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) [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
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. ^{[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.

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.

References

1. GRCh38: Ensembl release 89: ENSG00000119669 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000034168 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Rampazzo A, Pivotto F, Occhi G, Tiso N, Bortoluzzi S, Rowen L, Hood L, Nava A, Danieli GA (Nov 2000). "Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region". Biochemical and Biophysical Research Communications. 278 (3): 766–74. doi:10.1006/bbrc.2000.3883. PMID   11095982.
6. Heger S, Mastronardi C, Dissen GA, Lomniczi A, Cabrera R, Roth CL, Jung H, Galimi F, Sippell W, Ojeda SR (Aug 2007). "Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis". The Journal of Clinical Investigation. 117 (8): 2145–54. doi:10.1172/JCI31752. PMC   1906733 . PMID   17627301.
7. "IRF2BPL interferon regulatory factor 2 binding protein like [ Homo sapiens (human) ]".
8. Paul C. Marcogliese; et al. (2018). "IRF2BPL Is Associated with Neurological Phenotypes". American Journal of Human Genetics. 103 (2): 245–260. doi:10.1016/j.ajhg.2018.07.006. PMC   6081494 . PMID   30057031.

External links

• Human IRF2BPL genome location and IRF2BPL gene details page in the UCSC Genome Browser .
• Tough Genes IRF2BPL NEDAMSS Foundation https://www.toughgenes.org/
• Parent Group Europe http://irf2bpl.de

Further reading

• Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (Apr 2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 8 (2): 85–95. doi: 10.1093/dnares/8.2.85 . PMID   11347906.
• Scott MP, Zappacosta F, Kim EY, Annan RS, Miller WT (Aug 2002). "Identification of novel SH3 domain ligands for the Src family kinase Hck. Wiskott-Aldrich syndrome protein (WASP), WASP-interacting protein (WIP), and ELMO1". The Journal of Biological Chemistry. 277 (31): 28238–46. doi: 10.1074/jbc.M202783200 . PMID   12029088.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (Aug 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (Nov 2004). "Phosphoproteomic analysis of the developing mouse brain". Molecular & Cellular Proteomics. 3 (11): 1093–101. doi: 10.1074/mcp.M400085-MCP200 . PMID   15345747.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983.