GeneID: 265


Common Name: N4BP2L2 Type: Gene
Chromosome: 13 (NC_000013.11) Locus: NM_033111.4 (N4BP2L2)
HUGO Symbol: N4BP2L2 Full Name: NEDD4 binding protein 2 like 2
Exons: 10 Introns: 9

N4BP2L2 (or PFAAP5) was identified by yeast two-hybrid screening to interact with the transcriptional repressor Gfi1 and neutrophil elastase ELA2, which are involved in the regulation of neutrophil production. It is a nuclear protein containing a predicted nuclear localization signal. The carboxyl domain shares similarity to B3BP (BCL-3-binding protein) by having a Walker motif A, which contributes to B3BP interaction with the BCL-3 oncoprotein and p300/CBP histone deacetylase. Hence, N4BP2L2 may act as a transcriptional regulatory protein. It is expressed in bone marrow in promyelocytes and hematopoietic stem cells, suggesting a role in neutrophil differentiation. A variation in N4BP2L2 was associated with Hb F response to hydroxyurea in sickle cell disease cohorts.

Synonyms: CG005 , PFAAP5


Sequence Viewer

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Publications / Origin

  1. Salipante SJ, Rojas ME, Korkmaz B, Duan Z, Wechsler J, Benson KF, Person RE, Grimes HL, Horwitz MS, Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase., Mol. Cell. Biol., 29(16), 4394-405, 2009 PubMed
  2. Sheehan VA, Crosby JR, Sabo A, Mortier NA, Howard TA, Muzny DM, Dugan-Perez S, Aygun B, Nottage KA, Boerwinkle E, Gibbs RA, Ware RE, Flanagan JM, Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia., PLoS ONE , 9(10), e110740, 2014 PubMed
Created on 2019-09-23 16:18:58, Last reviewed on (Show full history)

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