Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

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Show/Hide all (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
MIRT029877	hsa-miR-26b-5p	Microarray	19088304
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625927	hsa-miR-3922-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT625926	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625927	hsa-miR-3922-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT625926	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625927	hsa-miR-3922-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT625926	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608871	hsa-miR-3650	HITS-CLIP	24906430
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608870	hsa-miR-124-5p	HITS-CLIP	24906430
MIRT608868	hsa-miR-1206	HITS-CLIP	24906430
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	24906430
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	24906430
MIRT608864	hsa-miR-4455	HITS-CLIP	24906430
MIRT608865	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT535629	hsa-miR-6884-3p	PAR-CLIP	20371350
MIRT535628	hsa-miR-3121-5p	PAR-CLIP	20371350
MIRT535627	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT535626	hsa-miR-514a-3p	PAR-CLIP	20371350
MIRT535625	hsa-miR-514b-3p	PAR-CLIP	20371350
MIRT535623	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT535624	hsa-miR-2355-3p	PAR-CLIP	20371350
MIRT535635	hsa-miR-4662a-3p	PAR-CLIP	22012620
MIRT535634	hsa-miR-3925-5p	PAR-CLIP	22012620
MIRT535633	hsa-miR-3123	PAR-CLIP	22012620
MIRT535632	hsa-miR-3976	PAR-CLIP	22012620
MIRT535631	hsa-miR-6739-5p	PAR-CLIP	22012620
MIRT535630	hsa-miR-624-3p	PAR-CLIP	22012620
MIRT535629	hsa-miR-6884-3p	PAR-CLIP	22012620
MIRT535628	hsa-miR-3121-5p	PAR-CLIP	22012620
MIRT535627	hsa-miR-3912-5p	PAR-CLIP	22012620
MIRT535626	hsa-miR-514a-3p	PAR-CLIP	22012620
MIRT535625	hsa-miR-514b-3p	PAR-CLIP	22012620
MIRT535623	hsa-miR-4646-3p	PAR-CLIP	22012620
MIRT535624	hsa-miR-2355-3p	PAR-CLIP	22012620
MIRT608868	hsa-miR-1206	HITS-CLIP	27418678
MIRT608868	hsa-miR-1206	HITS-CLIP	27418678
MIRT608868	hsa-miR-1206	HITS-CLIP	27418678
MIRT608868	hsa-miR-1206	HITS-CLIP	27418678
MIRT608868	hsa-miR-1206	HITS-CLIP	27418678
MIRT608870	hsa-miR-124-5p	HITS-CLIP	27418678
MIRT608870	hsa-miR-124-5p	HITS-CLIP	27418678
MIRT608870	hsa-miR-124-5p	HITS-CLIP	27418678
MIRT608870	hsa-miR-124-5p	HITS-CLIP	27418678
MIRT608870	hsa-miR-124-5p	HITS-CLIP	27418678
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	27418678
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	27418678
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	27418678
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	27418678
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	27418678
MIRT625927	hsa-miR-3922-5p	HITS-CLIP	27418678
MIRT608864	hsa-miR-4455	HITS-CLIP	27418678
MIRT608864	hsa-miR-4455	HITS-CLIP	27418678
MIRT608864	hsa-miR-4455	HITS-CLIP	27418678
MIRT608864	hsa-miR-4455	HITS-CLIP	27418678
MIRT608864	hsa-miR-4455	HITS-CLIP	27418678
MIRT625926	hsa-miR-561-5p	HITS-CLIP	27418678
MIRT625926	hsa-miR-561-5p	HITS-CLIP	27418678
MIRT608865	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608865	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608865	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608865	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608865	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	27418678
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	27418678
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	27418678
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	27418678
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	27418678
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625927	hsa-miR-3922-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT625926	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625927	hsa-miR-3922-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT625926	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT625927	hsa-miR-3922-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT625926	hsa-miR-561-5p	HITS-CLIP	23824327
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT608869	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT608870	hsa-miR-124-5p	HITS-CLIP	23824327
MIRT608868	hsa-miR-1206	HITS-CLIP	23824327
MIRT608867	hsa-miR-6853-3p	HITS-CLIP	23824327
MIRT608866	hsa-miR-1298-5p	HITS-CLIP	23824327
MIRT608864	hsa-miR-4455	HITS-CLIP	23824327
MIRT608865	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT535629	hsa-miR-6884-3p	PAR-CLIP	20371350
MIRT535628	hsa-miR-3121-5p	PAR-CLIP	20371350
MIRT535627	hsa-miR-3912-5p	PAR-CLIP	20371350
MIRT535626	hsa-miR-514a-3p	PAR-CLIP	20371350
MIRT535625	hsa-miR-514b-3p	PAR-CLIP	20371350
MIRT535623	hsa-miR-4646-3p	PAR-CLIP	20371350
MIRT535624	hsa-miR-2355-3p	PAR-CLIP	20371350
MIRT535635	hsa-miR-4662a-3p	PAR-CLIP	22012620
MIRT535634	hsa-miR-3925-5p	PAR-CLIP	22012620
MIRT535633	hsa-miR-3123	PAR-CLIP	22012620
MIRT535632	hsa-miR-3976	PAR-CLIP	22012620
MIRT535631	hsa-miR-6739-5p	PAR-CLIP	22012620
MIRT535630	hsa-miR-624-3p	PAR-CLIP	22012620
MIRT535629	hsa-miR-6884-3p	PAR-CLIP	22012620
MIRT535628	hsa-miR-3121-5p	PAR-CLIP	22012620
MIRT535627	hsa-miR-3912-5p	PAR-CLIP	22012620
MIRT535626	hsa-miR-514a-3p	PAR-CLIP	22012620
MIRT535625	hsa-miR-514b-3p	PAR-CLIP	22012620
MIRT535623	hsa-miR-4646-3p	PAR-CLIP	22012620
MIRT535624	hsa-miR-2355-3p	PAR-CLIP	22012620
MIRT1192474	hsa-miR-1298	CLIP-seq
MIRT1192475	hsa-miR-1827	CLIP-seq
MIRT1192476	hsa-miR-183	CLIP-seq
MIRT1192477	hsa-miR-4717-3p	CLIP-seq
MIRT1192478	hsa-miR-564	CLIP-seq
MIRT1192474	hsa-miR-1298	CLIP-seq
MIRT2055928	hsa-miR-3140-5p	CLIP-seq
MIRT2055929	hsa-miR-4793-5p	CLIP-seq
MIRT2055930	hsa-miR-4796-3p	CLIP-seq
MIRT2055931	hsa-miR-548t	CLIP-seq
MIRT2284636	hsa-miR-4672	CLIP-seq
MIRT2284637	hsa-miR-4789-5p	CLIP-seq

Show/Hide all (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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001662	Process	Behavioral fear response	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002118	Process	Aggressive behavior	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003707	Function	Nuclear steroid receptor activity	TAS	9628820
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	28420882, 36321378
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	9628820
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007420	Process	Brain development	IEA
GO:0007601	Process	Visual perception	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021764	Process	Amygdala development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021872	Process	Forebrain generation of neurons	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021960	Process	Anterior commissure morphogenesis	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035176	Process	Social behavior	IEA
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043615	Process	Astrocyte cell migration	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045766	Process	Positive regulation of angiogenesis	IEA
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048712	Process	Negative regulation of astrocyte differentiation	IEA
GO:0048814	Process	Regulation of dendrite morphogenesis	IEA
GO:0051128	Process	Regulation of cellular component organization	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060164	Process	Regulation of timing of neuron differentiation	IEA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0090049	Process	Regulation of cell migration involved in sprouting angiogenesis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000178	Process	Negative regulation of neural precursor cell proliferation	IEA
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA

MIM	HGNC	e!Ensembl
603849	7973	ENSG00000112333

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

MSKPAGSTSRILDIPCKVCGDRSSGKHYGVYACDGCSGFFKRSIRRNRTYVCKSGNQGGC
PVDKTHRNQCRACRLKKCLEVNMNKDAVQHERGPRTSTIRKQVALYFRGHKEENGAAAHF
PSAALPAPAFFTAVTQLEPHGLELAAVSTTPERQTLVSLAQPTPKYPHEVNGTPMYLYEV
ATESVCESAARLLFMSIKWAKSVPAFSTLSLQDQLMLLEDAWRELFVLGIAQWAIPVDAN
TLLAVSGMNGDNTDSQKLNKIISEIQALQEVVARFRQLRLDATEFACLKCIVTFKAVPTH
SGSELRSFRNAAAIAALQDEAQLTLNSYIHTRYPTQPCRFGKLLLLLPALRSISPSTIEE
VFFKKTIGNVPITRLLSDMYKSSDI

Sequence length

385

Interactions

View interactions

	Reactome
			Nuclear Receptor transcription pathway

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
NR2E1-related disorder	Likely benign; Benign	rs774639070, rs777001073, rs2233493, rs148180359, rs769686347	RCV003941877 RCV003926952 RCV003956752 RCV003976995 RCV003963818

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Microphthalmos	Associate	23213277
Neoplasms	Associate	26059414, 28388012
Neurodegenerative Diseases	Associate	30679601
Peters anomaly	Associate	23213277

NR2E1 (nuclear receptor subfamily 2 group E member 1)