Human Gene IRF2BPL (ENST00000238647.5_6) from GENCODE V47lift37
  Description: interferon regulatory factor 2 binding protein like (from RefSeq NM_024496.4)
Gencode Transcript: ENST00000238647.5_6
Gencode Gene: ENSG00000119669.5_8
Transcript (Including UTRs)
   Position: hg19 chr14:77,490,886-77,495,051 Size: 4,166 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr14:77,491,745-77,494,135 Size: 2,391 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:77,490,886-77,495,051)mRNA (may differ from genome)Protein (796 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: I2BPL_HUMAN
DESCRIPTION: RecName: Full=Interferon regulatory factor 2-binding protein-like; AltName: Full=Enhanced at puberty protein 1;
FUNCTION: May contribute to the control of female reproductive function (By similarity). May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter.
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes.
POLYMORPHISM: The poly-Gln region is polymorphic; the most frequent allele contained 24 Gln. Stretches of 20-31 Gln are observed in healthy individuals.
SIMILARITY: Belongs to the IRF2BP family.
SIMILARITY: Contains 1 RING-type zinc finger.
SEQUENCE CAUTION: Sequence=BAB47494.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: IRF2BPL
Diseases sorted by gene-association score: arrhythmogenic right ventricular dysplasia 1 (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: 36.54 RPKM in Fallopian Tube
Total median expression: 787.37 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 -470.10916-0.513 Picture PostScript Text
3' UTR -227.10859-0.264 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
IPR013083 - Znf_RING/FYVE/PHD

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

SCOP Domains:
57850 - RING/U-box

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2B9G - Model 2CS3 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q9H1B7
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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046543 development of secondary female sexual characteristics

Cellular Component:
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  LF209611 - JP 2014500723-A/17114: Polycomb-Associated Non-Coding RNAs.
AF075110 - Homo sapiens full length insert cDNA YU41G07.
AL832320 - Homo sapiens mRNA; cDNA DKFZp547G0615 (from clone DKFZp547G0615).
BC042460 - Homo sapiens cDNA clone IMAGE:4820027, containing frame-shift errors.
BC152431 - Homo sapiens cDNA clone IMAGE:8862548.
BC108292 - Homo sapiens cDNA clone IMAGE:30338685.
AB058768 - Homo sapiens mRNA for KIAA1865 protein, partial cds.
JD272175 - Sequence 253199 from Patent EP1572962.
JD374884 - Sequence 355908 from Patent EP1572962.
LF330128 - JP 2014500723-A/137631: Polycomb-Associated Non-Coding RNAs.
JD314097 - Sequence 295121 from Patent EP1572962.
AF063597 - Homo sapiens brain my039 protein mRNA, complete cds.
JD067175 - Sequence 48199 from Patent EP1572962.
JD371550 - Sequence 352574 from Patent EP1572962.
JD322093 - Sequence 303117 from Patent EP1572962.
JD277806 - Sequence 258830 from Patent EP1572962.
JD318928 - Sequence 299952 from Patent EP1572962.
JD311383 - Sequence 292407 from Patent EP1572962.
LF330130 - JP 2014500723-A/137633: Polycomb-Associated Non-Coding RNAs.
JD159362 - Sequence 140386 from Patent EP1572962.
JD066305 - Sequence 47329 from Patent EP1572962.
JD257538 - Sequence 238562 from Patent EP1572962.
JD289379 - Sequence 270403 from Patent EP1572962.
JD164423 - Sequence 145447 from Patent EP1572962.
JD261435 - Sequence 242459 from Patent EP1572962.
JD255914 - Sequence 236938 from Patent EP1572962.
JD389711 - Sequence 370735 from Patent EP1572962.
JD137793 - Sequence 118817 from Patent EP1572962.
LF330132 - JP 2014500723-A/137635: Polycomb-Associated Non-Coding RNAs.
JD445410 - Sequence 426434 from Patent EP1572962.
JD224457 - Sequence 205481 from Patent EP1572962.
JD458587 - Sequence 439611 from Patent EP1572962.
JD458515 - Sequence 439539 from Patent EP1572962.
JD056230 - Sequence 37254 from Patent EP1572962.
JD056229 - Sequence 37253 from Patent EP1572962.
JD271291 - Sequence 252315 from Patent EP1572962.
JD458510 - Sequence 439534 from Patent EP1572962.
JD406055 - Sequence 387079 from Patent EP1572962.
JD458514 - Sequence 439538 from Patent EP1572962.
JD271292 - Sequence 252316 from Patent EP1572962.
JD057274 - Sequence 38298 from Patent EP1572962.
JD406801 - Sequence 387825 from Patent EP1572962.
JD461601 - Sequence 442625 from Patent EP1572962.
JD056228 - Sequence 37252 from Patent EP1572962.
JD458513 - Sequence 439537 from Patent EP1572962.
JD458511 - Sequence 439535 from Patent EP1572962.
JD458512 - Sequence 439536 from Patent EP1572962.
JD462061 - Sequence 443085 from Patent EP1572962.
JD268115 - Sequence 249139 from Patent EP1572962.
JD415927 - Sequence 396951 from Patent EP1572962.
JD415928 - Sequence 396952 from Patent EP1572962.
JD425656 - Sequence 406680 from Patent EP1572962.
JD408991 - Sequence 390015 from Patent EP1572962.
LF330133 - JP 2014500723-A/137636: Polycomb-Associated Non-Coding RNAs.
JD325334 - Sequence 306358 from Patent EP1572962.
JD460535 - Sequence 441559 from Patent EP1572962.
JD217297 - Sequence 198321 from Patent EP1572962.
JD404806 - Sequence 385830 from Patent EP1572962.
JD491607 - Sequence 472631 from Patent EP1572962.
JD104274 - Sequence 85298 from Patent EP1572962.
JD390545 - Sequence 371569 from Patent EP1572962.
JD523127 - Sequence 504151 from Patent EP1572962.
JD399227 - Sequence 380251 from Patent EP1572962.
LF330134 - JP 2014500723-A/137637: Polycomb-Associated Non-Coding RNAs.
JD381418 - Sequence 362442 from Patent EP1572962.
JD289062 - Sequence 270086 from Patent EP1572962.
JD258882 - Sequence 239906 from Patent EP1572962.
JD366956 - Sequence 347980 from Patent EP1572962.
JD406028 - Sequence 387052 from Patent EP1572962.
JD142864 - Sequence 123888 from Patent EP1572962.
MA565705 - JP 2018138019-A/137631: Polycomb-Associated Non-Coding RNAs.
MA565707 - JP 2018138019-A/137633: Polycomb-Associated Non-Coding RNAs.
MA565709 - JP 2018138019-A/137635: Polycomb-Associated Non-Coding RNAs.
MA565710 - JP 2018138019-A/137636: Polycomb-Associated Non-Coding RNAs.
MA565711 - JP 2018138019-A/137637: Polycomb-Associated Non-Coding RNAs.
MA445188 - JP 2018138019-A/17114: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C14orf4, EAP1, ENST00000238647.1, ENST00000238647.2, ENST00000238647.3, ENST00000238647.4, I2BPL_HUMAN, KIAA1865, My039, NM_024496, Q8NDQ2, Q96JG2, Q9H1B7, Q9H3I7, uc317eee.1, uc317eee.2
UCSC ID: ENST00000238647.5_6
RefSeq Accession: NM_024496.4
Protein: Q9H1B7 (aka I2BPL_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene IRF2BPL:
irf2bpl-dis (IRF2BPL-Related Disorder)

-  Gene Model Information
  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.