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

    Gene ID: 64207, updated on 17-Mar-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IRF2BPL in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (77024543..77028708, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (71234286..71238439, complement)
    105.20220307 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 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    NEW Try the new Transcript table

    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_024496.4NP_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:715759
      RING; Ring finger
      pfam11261
      Location:1061
      IRF-2BP1_2; Interferon regulatory factor 2-binding protein zinc finger

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)