IRF2BPL

Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene.^[5][6][7] Mutations are associated with neurological problems.^[8] More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.

IRF2BPL
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CS3
Identifiers
Aliases	IRF2BPL, C14orf4, EAP1, interferon regulatory factor 2 binding protein like, enhanced at puberty protein 1, NEDAMSS
External IDs	OMIM: 611720; MGI: 2442463; HomoloGene: 11555; GeneCards: IRF2BPL; OMA:IRF2BPL - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q24.3 Start 77,024,543 bp[1] End 77,028,708 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 D2 Start 86,927,475 bp[2] End 86,931,572 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in germinal epithelium cardiac muscle tissue of right atrium endothelial cell parotid gland pancreatic epithelial cell epithelium of lactiferous gland lactiferous duct myocardium of left ventricle visceral pleura skin of arm Top expressed in molar interventricular septum left lung lobe cervix hand renal corpuscle medial ganglionic eminence parotid gland transitional epithelium of urinary bladder superior cervical ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription activator activity, RNA polymerase II-specific molecular function protein binding ubiquitin protein ligase activity transferase activity Cellular component nucleus nucleoplasm extracellular space ubiquitin ligase complex Biological process negative regulation of transcription by RNA polymerase II positive regulation of transcription by RNA polymerase II development of secondary female sexual characteristics nervous system development protein ubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64207 238330 Ensembl ENSG00000119669 ENSMUSG00000034168 UniProt Q9H1B7 Q8K3X4 RefSeq (mRNA) NM_024496 NM_145836 RefSeq (protein) NP_078772 NP_665835 Location (UCSC) Chr 14: 77.02 – 77.03 Mb Chr 12: 86.93 – 86.93 Mb PubMed search [3] [4]
Wikidata
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Research into IRF2BPL-Related Disorder (NEDAMSS) is ongoing, with multiple academic and clinical groups investigating the gene’s role in neurodevelopment and potential therapeutic approaches. Nonprofit organizations, such as Tough Genes, are working to support these efforts to translate research into a cure.