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    IRF2BPL interferon regulatory factor 2 binding protein like [ Homo sapiens (human) ]

    Gene ID: 64207, updated on 3-Nov-2024

    Summary

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    Official Symbol
    IRF2BPLprovided by HGNC
    Official Full Name
    interferon regulatory factor 2 binding protein likeprovided by HGNC
    Primary source
    HGNC:HGNC:14282
    See related
    Ensembl:ENSG00000119669 MIM:611720; AllianceGenome:HGNC:14282
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EAP1; C14orf4; NEDAMSS
    Summary
    This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
    Orthologs
    mouse all
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    Genomic context

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    See IRF2BPL in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77024543..77028708, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71234286..71238439, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77490886..77495051, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:77435045-77435585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77437073-77437574 Neighboring gene RNA, 7SL, cytoplasmic 356, pseudogene Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77444395-77444896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77446989-77447488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77459676-77460176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77460177-77460677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77461395-77461903 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77467477-77468181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:77473739-77474268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77479792-77480588 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77480589-77481385 Neighboring gene Sharpr-MPRA regulatory region 8154 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:77490390-77490615 Neighboring gene uncharacterized LOC107984638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77496104-77496624 Neighboring gene uncharacterized LOC105370579 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77499197-77499746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5964 Neighboring gene VISTA enhancer hs1903 Neighboring gene long intergenic non-protein coding RNA 2288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:77519369-77519932 Neighboring gene Sharpr-MPRA regulatory region 7445 Neighboring gene long intergenic non-protein coding RNA 2289

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. Rampazzo A, et al. Biochem Biophys Res Commun, 2000 Nov 30. PMID 11095982
    2. Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration. Antonelli F, et al. Parkinsonism Relat Disord, 2022 Jan. PMID 34864472
    3. [Clinical features of epilepsy in children with IRF2BPL gene variation]. Niu Q, et al. Zhonghua Er Ke Za Zhi, 2021 Jun 2. PMID 34102826
    4. IRF2BPL gene variants: One new case. Spagnoli C, et al. Am J Med Genet A, 2020 Jan. PMID 31729144
    5. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Tran Mau-Them F, et al. Genet Med, 2019 Apr. PMID 30166628

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.
      Title: Genetic analysis of IRF2BPL in a Taiwanese dystonia cohort: The genotype and phenotype correlation.
    2. De novo variants of IRF2BPL result in developmental epileptic disorder.
      Title: De novo variants of IRF2BPL result in developmental epileptic disorder.
    3. IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
      Title: IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
    4. Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.
      Title: Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration.
    5. [Clinical features of epilepsy in children with IRF2BPL gene variation].
      Title: [Clinical features of epilepsy in children with IRF2BPL gene variation].
    6. IRF2BPL gene variants: One new case.
      Title: IRF2BPL gene variants: One new case.
    7. These data support the causative role of truncating IRF2BPL variants in pediatric neurodegeneration and expand the spectrum of transcriptional regulators identified as molecular factors implicated in genetic developmental and epileptic encephalopathies.
      Title: De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
    8. C14orf4 encodes a transcriptional regulator that, acting within the neuroendocrine brain, contributes to controlling female reproductive function
      Title: Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
    MedGen: C4748127 OMIM: 618088 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1865

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in development of secondary female sexual characteristics ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in extracellular space HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    probable E3 ubiquitin-protein ligase IRF2BPL
    Names
    E3 ubiquitin-protein ligase IRF2BPL
    enhanced at puberty 1
    enhanced at puberty protein 1
    NP_078772.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_024496.4 → NP_078772.1  probable E3 ubiquitin-protein ligase IRF2BPL

      See identical proteins and their annotated locations for NP_078772.1

      Status: REVIEWED

      Source sequence(s)
      AC007686, BC108292
      Consensus CDS
      CCDS9854.1
      UniProtKB/Swiss-Prot
      Q8NDQ2, Q96JG2, Q9H1B7, Q9H3I7
      Related
      ENSP00000238647.3, ENST00000238647.5
      Conserved Domains (2) summary
      smart00184
      Location:715 → 759
      RING; Ring finger
      pfam11261
      Location:10 → 61
      IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      77024543..77028708 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      71234286..71238439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1B7.1 GenPept UniProtKB/Swiss-Prot:Q9H1B7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools