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

Gene ID: 64207, updated on 6-Jan-2019

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
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

Genomic context

See IRF2BPL in Genome Data Viewer
Location:
14q24.3
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (77024543..77028699, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (77490886..77495042, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 356, pseudogene Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 1 Neighboring gene arf-GAP with GTPase, ANK repeat and PH domain-containing protein 2 Neighboring gene uncharacterized LOC105370579 Neighboring gene VISTA enhancer hs1903 Neighboring gene long intergenic non-protein coding RNA 2288

Genomic regions, transcripts, and products

Phenotypes

Associated conditions

Description Tests
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
MedGen: CN252701 OMIM: 618088 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1865

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Component Evidence Code Pubs
extracellular space HDA PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
interferon regulatory factor 2-binding protein-like
Names
enhanced at puberty 1
enhanced at puberty protein 1

NCBI Reference Sequences (RefSeq)

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  interferon regulatory factor 2-binding protein-like

    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
    Q9H1B7
    Related
    ENSP00000238647.3, ENST00000238647.4
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    77024543..77028699 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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