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	2649
Gene name	Nuclear receptor subfamily 6 group A member 1
Gene symbol	NR6A1
Synonyms (NCBI Gene)	CT150GCNFGCNF1NR61RTRhGCNFhRTR
Chromosome	9
Chromosome location	9q33.3
Summary	This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in viv

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Show/Hide all (138)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016117	hsa-miR-421	Sequencing	20371350
MIRT021417	hsa-miR-9-5p	Microarray	17612493
MIRT025188	hsa-miR-181a-5p	Sequencing	20371350
MIRT025188	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT542882	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT542881	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT542880	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT542879	hsa-miR-4262	PAR-CLIP	21572407
MIRT542878	hsa-miR-4753-5p	PAR-CLIP	21572407
MIRT542877	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT542876	hsa-miR-3664-5p	PAR-CLIP	21572407
MIRT542875	hsa-miR-15a-3p	PAR-CLIP	21572407
MIRT542874	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT542873	hsa-miR-4272	PAR-CLIP	21572407
MIRT542872	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT542871	hsa-miR-4493	PAR-CLIP	21572407
MIRT542870	hsa-miR-4440	PAR-CLIP	21572407
MIRT542869	hsa-miR-6126	PAR-CLIP	21572407
MIRT542868	hsa-miR-6864-5p	PAR-CLIP	21572407
MIRT471967	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT471966	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT471965	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT471963	hsa-miR-4458	PAR-CLIP	23592263
MIRT471964	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT471962	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT471961	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT471960	hsa-miR-4500	PAR-CLIP	23592263
MIRT471959	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT471958	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT471957	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT471956	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT471955	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT471954	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT471953	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT471952	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT471951	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT471950	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT471949	hsa-miR-503-5p	PAR-CLIP	23592263
MIRT471947	hsa-miR-646	PAR-CLIP	23592263
MIRT471948	hsa-miR-4257	PAR-CLIP	23592263
MIRT471946	hsa-miR-1184	PAR-CLIP	23592263
MIRT471945	hsa-miR-1205	PAR-CLIP	23592263
MIRT471944	hsa-miR-17-3p	PAR-CLIP	23592263
MIRT471943	hsa-miR-6508-3p	PAR-CLIP	23592263
MIRT471942	hsa-miR-346	PAR-CLIP	23592263
MIRT471941	hsa-miR-4524a-5p	PAR-CLIP	23592263
MIRT471940	hsa-miR-4524b-5p	PAR-CLIP	23592263
MIRT471939	hsa-miR-4288	PAR-CLIP	23592263
MIRT471938	hsa-miR-632	PAR-CLIP	23592263
MIRT440090	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT025188	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT542882	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT542881	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT542880	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT440090	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT471946	hsa-miR-1184	PAR-CLIP	26701625
MIRT471945	hsa-miR-1205	PAR-CLIP	26701625
MIRT542875	hsa-miR-15a-3p	PAR-CLIP	26701625
MIRT471944	hsa-miR-17-3p	PAR-CLIP	26701625
MIRT471942	hsa-miR-346	PAR-CLIP	26701625
MIRT471939	hsa-miR-4288	PAR-CLIP	26701625
MIRT471938	hsa-miR-632	PAR-CLIP	26701625
MIRT025188	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT542882	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT542881	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT542880	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT542879	hsa-miR-4262	PAR-CLIP	21572407
MIRT542878	hsa-miR-4753-5p	PAR-CLIP	21572407
MIRT542877	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT542876	hsa-miR-3664-5p	PAR-CLIP	21572407
MIRT542875	hsa-miR-15a-3p	PAR-CLIP	21572407
MIRT542874	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT542873	hsa-miR-4272	PAR-CLIP	21572407
MIRT542872	hsa-miR-605-3p	PAR-CLIP	21572407
MIRT542871	hsa-miR-4493	PAR-CLIP	21572407
MIRT542870	hsa-miR-4440	PAR-CLIP	21572407
MIRT542869	hsa-miR-6126	PAR-CLIP	21572407
MIRT542868	hsa-miR-6864-5p	PAR-CLIP	21572407
MIRT471967	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT471966	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT471965	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT471963	hsa-miR-4458	PAR-CLIP	23592263
MIRT471964	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT471962	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT471961	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT471960	hsa-miR-4500	PAR-CLIP	23592263
MIRT471959	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT471958	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT471957	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT471956	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT471955	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT471954	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT471953	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT471952	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT471951	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT471950	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT471949	hsa-miR-503-5p	PAR-CLIP	23592263
MIRT471947	hsa-miR-646	PAR-CLIP	23592263
MIRT471948	hsa-miR-4257	PAR-CLIP	23592263
MIRT471946	hsa-miR-1184	PAR-CLIP	23592263
MIRT471945	hsa-miR-1205	PAR-CLIP	23592263
MIRT471944	hsa-miR-17-3p	PAR-CLIP	23592263
MIRT471943	hsa-miR-6508-3p	PAR-CLIP	23592263
MIRT471942	hsa-miR-346	PAR-CLIP	23592263
MIRT471941	hsa-miR-4524a-5p	PAR-CLIP	23592263
MIRT471940	hsa-miR-4524b-5p	PAR-CLIP	23592263
MIRT471939	hsa-miR-4288	PAR-CLIP	23592263
MIRT471938	hsa-miR-632	PAR-CLIP	23592263
MIRT1193086	hsa-miR-181a	CLIP-seq
MIRT1193087	hsa-miR-181b	CLIP-seq
MIRT1193088	hsa-miR-181c	CLIP-seq
MIRT1193089	hsa-miR-181d	CLIP-seq
MIRT1193090	hsa-miR-23a	CLIP-seq
MIRT1193091	hsa-miR-23b	CLIP-seq
MIRT1193092	hsa-miR-23c	CLIP-seq
MIRT1193093	hsa-miR-30a	CLIP-seq
MIRT1193094	hsa-miR-30b	CLIP-seq
MIRT1193095	hsa-miR-30c	CLIP-seq
MIRT1193096	hsa-miR-30d	CLIP-seq
MIRT1193097	hsa-miR-30e	CLIP-seq
MIRT1193098	hsa-miR-33a	CLIP-seq
MIRT1193099	hsa-miR-33b	CLIP-seq
MIRT1193100	hsa-miR-3607-3p	CLIP-seq
MIRT1193101	hsa-miR-3686	CLIP-seq
MIRT1193102	hsa-miR-377	CLIP-seq
MIRT1193103	hsa-miR-412	CLIP-seq
MIRT1193104	hsa-miR-4422	CLIP-seq
MIRT1193105	hsa-miR-4711-5p	CLIP-seq
MIRT1193106	hsa-miR-4778-5p	CLIP-seq
MIRT1193107	hsa-miR-548g	CLIP-seq
MIRT1193108	hsa-miR-586	CLIP-seq
MIRT1193109	hsa-miR-604	CLIP-seq
MIRT1193110	hsa-miR-647	CLIP-seq
MIRT1193111	hsa-miR-653	CLIP-seq
MIRT1193086	hsa-miR-181a	CLIP-seq
MIRT1193087	hsa-miR-181b	CLIP-seq
MIRT1193088	hsa-miR-181c	CLIP-seq
MIRT1193089	hsa-miR-181d	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
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	ISA
GO:0001217	Function	DNA-binding transcription repressor activity	IDA	26769970
GO:0001217	Function	DNA-binding transcription repressor activity	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	26769970
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007276	Process	Gamete generation	IEA
GO:0007276	Process	Gamete generation	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0034056	Function	Estrogen response element binding	IBA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000741	Process	Positive regulation of mesenchymal stem cell differentiation	IDA	26769970
GO:2000741	Process	Positive regulation of mesenchymal stem cell differentiation	IEA

MIM	HGNC	e!Ensembl
602778	7985	ENSG00000148200

Q15406

Protein name

Nuclear receptor subfamily 6 group A member 1 (Germ cell nuclear factor) (GCNF) (hGCNF) (Retinoid receptor-related testis-specific receptor) (RTR) (hRTR)

Protein function

Orphan nuclear receptor that binds to a response element containing the sequence 5'-TCAAGGTCA-3' (PubMed:26769970). Acts as a regulator of embryonic stem cell pluripotency by mediating repression of POU5F1/OCT4: binds to the DR0 element within t

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	58 → 127	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	283 → 457	Ligand-binding domain of nuclear hormone receptor	Domain

Tissue specificity

TISSUE SPECIFICITY: Shows highest expression in the germ cells of the adult testis. {ECO:0000269|PubMed:8982251, ECO:0000269|PubMed:9134503, ECO:0000269|PubMed:9177477, ECO:0000269|PubMed:9493564, ECO:0000269|PubMed:9537518}.

Sequence

MERDEPPPSGGGGGGGSAGFLEPPAALPPPPRNGFCQDELAELDPGTISVSDDRAEQRTC
LICGDRATGLHYGIISCEGCKGFFKRSICNKRVYRCSRDKNCVMSRKQRNRCQYCRLLKC
LQMGMNRKAIREDGMPGGRNKSIGPVQISEEEIERIMSGQEFEEEANHWSNHGDSDHSSP
GNRASESNQPSPGSTLSSSRSVELNGFMAFREQYMGMSVPPHYQYIPHLFSYSGHSPLLP
QQARSLDPQSYSLIHQLLSAEDLEPLGTPMLIEDGYAVTQAELFALLCRLADELLFRQIA
WIKKLPFFCELSIKDYTCLLSSTWQELILLSSLTVYSKQIFGELADVTAKYSPSDEELHR
FSDEGMEVIERLIYLYHKFHQLKVSNEEYACMKAINFLNQDIRGLTSASQLEQLNKRYWY
ICQDFTEYKYTHQPNRFPDLMMCLPEIRYIAGKMVNVPLEQLPLLFKVVLHSCKTSVGKE

Sequence length

480

Interactions

View interactions

	Reactome
			POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation Nuclear Receptor transcription pathway

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)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arteriosclerosis	Arteriosclerosis	BEFREE	26546462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26546462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	40774958	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33941198, 37903971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	LHGDN	11969338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	38374020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	27334221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	28969082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28222251, 35148810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23532770, 28969082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28969082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23532770, 28969082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	16306258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	16306258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NR6A1 (nuclear receptor subfamily 6 group A member 1)