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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 and Chromosomal Deletion Syndrome. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is GTF2IRD2.

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 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
GH07F074648 1.4 FANTOM5 Ensembl ENCODE 1.9 -442.4 -442395 2.8 TBP HDGF ATF1 TBL1XR1 ZNF48 GATA2 EGR1 ZNF366 SCRT2 CREM STAG3L2 LAT2 PMS2P2 SPDYE12P GTF2IRD2 GTF2IRD2B GTF2I ENSG00000279005
GH07F074635 1.1 FANTOM5 Ensembl ENCODE 1.3 -456.4 -456380 2.0 PKNOX1 ZFP64 ARID4B SIN3A YBX1 ZNF48 FOS ZNF202 REST PPARG STAG3L1 MIR590 WBSCR27 NSUN5P1 GTF2IRD2 WBSCR22 LOC101926943 PMS2P5 TRIM73 PMS2P2
GH07F075092 0.4 ENCODE 0.8 +0.8 833 0.9 HDGF ATF1 PKNOX1 ARID4B GLIS2 GATA2 ZNF143 FOS KLF13 SP3 RCC1L GTF2IRD2B GC07P075127
GH07F075082 0.8 Ensembl 0.4 -9.7 -9688 0.6 ZFP3 RCC1L GTF2IRD2B
GH07F075105 0.4 Ensembl 0.4 +13.3 13305 0.2 HDGF PKNOX1 ATF1 ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 GTF2IRD2B GC07P075127
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GTF2IRD2B on UCSC Golden Path with GeneCards custom track

Promoters for GTF2IRD2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001560877 604 2401 HDGF ATF1 PKNOX1 ARID4B GLIS2 GATA2 ZNF143 FOS KLF13 SP3

Genomic Location for GTF2IRD2B Gene

Chromosome:
7
Start:
75,092,396 bp from pter
End:
75,149,817 bp from pter
Size:
57,422 bases
Orientation:
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:
    Q6EKJ0-GTD2B_HUMAN
    Recommended name:
    General transcription factor II-I repeat domain-containing protein 2B
    Protein Accession:
    Q6EKJ0
    Secondary Accessions:
    • B2RNE9
    • Q69GU6
    • Q8N979
    • Q9H739

    Protein attributes for GTF2IRD2B Gene

    Size:
    949 amino acids
    Molecular mass:
    107233 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for GTF2IRD2B Gene

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GTF2IRD2B Gene

Graphical View of Domain Structure for InterPro Entry

Q6EKJ0

UniProtKB/Swiss-Prot:

GTD2B_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 GTF2IRD2B: view

No data available for Gene Families for GTF2IRD2B Gene

Function for GTF2IRD2B Gene

Gene Ontology (GO) - Molecular Function for GTF2IRD2B 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 --
genes like me logo Genes that share ontologies with GTF2IRD2B: view
genes like me logo Genes that share phenotypes with GTF2IRD2B: view

Animal Model Products

Inhibitory RNA Products

Clone 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 GTF2IRD2B Gene

Localization for GTF2IRD2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTF2IRD2B Gene

Subcellular locations from

COMPARTMENTS
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:0005634 nucleus IEA --
GO:0005654 nucleoplasm IBA --
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

Selected Interacting proteins: Q6EKJ0-GTD2B_HUMAN for GTF2IRD2B Gene via IID

Gene Ontology (GO) - Biological Process for GTF2IRD2B 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 GTF2IRD2B: view

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

Transcripts for GTF2IRD2B Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GTF2IRD2B Gene

GeneLoc Exon Structure for
GTF2IRD2B
ECgene alternative splicing isoforms for
GTF2IRD2B

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



Protein tissue co-expression partners for GTF2IRD2B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GTF2IRD2B Gene:

GTF2IRD2B

mRNA Expression by UniProt/SwissProt for GTF2IRD2B Gene:

Q6EKJ0-GTD2B_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with GTF2IRD2B: 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 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
chimpanzee
(Pan troglodytes)
Mammalia GTF2IRD2 35
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 89 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gtf2ird2 35
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 33 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493752 34
  • 49.63 (n)
zebrafish
(Danio rerio)
Actinopterygii CR538726.1 35
  • 39 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
ManyToMany
Species where no ortholog for GTF2IRD2B 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 GTF2IRD2B Gene

ENSEMBL:
Gene Tree for GTF2IRD2B (if available)
TreeFam:
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.org 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
rs1057611 -- 75,122,186(+) AGCCC(C/T)GCATC intron-variant
rs10949823 -- 75,127,216(-) CAGTC(A/G)TGAGC intron-variant
rs111297933 -- 75,140,624(-) ACCCA(A/G)GAGAC intron-variant
rs111536767 -- 75,104,213(-) CCCAG(A/G)AGGCG intron-variant
rs111648877 -- 75,109,991(+) GAAAC(A/C)TTAGC intron-variant

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

Variant ID Type Subtype PubMed ID
esv3352039 CNV duplication 20981092
esv3613720 CNV loss 21293372
nsv1032137 CNV gain 25217958
nsv1078025 CNV duplication 25765185
nsv1128951 CNV duplication 24896259
nsv528969 CNV gain 19592680
nsv607499 CNV loss 21841781
nsv7402 OTHER inversion 18451855
nsv8146 CNV gain 18304495
nsv831034 CNV loss 17160897
nsv970883 CNV duplication 23825009

Variation tolerance for GTF2IRD2B Gene

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

Relevant External Links for GTF2IRD2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GTF2IRD2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GTF2IRD2B Gene

Disorders for GTF2IRD2B Gene

MalaCards: The human disease database

(2) MalaCards diseases for GTF2IRD2B 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

GTD2B_HUMAN
  • 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:
GTF2IRD2B
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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 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 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. 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) 4 64

Products for GTF2IRD2B Gene

Sources for GTF2IRD2B Gene

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