NRBF2 nuclear receptor binding factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: NRBF2provided by HGNC
Official Full Name: nuclear receptor binding factor 2provided by HGNC
Primary source: HGNC:HGNC:19692
See related: Ensembl:ENSG00000148572 MIM:616477; AllianceGenome:HGNC:19692
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: COPR; COPR1; COPR2; NRBF-2
Summary: Involved in autophagy. Located in cytoplasm. Colocalizes with phosphatidylinositol 3-kinase complex, class III. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in appendix (RPKM 10.9), placenta (RPKM 10.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q21.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (63133328..63155024)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (63991431..64013145)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (64893088..64914784)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NRBF2-mediated autophagy contributes to metabolite replenishment and radioresistance in glioblastoma.
Title: NRBF2-mediated autophagy contributes to metabolite replenishment and radioresistance in glioblastoma.
PI3KC3 complex subunit NRBF2 is required for apoptotic cell clearance to restrict intestinal inflammation.
Title: PI3KC3 complex subunit NRBF2 is required for apoptotic cell clearance to restrict intestinal inflammation.
implicates NRBF2 deficiency as a risk factor for cognitive impairment associated with AD, but also support the idea of NRBF2 as a potential therapeutic target for Alzheimer's Disease
Title: Autophagy protein NRBF2 has reduced expression in Alzheimer's brains and modulates memory and amyloid-beta homeostasis in mice.
NRBF2 plays an important role in regulating degradation of APP-C-terminal fragments through modulating autophagy.
Title: NRBF2 is involved in the autophagic degradation process of APP-CTFs in Alzheimer disease models.
Here we show that a putative fifth subunit, nuclear receptor binding factor 2 (NRBF2), is a tightly bound component of the class III phosphatidylinositol 3-kinase complex I that profoundly affects its activity and architecture. NRBF2 is a homodimer and drives the dimerization of the larger PI3KC3-C1 complex, with implications for the higher-order organization of the preautophagosomal structure.
Title: Dynamics and architecture of the NRBF2-containing phosphatidylinositol 3-kinase complex I of autophagy.
This study reveals NRBF2 as a critical molecular switch of PtdIns3K and autophagy activation, and its on/off state is precisely controlled by MTORC1 through phosphorylation.
Title: MTORC1-mediated NRBF2 phosphorylation functions as a switch for the class III PtdIns3K and autophagy.
Atg38 and its human ortholog NRBF2, accessory components of complex I consisting of Vps15-Vps34-Vps30/Atg6-Atg14 (yeast) and PIK3R4/VPS15-PIK3C3/VPS34-BECN1/Beclin 1-ATG14 (human), were characterized.
Title: Characterization of Atg38 and NRBF2, a fifth subunit of the autophagic Vps34/PIK3C3 complex.
Polymorphisms in a putative enhancer at the 10q21.2 Breast Cancer Risk Locus regulate NRBF2 expression, implicating this gene in the etiology of breast cancer.
Title: Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression.
Nrbf2 may interact with the Atg14L-containing Beclin 1-Vps34 protein complex to modulate protein-protein interactions within the complex.
Title: Nrbf2 protein suppresses autophagy by modulating Atg14L protein-containing Beclin 1-Vps34 complex architecture and reducing intracellular phosphatidylinositol-3 phosphate levels.
NRBF2 regulates macroautophagy as a component of Vps34 Complex I.
Title: NRBF2 regulates macroautophagy as a component of Vps34 Complex I.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91167 (e-PCR)
- UniSTS:87856

D3S2919E (e-PCR)
- UniSTS:150903

RH64711 (e-PCR)
- UniSTS:87953

D10S2278 (e-PCR)
- UniSTS:60080

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of phosphatidylinositol 3-kinase complex, class III	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: nuclear receptor-binding factor 2

Names: comodulator of PPAR and RXR 1; comodulator of PPAR and RXR 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001282405.2 → NP_001269334.1 nuclear receptor-binding factor 2 isoform 2

See identical proteins and their annotated locations for NP_001269334.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region which results in the use of an alternate AUG compared to variant 1. It encodes isoform 2 which is shorter and has a distinct N-terminus compared to isoform 1.

Source sequence(s)

AK301656, BC001345

Consensus CDS

CCDS60537.1

UniProtKB/Swiss-Prot

Q96F24

Related

ENSP00000397502.2, ENST00000435510.6

Conserved Domains (1) summary

pfam08961
Location:36 → 274

DUF1875; Domain of unknown function (DUF1875)
NM_030759.5 → NP_110386.2 nuclear receptor-binding factor 2 isoform 1

See identical proteins and their annotated locations for NP_110386.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AU310836, BC001345, BC011707

Consensus CDS

CCDS7268.1

UniProtKB/Swiss-Prot

A6PW36, B4DWS0, Q86UR2, Q96F24, Q96NP6, Q9H0S9, Q9H2I2

Related

ENSP00000277746.6, ENST00000277746.11

Conserved Domains (2) summary

pfam08961
Location:89 → 284

NRBF2; Nuclear receptor-binding factor 2, autophagy regulator

pfam17169
Location:4 → 86

NRBF2_MIT; MIT domain of nuclear receptor-binding factor 2