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Aliases for IRF2BPL Gene

Aliases for IRF2BPL Gene

  • Interferon Regulatory Factor 2 Binding Protein Like 2 3 5
  • Enhanced At Puberty Protein 1 3 4
  • Enhanced At Puberty 1 2 3
  • C14orf4 3 4
  • EAP1 3 4
  • Interferon Regulatory Factor 2 Binding Protein-Like 2
  • Interferon Regulatory Factor 2-Binding Protein-Like 3
  • Chromosome 14 Open Reading Frame 4 2
  • KIAA1865 4

External Ids for IRF2BPL Gene

Previous HGNC Symbols for IRF2BPL Gene

  • C14orf4

Previous GeneCards Identifiers for IRF2BPL Gene

  • GC14M077491

Summaries for IRF2BPL Gene

Entrez Gene Summary for IRF2BPL Gene

  • This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]

GeneCards Summary for IRF2BPL Gene

IRF2BPL (Interferon Regulatory Factor 2 Binding Protein Like) is a Protein Coding gene. Diseases associated with IRF2BPL include Arrhythmogenic Right Ventricular Dysplasia, Familial, 1. An important paralog of this gene is IRF2BP2.

UniProtKB/Swiss-Prot for IRF2BPL Gene

  • 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.

Gene Wiki entry for IRF2BPL Gene

Additional gene information for IRF2BPL Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRF2BPL Gene

Genomics for IRF2BPL Gene

GeneHancer (GH) Regulatory Elements for IRF2BPL Gene

Promoters and enhancers for IRF2BPL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I077021 Promoter/Enhancer 3.1 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 577.4 -5.7 -5680 25.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 IRF2BPL LOC105370579 SNW1 ALKBH1 RPL22P2 VIPAS39 POMT2 ZMYND19P1 GPATCH2L RPL21P10
GH14I076949 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE dbSUPER 24.7 +72.1 72147 13.9 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 LINC01629 IRF2BPL SNW1 ALKBH1 ZMYND19P1 RPL22P2 VIPAS39 VASH1 ENSG00000243225 LINC02288
GH14I077096 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.6 -69.8 -69766 4.4 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B CIPC ENSG00000259164 GC14M077096 SNW1 VIPAS39 ZMYND19P1 RPL22P2 ALKBH1 IRF2BPL GPATCH2L
GH14I076915 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 15 +105.3 105283 15.3 HDGF PKNOX1 CLOCK SIN3A YBX1 FEZF1 ZNF2 YY1 ZNF207 ZNF143 ENSG00000259058 IRF2BPL ENSG00000243225 LINC01629 TGFB3-AS1 ZDHHC22 VASH1 NGB CIPC PIR46005
GH14I076767 Enhancer 1.2 Ensembl ENCODE dbSUPER 24.3 +260.2 260213 2.2 PKNOX1 ZFP64 SIN3A BATF TCF12 IKZF2 RUNX3 CREM ZC3H11A REST VIPAS39 SNW1 ALKBH1 ZMYND19P1 GPATCH2L RPL22P2 IRF2BPL RPL21P10 POMT2 ENSG00000259081
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IRF2BPL on UCSC Golden Path with GeneCards custom track

Genomic Locations for IRF2BPL Gene

Genomic Locations for IRF2BPL Gene
chr14:77,024,543-77,028,699
(GRCh38/hg38)
Size:
4,157 bases
Orientation:
Minus strand
chr14:77,490,886-77,495,034
(GRCh37/hg19)

Genomic View for IRF2BPL Gene

Genes around IRF2BPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRF2BPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRF2BPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRF2BPL Gene

Proteins for IRF2BPL Gene

  • Protein details for IRF2BPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1B7-I2BPL_HUMAN
    Recommended name:
    Interferon regulatory factor 2-binding protein-like
    Protein Accession:
    Q9H1B7
    Secondary Accessions:
    • Q8NDQ2
    • Q96JG2
    • Q9H3I7

    Protein attributes for IRF2BPL Gene

    Size:
    796 amino acids
    Molecular mass:
    82659 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB47494.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IRF2BPL Gene

neXtProt entry for IRF2BPL Gene

Post-translational modifications for IRF2BPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IRF2BPL Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for IRF2BPL Gene

Domains & Families for IRF2BPL Gene

Gene Families for IRF2BPL Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for IRF2BPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H1B7

UniProtKB/Swiss-Prot:

I2BPL_HUMAN :
  • Belongs to the IRF2BP family.
Family:
  • Belongs to the IRF2BP family.
genes like me logo Genes that share domains with IRF2BPL: view

Function for IRF2BPL Gene

Molecular function for IRF2BPL Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for IRF2BPL Gene

Gene Ontology (GO) - Molecular Function for IRF2BPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with IRF2BPL: view
genes like me logo Genes that share phenotypes with IRF2BPL: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IRF2BPL Gene

Localization for IRF2BPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRF2BPL Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRF2BPL gene
Compartment Confidence
extracellular 5
nucleus 5
mitochondrion 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IRF2BPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA,HDA 22664934
GO:0005634 nucleus NAS,ISS 11095982
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with IRF2BPL: view

Pathways & Interactions for IRF2BPL Gene

SuperPathways for IRF2BPL Gene

No Data Available

Gene Ontology (GO) - Biological Process for IRF2BPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 17627301
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 17627301
GO:0046543 development of secondary female sexual characteristics ISS 17627301
genes like me logo Genes that share ontologies with IRF2BPL: view

No data available for Pathways by source and SIGNOR curated interactions for IRF2BPL Gene

Drugs & Compounds for IRF2BPL Gene

No Compound Related Data Available

Transcripts for IRF2BPL Gene

mRNA/cDNA for IRF2BPL Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(83) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IRF2BPL Gene

Interferon regulatory factor 2 binding protein-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for IRF2BPL Gene

No ASD Table

Relevant External Links for IRF2BPL Gene

GeneLoc Exon Structure for
IRF2BPL
ECgene alternative splicing isoforms for
IRF2BPL

Expression for IRF2BPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IRF2BPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for IRF2BPL Gene



Protein tissue co-expression partners for IRF2BPL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IRF2BPL Gene:

IRF2BPL

SOURCE GeneReport for Unigene cluster for IRF2BPL Gene:

Hs.179260

mRNA Expression by UniProt/SwissProt for IRF2BPL Gene:

Q9H1B7-I2BPL_HUMAN
Tissue specificity: Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes.

Evidence on tissue expression from TISSUES for IRF2BPL Gene

  • Nervous system(4.3)
  • Liver(4.1)
genes like me logo Genes that share expression patterns with IRF2BPL: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for IRF2BPL Gene

Orthologs for IRF2BPL Gene

This gene was present in the common ancestor of animals.

Orthologs for IRF2BPL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IRF2BPL 33 34
  • 99.15 (n)
dog
(Canis familiaris)
Mammalia IRF2BPL 33 34
  • 93.76 (n)
cow
(Bos Taurus)
Mammalia IRF2BPL 33 34
  • 92.03 (n)
rat
(Rattus norvegicus)
Mammalia Irf2bpl 33
  • 88.49 (n)
mouse
(Mus musculus)
Mammalia Irf2bpl 33 16 34
  • 87.98 (n)
oppossum
(Monodelphis domestica)
Mammalia IRF2BPL 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves C14ORF4 33
  • 80.49 (n)
IRF2BPL 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irf2bpl 33
  • 66.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69079 33
zebrafish
(Danio rerio)
Actinopterygii irf2bpl 33 34
  • 71.4 (n)
Dr.28844 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8814 33
fruit fly
(Drosophila melanogaster)
Insecta CG11138 34
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-260 34
  • 27 (a)
OneToMany
Species where no ortholog for IRF2BPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for IRF2BPL Gene

ENSEMBL:
Gene Tree for IRF2BPL (if available)
TreeFam:
Gene Tree for IRF2BPL (if available)

Paralogs for IRF2BPL Gene

Paralogs for IRF2BPL Gene

(1) SIMAP similar genes for IRF2BPL Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with IRF2BPL: view

Variants for IRF2BPL Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IRF2BPL Gene

I2BPL_HUMAN-Q9H1B7
The poly-Gln region is polymorphic; the most frequent allele contained 24 Gln. Stretches of 20-31 Gln are observed in healthy individuals.

Sequence variations from dbSNP and Humsavar for IRF2BPL Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000786695 -- 77,027,999(-) C/T 5_prime_UTR_variant
rs1001341739 -- 77,026,299(-) G/C coding_sequence_variant, synonymous_variant
rs1001376848 -- 77,025,060(-) C/T 3_prime_UTR_variant
rs1001678175 -- 77,028,624(-) C/T 5_prime_UTR_variant
rs1002213895 -- 77,028,451(-) C/T 5_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for IRF2BPL Gene

Variant ID Type Subtype PubMed ID
nsv510384 OTHER sequence alteration 20534489
nsv565210 CNV loss 21841781

Variation tolerance for IRF2BPL Gene

Residual Variation Intolerance Score: 9.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.62; 31.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRF2BPL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRF2BPL

Disorders for IRF2BPL Gene

MalaCards: The human disease database

(1) MalaCards diseases for IRF2BPL Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for IRF2BPL

genes like me logo Genes that share disorders with IRF2BPL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IRF2BPL Gene

Publications for IRF2BPL Gene

  1. Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis. (PMID: 17627301) Heger S … Ojeda SR (The Journal of clinical investigation 2007) 2 3 4 58
  2. Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. (PMID: 11095982) Rampazzo A … Danieli GA (Biochemical and biophysical research communications 2000) 2 3 4 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R … Weissenbach J (Nature 2003) 3 4 58
  5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4 58

Products for IRF2BPL Gene

Sources for IRF2BPL Gene

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