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

Gene ID: 29982, updated on 2-Oct-2018

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; Vega:OTTHUMG00000018309
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
Expression
Ubiquitous expression in appendix (RPKM 10.9), placenta (RPKM 10.7) and 25 other tissues See more
Orthologs

Genomic context

See NRBF2 in Genome Data Viewer
Location:
10q21.3
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (63133247..63155031)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (64893007..64914786)

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 microRNA 1296

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Autophagy - animal, organism-specific biosystem (from KEGG)
    Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Autophagy - animal, conserved biosystem (from KEGG)
    Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Nuclear Receptor transcription pathway, organism-specific biosystem (from REACTOME)
    Nuclear Receptor transcription pathway, organism-specific biosystemA classic example of bifunctional transcription factors is the family of Nuclear Receptor (NR) proteins. These are DNA-binding transcription factors that bind certain hormones, vitamins, and other s...

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of lipid kinase activity IEA
Inferred from Electronic Annotation
more info
 
response to endoplasmic reticulum stress IEA
Inferred from Electronic Annotation
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
autophagosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
colocalizes_with phosphatidylinositol 3-kinase complex, class III IDA
Inferred from Direct Assay
more info
PubMed 

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)

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_001282405.1NP_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, AU310836, BC001345, DB522359
    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_030759.4NP_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, DB522359
    Consensus CDS
    CCDS7268.1
    UniProtKB/Swiss-Prot
    Q96F24
    Related
    ENSP00000277746.6, OTTHUMP00000019676, ENST00000277746.10, OTTHUMT00000048247
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    63133247..63155031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717810.4XP_006717873.1  nuclear receptor-binding factor 2 isoform X1

    See identical proteins and their annotated locations for XP_006717873.1

    Conserved Domains (1) summary
    pfam08961
    Location:2240
    DUF1875; Domain of unknown function (DUF1875)
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