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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.

No data available for 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
GH07F073890 1.3 FANTOM5 Ensembl ENCODE 53 +961.4 961391 0.8 ZNF202 ZNF680 ZNF140 ZBTB8A REST ZNF781 ZNF518A ZNF664 ZNF292 ZNF791 BAZ1B GTF2IRD2 WBSCR27 POM121B MIR590 GTF2IRD2P1 LOC101926943 WBSCR22 PMS2P7 FKBP6
GH07F074472 1.4 FANTOM5 Ensembl ENCODE 30.8 +373.0 372972 11.7 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 YBX1 FOS JUNB ZHX2 STAG3L1 BAZ1B WBSCR27 NSUN5P1 GTF2IRD2 MIR590 LOC101926943 GTF2IRD1 WBSCR22 TRIM73
GH07F074635 1.1 FANTOM5 Ensembl ENCODE 29.2 +215.8 215776 2.0 PKNOX1 ZFP64 ARID4B SIN3A YBX1 ZNF48 FOS ZNF202 REST PPARG STAG3L1 MIR590 WBSCR27 NSUN5P1 GTF2IRD2 WBSCR22 LOC101926943 PMS2P5 TRIM73 PMS2P2
GH07F074252 0.6 ENCODE 26.7 +596.6 596613 4.4 HDGF PKNOX1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 GTF2IRD2P1 GTF2IRD2 BAZ1B RFC2 ENSG00000232415 GTF2IRD1 GC07M074256 GC07P074254
GH07F074653 1.4 FANTOM5 ENCODE 17 +192.5 192462 11.3 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 YY1 GTF2IRD2 ENSG00000277675 STAG3L2 PMS2P2 PMS2P5 SPDYE12P GTF2I LAT2 GC07P074660
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000682514 592 2001 PKNOX1 CHD4 BMI1 ZNF384 TEAD3 ZNF121 ZFHX2 GLIS2 POLR2A EGR1

Genomic Location for GTF2IRD2 Gene

Chromosome:
7
Start:
74,796,144 bp from pter
End:
74,851,792 bp from pter
Size:
55,649 bases
Orientation:
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:
    Q86UP8-GTD2A_HUMAN
    Recommended name:
    General transcription factor II-I repeat domain-containing protein 2A
    Protein Accession:
    Q86UP8
    Secondary Accessions:
    • A8K5W6
    • B3KUZ2
    • Q69G40
    • Q6EKI8
    • Q6EKI9
    • Q6NVW2
    • Q6P7N8
    • Q86WX4
    • Q8ND85
    • Q8NDE5

    Protein attributes for GTF2IRD2 Gene

    Size:
    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

Protein Domains for GTF2IRD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GTF2IRD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86UP8

UniProtKB/Swiss-Prot:

GTD2A_HUMAN :
  • Belongs to the TFII-I family.
  • Contains 2 GTF2I-like repeats.
Family:
  • Belongs to the TFII-I family.
Similarity:
  • Contains 2 GTF2I-like repeats.
genes like me logo Genes that share domains with GTF2IRD2: view

No data available for Gene Families for GTF2IRD2 Gene

Function for GTF2IRD2 Gene

Gene Ontology (GO) - Molecular Function for GTF2IRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for GTF2IRD2 Gene COMPARTMENTS Subcellular localization image for GTF2IRD2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GTF2IRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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 --
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

Transcripts for GTF2IRD2 Gene

Unigene Clusters for GTF2IRD2 Gene

GTF2I repeat domain containing 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GTF2IRD2 Gene

GeneLoc Exon Structure for
GTF2IRD2
ECgene alternative splicing isoforms for
GTF2IRD2

Expression for GTF2IRD2 Gene

mRNA expression in normal human tissues 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:

GTF2IRD2

SOURCE GeneReport for Unigene cluster for GTF2IRD2 Gene:

Hs.647017

mRNA Expression by UniProt/SwissProt for GTF2IRD2 Gene:

Q86UP8-GTD2A_HUMAN
Tissue specificity: Ubiquitous.
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 and mRNA differential expression in normal tissues 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
chimpanzee
(Pan troglodytes)
Mammalia GTF2IRD2 35
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 88 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gtf2ird2 35
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 29 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 31 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493752 34
  • 49.82 (n)
zebrafish
(Danio rerio)
Actinopterygii CABZ01077217.1 35
  • 39 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for GTF2IRD2 (if available)
TreeFam:
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.org 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
esv2761338 CNV gain 21179565
esv3571922 CNV loss 25503493
esv3891146 CNV loss 25118596
nsv1032137 CNV gain 25217958
nsv1076928 CNV deletion 25765185
nsv1144181 CNV deletion 24896259
nsv509208 CNV insertion 20534489
nsv7402 OTHER inversion 18451855
nsv970532 CNV duplication 23825009

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)
GTF2IRD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2IRD2

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: DISEASES and GeneCards

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

UniProtKB/Swiss-Prot

GTD2A_HUMAN
  • 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:
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 A.V. … Bayarsaihan D. (Proc. Natl. Acad. Sci. U.S.A. 2004) 2 3 4 22 64
  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 H.J. … Tassabehji M. (Eur. J. Hum. Genet. 2004) 3 4 22 64
  3. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome. (PMID: 15388857) Hinsley T.A. … Tassabehji M. (Protein Sci. 2004) 3 4 22 64
  4. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. (PMID: 16532385) Del Campo M. … Perez Jurado L.A. (Am. J. Hum. Genet. 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for GTF2IRD2 Gene

Sources for GTF2IRD2 Gene

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