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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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for GTF2IRD2 Gene

Promoters and enhancers for GTF2IRD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J074850 Promoter/Enhancer 1.7 EPDnew Ensembl dbSUPER 650.7 +0.6 591 1.6 MXI1 PKNOX1 DDX20 BACH1 BMI1 RFX5 ZFHX2 GLIS2 RFXANK EGR1 GTF2IRD2 SPDYE5 STAG3L1 NCF1
GH07J073890 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 34.1 +961.4 961391 0.8 ZBTB21 ZNF140 ZNF697 ZNF664 ZNF791 ZNF213 RBAK ZNF433 ZNF202 ZNF680 NSUN5P2 STAG3L3 METTL27 BAZ1B POM121B GTF2IRD2 MIR590 LOC101926943 GTF2IRD2P1 TBL2
GH07J074648 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.6 +201.7 201708 2.6 HDGF ATF1 IRF4 TCF12 RUNX3 NCOA1 MEF2D ATF4 SMARCA4 ZNF184 GTF2I GTF2IRD2 STAG3L1 MIR590 STAG3L2 PMS2P3 GTF2IRD2B LAT2 PMS2P2 SPDYE12P
GH07J074635 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.7 +215.8 215756 2 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A ZNF48 ETS1 FOS ZNF202 REST PMS2P3 STAG3L1 NSUN5P1 SPDYE5 MIR590 METTL27 LOC101926943 GTF2IRD2 GTF2IRD2B BUD23
GH07J074252 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12 +596.6 596613 4.4 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 RFC2 GC07P074254 GC07M074256 POM121B MIR590 BAZ1B GTF2IRD2P1 NSUN5 GTF2IRD2 GTF2IRD2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GTF2IRD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GTF2IRD2 gene promoter:
  • MZF-1
  • CBF(2)
  • NF-Y
  • AREB6
  • Nkx5-1
  • c-Myb
  • c-Ets-1
  • NRF-2

Genomic Locations for GTF2IRD2 Gene

Genomic Locations for GTF2IRD2 Gene
55,649 bases
Minus strand
57,365 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: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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2IRD2

Clone 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 by RNA polymerase II 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

mRNA/cDNA for GTF2IRD2 Gene

Unigene Clusters for GTF2IRD2 Gene

GTF2I repeat domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GTF2IRD2

Clone 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

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)
Evolutionary constrained regions (ECRs) for GTF2IRD2: view image

Paralogs for GTF2IRD2 Gene

Paralogs for GTF2IRD2 Gene

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

  • G8JLD9_HUMAN 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 Variation AA Info Type
rs375511371 uncertain-significance, not specified 74,824,984(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs10225848 -- 74,805,436(-) G/A genic_downstream_transcript_variant, intron_variant
rs111340667 -- 74,833,721(-) A/T intron_variant
rs111449690 -- 74,807,855(-) T/C genic_downstream_transcript_variant, intron_variant
rs111471245 -- 74,835,922(-) T/C 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)

Additional Variant Information 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

- 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}.

Additional Disease Information for GTF2IRD2

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 58
  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 58
  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 58
  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 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for GTF2IRD2 Gene

Sources for GTF2IRD2 Gene

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