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

Gene ID: 29982, updated on 18-Dec-2022

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
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Genomic context

See NRBF2 in Genome Data Viewer
Location:
10q21.3
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (63133328..63155024)
110 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_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378328 Neighboring gene RNA, U6 small nuclear 543, pseudogene Neighboring gene jumonji domain containing 1C Neighboring gene TatD DNase domain containing 1 pseudogene 1 Neighboring gene uncharacterized LOC124900287

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30395, DKFZp564C1664

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
PubMed 
involved_in autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of lipid kinase activity IEA
Inferred from Electronic Annotation
more info
 
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
 

General protein information

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)

  1. NM_001282405.2NP_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:36274
    DUF1875; Domain of unknown function (DUF1875)
  2. NM_030759.5NP_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
    Q96F24, Q9H2I2
    Related
    ENSP00000277746.6, ENST00000277746.11
    Conserved Domains (2) summary
    pfam08961
    Location:89284
    NRBF2; Nuclear receptor-binding factor 2, autophagy regulator
    pfam17169
    Location:486
    NRBF2_MIT; MIT domain of nuclear receptor-binding factor 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    63133328..63155024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425132.1XP_047281088.1  nuclear receptor-binding factor 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    63991431..64013145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)