2IRD2 Gene

Drugs & Compounds for GTF2IRD2 Gene

No Compound Related Data Available

Transcripts for GTF2IRD2 Gene

Unigene Clusters for GTF2IRD2 Gene

GTF2I repeat domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for GTF2IRD2 Gene

No ASD Table

Relevant External Links for GTF2IRD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GTF2IRD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GTF2IRD2 Gene

Protein differential expression in normal tissues from HIPED for GTF2IRD2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GTF2IRD2 Gene

Protein tissue co-expression partners for GTF2IRD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GTF2IRD2 Gene:


SOURCE GeneReport for Unigene cluster for GTF2IRD2 Gene:


mRNA Expression by UniProt/SwissProt for GTF2IRD2 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for GTF2IRD2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with GTF2IRD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GTF2IRD2 Gene

Orthologs for GTF2IRD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GTF2IRD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GTF2IRD2 34
  • 99 (a)
(Bos Taurus)
Mammalia -- 34
  • 89 (a)
(Canis familiaris)
Mammalia -- 34
  • 88 (a)
(Mus musculus)
Mammalia Gtf2ird2 34
  • 80 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 29 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 31 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493752 33
  • 49.82 (n)
(Danio rerio)
Actinopterygii CABZ01077217.1 34
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
Species where no ortholog for GTF2IRD2 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)
  • 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 GTF2IRD2 Gene

Gene Tree for GTF2IRD2 (if available)
Gene Tree for GTF2IRD2 (if available)

Paralogs for GTF2IRD2 Gene

Paralogs for GTF2IRD2 Gene

(3) SIMAP similar genes for GTF2IRD2 Gene using alignment to 2 proteins: Pseudogenes for GTF2IRD2 Gene

genes like me logo Genes that share paralogs with GTF2IRD2: view

Variants for GTF2IRD2 Gene

Sequence variations from dbSNP and Humsavar for GTF2IRD2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs879255432 Uncertain significance 74,824,984(-) CAGGC(A/G)AAACG reference, missense
rs10225848 -- 74,805,436(+) aaaaa(A/G)acaag intron-variant
rs111304862 -- 74,843,726(-) GTCGG(C/T)GTCAG intron-variant
rs111340667 -- 74,833,721(+) TAGTA(A/T)AGACG intron-variant
rs111428748 -- 74,839,830(-) GGGGG(C/G)GTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GTF2IRD2 Gene

Variant ID Type Subtype PubMed ID
nsv970532 CNV duplication 23825009
nsv7402 OTHER inversion 18451855
nsv509208 CNV insertion 20534489
nsv1144181 CNV deletion 24896259
nsv1076928 CNV deletion 25765185
nsv1032137 CNV gain 25217958
esv3891146 CNV loss 25118596
esv3571922 CNV loss 25503493
esv2761338 CNV gain 21179565

Variation tolerance for GTF2IRD2 Gene

Gene Damage Index Score: 5.69; 73.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GTF2IRD2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2IRD2 Gene

Disorders for GTF2IRD2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GTF2IRD2 Gene - From: HGMD, DISEASES, and GeneCards

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


  • Note=GTF2IRD2 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 GTF2IRD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GTF2IRD2: view

No data available for Genatlas for GTF2IRD2 Gene

Publications for GTF2IRD2 Gene

  1. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats. (PMID: 15243160) Makeyev AV … Bayarsaihan D (Proceedings of the National Academy of Sciences of the United States of America 2004) 2 3 4 22 60
  2. 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 HJ … Tassabehji M (European journal of human genetics : EJHG 2004) 3 4 22 60
  3. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. (PMID: 15388857) Hinsley TA … Tassabehji M (Protein science : a publication of the Protein Society 2004) 3 4 22 60
  4. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. (PMID: 16532385) Del Campo M … Pérez Jurado LA (American journal of human genetics 2006) 3 4 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for GTF2IRD2 Gene

Sources for GTF2IRD2 Gene

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