Human Gene GTF2IRD2P1 (uc003txs.1) Description and Page Index
  Description: Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.
Transcript (Including UTRs)
   Position: hg19 chr7:72,656,902-72,685,658 Size: 28,757 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr7:72,657,247-72,663,972 Size: 6,726 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsGene AllelesRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Model InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:72,656,902-72,685,658)mRNA (may differ from genome)Protein (578 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
LynxMGIneXtProtPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; Short=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta;
DISEASE: 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.
SIMILARITY: Belongs to the TFII-I family.
SIMILARITY: Contains 2 GTF2I-like repeats.
SEQUENCE CAUTION: Sequence=BAB15060.1; Type=Erroneous initiation; Sequence=BAC04576.1; Type=Erroneous initiation;

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.91 RPKM in Ovary
Total median expression: 36.97 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -278.60928-0.300 Picture PostScript Text
3' UTR -121.50345-0.352 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004212 - GTF2I
IPR012337 - RNaseH-like_dom
IPR015880 - Znf_C2H2-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help


ModBase Predicted Comparative 3D Structure on Q6EKJ0
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm

-  Descriptions from all associated GenBank mRNAs
  AY312852 - Homo sapiens general transcription factor II i repeat domain 2 (GTF2IRD2P) pseudogene mRNA, complete sequence.
JD505215 - Sequence 486239 from Patent EP1572962.
JD272881 - Sequence 253905 from Patent EP1572962.
JD318103 - Sequence 299127 from Patent EP1572962.
JD416223 - Sequence 397247 from Patent EP1572962.
JD426801 - Sequence 407825 from Patent EP1572962.
JD256014 - Sequence 237038 from Patent EP1572962.
JD326507 - Sequence 307531 from Patent EP1572962.
JD021920 - Sequence 2944 from Patent EP1572962.
JD467767 - Sequence 448791 from Patent EP1572962.
JD480904 - Sequence 461928 from Patent EP1572962.
JD407925 - Sequence 388949 from Patent EP1572962.
JD258886 - Sequence 239910 from Patent EP1572962.
JD353182 - Sequence 334206 from Patent EP1572962.
JD032866 - Sequence 13890 from Patent EP1572962.
JD180805 - Sequence 161829 from Patent EP1572962.
JD547906 - Sequence 528930 from Patent EP1572962.
JD144926 - Sequence 125950 from Patent EP1572962.
AK123716 - Homo sapiens cDNA FLJ41722 fis, clone HLUNG2013643.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RNE9, GTD2B_HUMAN, GTF2IRD2B, NR_002164, Q69GU6, Q6EKJ0, Q8N979, Q9H739, uc011ket.2
UCSC ID: uc003txs.1
RefSeq Accession: NR_002164
Protein: Q6EKJ0 (aka GTD2B_HUMAN)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NR_002164.1
exon count: 13CDS single in 3' UTR: no RNA size: 3010
ORF size: 1737CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 959.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.