Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7101
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear receptor subfamily 2 group E member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NR2E1
Synonyms (NCBI Gene) Gene synonyms aliases
TLL, TLX, XTLL
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez 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 differe
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004618 hsa-let-7b-5p immunoblot, Luciferase reporter assay, Northern blot, Western blot 20133835
MIRT004982 hsa-miR-9-5p GFP reporter assay, Immunocytochemistry, Immunoprecipitaion, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 19330006
MIRT004982 hsa-miR-9-5p GFP reporter assay, Immunocytochemistry, Immunoprecipitaion, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 19330006
MIRT004982 hsa-miR-9-5p GFP reporter assay, Immunocytochemistry, Immunoprecipitaion, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 19330006
MIRT004982 hsa-miR-9-5p GFP reporter assay, Immunocytochemistry, Immunoprecipitaion, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 19330006
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603849 7973 ENSG00000112333
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Microcephaly microcephaly N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 22143938
Aniridia Associate 23213277
Anterior segment mesenchymal dysgenesis Associate 23213277
Ataxia Telangiectasia Associate 30679601
Brain Neoplasms Associate 24936658, 30441799
Carcinogenesis Associate 32721119
Carcinoma Squamous Cell Associate 22143938
Eye Abnormalities Associate 23213277
Eye Diseases Associate 23213277
Krause Kivlin syndrome Associate 23213277