Human Gene IRF2BP2 (uc001hwg.3) Description and Page Index
  Description: Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA.
RefSeq Summary (NM_182972): This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:234,740,015-234,745,271 Size: 5,257 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr1:234,742,883-234,745,240 Size: 2,358 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:234,740,015-234,745,271)mRNA (may differ from genome)Protein (587 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMGIneXtProtOMIM
PubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: I2BP2_HUMAN
DESCRIPTION: RecName: Full=Interferon regulatory factor 2-binding protein 2; Short=IRF-2-binding protein 2; Short=IRF-2BP2;
FUNCTION: Acts as a transcriptional corepressor in a IRF2- dependent manner; this repression is not mediated by histone deacetylase activities. Represses the NFAT1-dependent transactivation of NFAT-responsive promoters. Acts as a coactivator of VEGFA expression in cardiac and skeletal muscle.
SUBUNIT: Interacts with IRF2. Part of a corepressor complex containing IRF2 and IRF2BP1. Interacts with VGLL4.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
DOMAIN: The C-terminal RING-type zinc finger domain is sufficient for interaction with IRF2.
PTM: Phosphorylation at Ser-360 is required for nuclear targeting.
SIMILARITY: Belongs to the IRF2BP family.
SIMILARITY: Contains 1 RING-type zinc finger.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): IRF2BP2
CDC HuGE Published Literature: IRF2BP2
Positive Disease Associations: Arrhythmias, Cardiac , Cholesterol , Cholesterol, HDL , Cholesterol, LDL , Glucose
Related Studies:
  1. Arrhythmias, Cardiac
    Sarah S Murray et al. PloS one 2012, Genome-wide association of implantable cardioverter-defibrillator activation with life-threatening arrhythmias., PloS one. [PubMed 22247754]
  2. Cholesterol
    Tanya M Teslovich et al. Nature 2010, Biological, clinical and population relevance of 95 loci for blood lipids., Nature. [PubMed 20686565]
  3. Cholesterol, HDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: IRF2BP2
Diseases sorted by gene-association score: mesenchymal chondrosarcoma (11), common variable immunodeficiency (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 64.64 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 1677.12 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.4031-0.174 Picture PostScript Text
3' UTR -799.122868-0.279 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
IPR022750 - Interferon_reg_fac2-bd1_2_Znf

Pfam Domains:
PF11261 - Interferon regulatory factor 2-binding protein zinc finger

SCOP Domains:
57850 - RING/U-box

ModBase Predicted Comparative 3D Structure on Q7Z5L9
FrontTopSide
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    
 RGDEnsembl   
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0046872 metal ion binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated

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


-  Descriptions from all associated GenBank mRNAs
  BC053539 - Homo sapiens cDNA clone IMAGE:5403752, partial cds.
BC020516 - Homo sapiens interferon regulatory factor 2 binding protein 2, mRNA (cDNA clone IMAGE:3882977), partial cds.
AK054864 - Homo sapiens cDNA FLJ30302 fis, clone BRACE2003254.
BC041989 - Homo sapiens cDNA clone IMAGE:5303857.
JD358555 - Sequence 339579 from Patent EP1572962.
JD115385 - Sequence 96409 from Patent EP1572962.
JD299422 - Sequence 280446 from Patent EP1572962.
JD042249 - Sequence 23273 from Patent EP1572962.
JD039954 - Sequence 20978 from Patent EP1572962.
JD171374 - Sequence 152398 from Patent EP1572962.
JD352261 - Sequence 333285 from Patent EP1572962.
JD535187 - Sequence 516211 from Patent EP1572962.
JD530917 - Sequence 511941 from Patent EP1572962.
JD495172 - Sequence 476196 from Patent EP1572962.
JD228765 - Sequence 209789 from Patent EP1572962.
JD349806 - Sequence 330830 from Patent EP1572962.
JD499018 - Sequence 480042 from Patent EP1572962.
JD103540 - Sequence 84564 from Patent EP1572962.
JD114031 - Sequence 95055 from Patent EP1572962.
JD299391 - Sequence 280415 from Patent EP1572962.
JD142933 - Sequence 123957 from Patent EP1572962.
JD553251 - Sequence 534275 from Patent EP1572962.
JD090580 - Sequence 71604 from Patent EP1572962.
JD394293 - Sequence 375317 from Patent EP1572962.
JD146797 - Sequence 127821 from Patent EP1572962.
JD450090 - Sequence 431114 from Patent EP1572962.
JD038177 - Sequence 19201 from Patent EP1572962.
AK300375 - Homo sapiens cDNA FLJ52600 complete cds, highly similar to Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), mRNA.
JD185608 - Sequence 166632 from Patent EP1572962.
JD557979 - Sequence 539003 from Patent EP1572962.
AK309579 - Homo sapiens cDNA, FLJ99620.
JD303693 - Sequence 284717 from Patent EP1572962.
JD053985 - Sequence 35009 from Patent EP1572962.
JD189869 - Sequence 170893 from Patent EP1572962.
AK299768 - Homo sapiens cDNA FLJ53526 complete cds, highly similar to Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), mRNA.
JD188582 - Sequence 169606 from Patent EP1572962.
BC065759 - Homo sapiens interferon regulatory factor 2 binding protein 2, mRNA (cDNA clone IMAGE:4618488), complete cds.
JD432879 - Sequence 413903 from Patent EP1572962.
BC028143 - Homo sapiens interferon regulatory factor 2 binding protein 2, mRNA (cDNA clone IMAGE:5214452), **** WARNING: chimeric clone ****.
JD486784 - Sequence 467808 from Patent EP1572962.
JD063635 - Sequence 44659 from Patent EP1572962.
AY278023 - Homo sapiens interferon regulatory factor-2 binding protein 2A mRNA, complete cds; alternatively spliced.
AY278024 - Homo sapiens interferon regulatory factor-2 binding protein 2B mRNA, complete cds; alternatively spliced.
BC160054 - Synthetic construct Homo sapiens clone IMAGE:100063990, MGC:193169 interferon regulatory factor 2 binding protein 2 (IRF2BP2) mRNA, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: B1AM35, B1AM36, I2BP2_HUMAN, NM_182972, NP_892017, Q6P083, Q7Z5L8, Q7Z5L9, Q8N351, Q8WUH8
UCSC ID: uc001hwg.3
RefSeq Accession: NM_182972
Protein: Q7Z5L9 (aka I2BP2_HUMAN)
CCDS: CCDS1602.1, CCDS41475.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_182972.2
exon count: 2CDS single in 3' UTR: no RNA size: 4677
ORF size: 1764CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3620.00frame shift in genome: no % Coverage: 99.70
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
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.