N4BP2 - NEDD4 binding protein 2 Gene

Homo sapiens

Also known as B3BP

Gene ID: 55728 | Gene type: protein coding

About N4BP2

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:40,056,850-40,190,470 (from NCBI)

This gene has 4 transcripts (splice variants), 135 orthologues, 2 paralogues and is associated with 73 phenotypes. Ubiquitous expression in thyroid (RPKM 3.3), lymph node (RPKM 2.4) and 25 other tissues.

Summary

This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

N4BP2 Products(2)

mRNA	Protein	Name
NM_001318359.2	NP_001305288.1	NEDD4-binding protein 2 isoform 2
NM_018177.6	NP_060647.2	NEDD4-binding protein 2 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	12730195	GOA
enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity	IDA IDA: Inferred from direct assay	12730195	GOA
enables DNA endonuclease activity	IDA IDA: Inferred from direct assay	12730195	GOA
enables endonuclease activity	IDA IDA: Inferred from direct assay	12730195	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12730195	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

N4BP2 Protein Structure

AAA_33

DUF1771

Smr

0
300
600
900
1200
1500
1770 a.a.

Protein Preferred Names

Protein Names

NEDD4-binding protein 2

BCL-3-binding protein

Related Diseases

Diseases

Alias

Orofacial Cleft 5

OFC5	Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 5
Nonsyndromic Cleft Lip With Or Without Cleft Palate 5	Non-Syndromic Orofacial Cleft 5
Non-Syndromic Cleft Lip/Palate 5	Non-Syndromic Cleft Lip With Or Without Cleft Palate 5
Orofacial Cleft, Type 5

Orofacial Cleft 10

OFC10	Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 10
Nonsyndromic Cleft Lip With Or Without Cleft Palate 10	Non-Syndromic Orofacial Cleft 10
Non-Syndromic Cleft Lip/Palate 10	Non-Syndromic Cleft Lip With Or Without Cleft Palate 10
Orofacial Cleft, Type 10

Orofacial Cleft 11

OFC11	Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 11
Nonsyndromic Cleft Lip With Or Without Cleft Palate 11	Non-Syndromic Orofacial Cleft 11
Chcl	Cleft Lip Congenital Healed
Congenital Healed Cleft Lip	Non-Syndromic Cleft Lip/Palate 11
Non-Syndromic Cleft Lip With Or Without Cleft Palate 11	Orofacial Cleft, Type 11
Cleft Lip, Congenital Healed

Orofacial Cleft 15

OFC15

Non-Syndromic Orofacial Cleft 15

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08980	N4BP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS08981	N4BP2L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS08982	N4BP2L2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	N4BP2	VGNC	VGNC:53766
Mus musculus	N4BP2	MGD	MGI:2684414
Canis familiaris	N4BP2	VGNC	VGNC:43597
Felis catus	N4BP2	VGNC	VGNC:63702
Macaca mulatta	N4BP2	VGNC	VGNC:75052
Rattus norvegicus	N4BP2	RGD	RGD:1565738

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