Gene Gene information from NCBI Gene database.
Entrez ID 7101
Gene name Nuclear receptor subfamily 2 group E member 1
Gene symbol NR2E1
Synonyms (NCBI Gene)
TLLTLXXTLL
Chromosome 6
Chromosome location 6q21
Summary 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 differe
miRNA miRNA information provided by mirtarbase database.
196
miRTarBase ID miRNA Experiments Reference
MIRT004618 hsa-let-7b-5p immunoblotLuciferase reporter assayNorthern blotWestern blot 20133835
MIRT004982 hsa-miR-9-5p GFP reporter assayImmunocytochemistryImmunoprecipitaionLuciferase reporter assayNorthern blotqRT-PCRWestern blot 19330006
MIRT004982 hsa-miR-9-5p GFP reporter assayImmunocytochemistryImmunoprecipitaionLuciferase reporter assayNorthern blotqRT-PCRWestern blot 19330006
MIRT004982 hsa-miR-9-5p GFP reporter assayImmunocytochemistryImmunoprecipitaionLuciferase reporter assayNorthern blotqRT-PCRWestern blot 19330006
MIRT004982 hsa-miR-9-5p GFP reporter assayImmunocytochemistryImmunoprecipitaionLuciferase reporter assayNorthern blotqRT-PCRWestern blot 19330006
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603849 7973 ENSG00000112333
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y466
Protein name Nuclear receptor subfamily 2 group E member 1 (Nuclear receptor TLX) (Protein tailless homolog) (Tll) (hTll)
Protein function Orphan receptor that binds DNA as a monomer to hormone response elements (HRE) containing an extended core motif half-site sequence 5'-AAGGTCA-3' in which the 5' flanking nucleotides participate in determining receptor specificity (By similarity
PDB 4XAJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4 14 85 Zinc finger, C4 type (two domains) Domain
PF00104 Hormone_recep 172 367 Ligand-binding domain of nuclear hormone receptor Domain
Tissue specificity TISSUE SPECIFICITY: Brain specific. Present in all brain sections tested, highest levels in the caudate nucleus and hippocampus, weakest levels in the thalamus. {ECO:0000269|PubMed:9628820}.
Sequence
Sequence length 385
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nuclear Receptor transcription pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MICROCEPHALY GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NR2E1-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aniridia Aniridia BEFREE 23213277
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia Pubtator 23213277 Associate
★☆☆☆☆
Found in Text Mining only
Anterior segment mesenchymal dysgenesis Anterior segment mesenchymal dysgenesis Pubtator 23213277 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 30679601 Associate
★☆☆☆☆
Found in Text Mining only
Behavior Disorders Behavior Disorders BEFREE 16000615, 18205168
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 18205168
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 18205168, 20497236
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar I disorder Bipolar Disorder PSYGENET_DG 20497236
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Neoplasms Brain Neoplasms BEFREE 20360385, 20814749, 23028043, 25557355, 26554934, 28527574, 30441799
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 24936658, 30441799 Associate
★☆☆☆☆
Found in Text Mining only