IRF2BPL

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)
End	77,028,708 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	86,931,572 bp
RNA expression pattern
	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
	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
	64207
	238330
	ENSG00000119669
	ENSMUSG00000034168
	Q9H1B7
	Q8K3X4
	NM_024496
	NM_145836
	NP_078772
	NP_665835
	Wikidata
View/Edit Human	View/Edit Mouse

Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. Mutations are associated with neurological problems. 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.