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

Gene ID: 64207, updated on 5-Nov-2023

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
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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
Compare labs

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)

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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_024496.4NP_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)