NR2E1
Nuclear receptor subfamily 2 group E member 1
Also known as: NR2E1_HUMAN, TLL, TLX, XTLL
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y466
- Gene
- NR2E1
- Ensembl
- ENSG00000112333
- Chromosome
- 6
- Canonical length
- 385 aa
- Protein class
- Nuclear receptors, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nuclear bodies
OverviewNCBI Gene
The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Canonical amino-acid sequenceUniProt
385 residues, UniProt reviewed canonical sequence.
>Q9Y466|NR2E1
1 MSKPAGSTSR ILDIPCKVCG DRSSGKHYGV YACDGCSGFF KRSIRRNRTY VCKSGNQGGC
61 PVDKTHRNQC RACRLKKCLE VNMNKDAVQH ERGPRTSTIR KQVALYFRGH KEENGAAAHF
121 PSAALPAPAF FTAVTQLEPH GLELAAVSTT PERQTLVSLA QPTPKYPHEV NGTPMYLYEV
181 ATESVCESAA RLLFMSIKWA KSVPAFSTLS LQDQLMLLED AWRELFVLGI AQWAIPVDAN
241 TLLAVSGMNG DNTDSQKLNK IISEIQALQE VVARFRQLRL DATEFACLKC IVTFKAVPTH
301 SGSELRSFRN AAAIAALQDE AQLTLNSYIH TRYPTQPCRF GKLLLLLPAL RSISPSTIEE
361 VFFKKTIGNV PITRLLSDMY KSSDILocalizationUniProt · AlphaFold · HPA
Whether an antibody against NR2E1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 28 nTPM
Expression across tissuesHPA
Tissue
- retina: 28 nTPM
- basal ganglia: 24 nTPM
- amygdala: 22 nTPM
- cerebral cortex: 21 nTPM
- hippocampal formation: 12 nTPM
- choroid plexus: 7.8 nTPM
Single-cell type
- müller glia: 91 nCPM
- astrocytes: 20 nCPM
- oocytes: 14 nCPM
- retinal pigment epithelial cells: 13 nCPM
- choroid plexus epithelial cells: 10 nCPM
- ependymal cells: 4.8 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 27 nTPM
- cerebral cortex: 24 nTPM
- amygdala: 21 nTPM
- thalamus: 21 nTPM
- hippocampal formation: 18 nTPM
- hypothalamus: 16 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.16
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.6
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- aggressive behavior
- amygdala development
- angiogenesis
- anterior commissure morphogenesis
- apoptotic process
- astrocyte cell migration
- astrocyte differentiation
- behavioral fear response
- cell differentiation
- cell fate commitment
- cerebral cortex neuron differentiation
- dentate gyrus development
- extracellular matrix organization
- layer formation in cerebral cortex
- long-term synaptic potentiation
- negative regulation of apoptotic process
- negative regulation of astrocyte differentiation
- negative regulation of neural precursor cell proliferation
- negative regulation of neuron differentiation
- negative regulation of transcription by RNA polymerase II
- nervous system development
- neuroblast proliferation
- olfactory bulb development
- positive regulation of angiogenesis
- positive regulation of cell cycle
- positive regulation of neuroblast proliferation
- positive regulation of stem cell proliferation
- regulation of cell migration involved in sprouting angiogenesis
- regulation of dendrite morphogenesis
- regulation of timing of neuron differentiation
- retina development in camera-type eye
- social behavior
- somatic stem cell population maintenance
- visual perception
Molecular functions
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- DNA-binding transcription repressor activity, RNA polymerase II-specific
- histone deacetylase binding
- nuclear receptor activity
- nuclear steroid receptor activity
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Nuclear hormone receptor, ligand-binding domain
- Zinc finger, nuclear hormone receptor-type
- Nuclear hormone receptor
- Zinc finger, NHR/GATA-type
- Nuclear hormone receptor-like domain superfamily
- Nuclear hormone receptor family NR2 subfamily
- Ligand-binding domain of nuclear hormone receptor
- Double treble clef zinc finger, C4 type
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NR2E1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NR2E1 as an antibody target. Whether an autoantibody or antibody against NR2E1 could matter depends on whether native NR2E1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NR2E1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NR2E1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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