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

Aliases for IRF2BPL Gene

Aliases for IRF2BPL Gene

  • Interferon Regulatory Factor 2 Binding Protein Like 2 3 5
  • Probable E3 Ubiquitin-Protein Ligase IRF2BPL 3 4
  • 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 4
  • Interferon Regulatory Factor 2 Binding Protein-Like 2
  • Chromosome 14 Open Reading Frame 4 2
  • EC 2.3.2.27 4
  • KIAA1865 4
  • NEDAMSS 3

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 Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures. An important paralog of this gene is IRF2BP2.

UniProtKB/Swiss-Prot Summary for IRF2BPL Gene

  • Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway (PubMed:29374064). Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (By similarity).

Gene Wiki entry for IRF2BPL Gene

Additional gene information for IRF2BPL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRF2BPL Gene

Genomics for IRF2BPL Gene

GeneHancer (GH) Regulatory Elements for IRF2BPL Gene

Promoters and enhancers for IRF2BPL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRF2BPL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRF2BPL

Genomic Locations for IRF2BPL Gene

Genomic Locations for IRF2BPL Gene
chr14:77,024,543-77,028,708
(GRCh38/hg38)
Size:
4,166 bases
Orientation:
Minus strand
chr14:77,490,886-77,495,034
(GRCh37/hg19)
Size:
4,149 bases
Orientation:
Minus strand

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:
    Probable E3 ubiquitin-protein ligase IRF2BPL
    Protein Accession:
    Q9H1B7
    Secondary Accessions:
    • Q8NDQ2
    • Q96JG2
    • Q9H3I7

    Protein attributes for IRF2BPL Gene

    Size:
    796 amino acids
    Molecular mass:
    82659 Da
    Quaternary structure:
    • Interacts with CTNNB1.
    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

Protein Domains for IRF2BPL Gene

Suggested Antigen Peptide Sequences for IRF2BPL Gene

GenScript: Design optimal peptide antigens:
  • Enhanced at puberty protein 1 (I2BPL_HUMAN)

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:
Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signaling pathway (PubMed:29374064). Probably plays a role in the development of the central nervous system and in neuronal maintenance (Probable). Also acts as a transcriptional regulator of genes controlling female reproductive function. May play a role in gene transcription by transactivating GNRH1 promoter and repressing PENK promoter (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=. ;.

Enzyme Numbers (IUBMB) for IRF2BPL Gene

Phenotypes From GWAS Catalog for IRF2BPL Gene

Gene Ontology (GO) - Molecular Function for IRF2BPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 29374064
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with IRF2BPL: view
genes like me logo Genes that share phenotypes with IRF2BPL: view

Human Phenotype Ontology for IRF2BPL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF2BPL

Clone Products

No data available for 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
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
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 HDA 22664934
GO:0005634 nucleus ISS,NAS 11095982
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with IRF2BPL: view

Pathways & Interactions for IRF2BPL Gene

PathCards logo

SuperPathways for IRF2BPL Gene

No Data Available

UniProtKB/Swiss-Prot Q9H1B7-I2BPL_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

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:0007399 nervous system development IMP 30057031
GO:0016567 protein ubiquitination IEA --
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 :
14 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF2BPL

Clone 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

Expression for IRF2BPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for IRF2BPL Gene



Protein tissue co-expression partners for IRF2BPL Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia IRF2BPL 31 30
  • 93.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia IRF2BPL 31 30
  • 92.03 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Irf2bpl 30
  • 88.49 (n)
mouse
(Mus musculus)
Mammalia Irf2bpl 17 31 30
  • 87.98 (n)
oppossum
(Monodelphis domestica)
Mammalia IRF2BPL 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves C14ORF4 30
  • 80.49 (n)
IRF2BPL 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia irf2bpl 30
  • 66.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69079 30
zebrafish
(Danio rerio)
Actinopterygii irf2bpl 31 30
  • 71.4 (n)
OneToOne
Dr.28844 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8814 30
fruit fly
(Drosophila melanogaster)
Insecta CG11138 31
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-260 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for IRF2BPL: view image

Paralogs for IRF2BPL Gene

Paralogs for IRF2BPL Gene

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

  • I2BPL_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRF2BPL Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
692072 Likely Pathogenic: Neurodevelopmental disorder 77,027,470(-) TGTTGCTGTTGCTGTT FRAMESHIFT_VARIANT
803038 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 77,027,184(-) TGTTGGTTTGG/T FRAMESHIFT_VARIANT
807150 Likely Pathogenic: not provided 77,027,438(-) G/A NONSENSE
rs1292724234 Pathogenic: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 77,027,414(-) G/A NONSENSE
rs1345176461 Pathogenic/Likely Pathogenic: IRF2BPL-related condition; NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 77,027,231(-) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for IRF2BPL Gene

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: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

I2BPL_HUMAN
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) [MIM:618088]: An autosomal dominant disorder characterized by global developmental delay or neurodevelopmental regression, hypotonia, progressive ataxia, intellectual disability, seizures, and abnormal movements. {ECO:0000269 PubMed:30057031, ECO:0000269 PubMed:30166628}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IRF2BPL

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

No data available for 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 54
  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 54
  3. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. (PMID: 30166628) Tran Mau-Them F … Vitobello A (Genetics in medicine : official journal of the American College of Medical Genetics 2019) 3 4 54
  4. Forkhead Box F2 Suppresses Gastric Cancer through a Novel FOXF2-IRF2BPL-β-Catenin Signaling Axis. (PMID: 29374064) Higashimori A … Yu J (Cancer research 2018) 3 4 54
  5. IRF2BPL Is Associated with Neurological Phenotypes. (PMID: 30057031) Marcogliese PC … Pena LDM (American journal of human genetics 2018) 3 4 54

Products for IRF2BPL Gene

Sources for IRF2BPL Gene