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

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: mouse all
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Genomic context

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
De novo variants of IRF2BPL result in developmental epileptic disorder.
Title: De novo variants of IRF2BPL result in developmental epileptic disorder.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Title: IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
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.
[Clinical features of epilepsy in children with IRF2BPL gene variation].
Title: [Clinical features of epilepsy in children with IRF2BPL gene variation].
IRF2BPL gene variants: One new case.
Title: IRF2BPL gene variants: One new case.
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.
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.

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Phenotypes

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

EC 2.3.2.27

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)

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