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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7181
Gene name Gene Name - the full gene name approved by the HGNC.	Nuclear receptor subfamily 2 group C member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NR2C1
Synonyms (NCBI Gene) Gene synonyms aliases	TR2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q22
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a nuclear hormone receptor characterized by a highly conserved DNA binding domain (DBD), a variable hinge region, and a carboxy-terminal ligand binding domain (LBD) that is typical for all members of the steroid/thyroid hormone receptor

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1592778920	C>G	Likely-pathogenic	Splice donor variant

Show/Hide all(180)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440096	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440096	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT1192184	hsa-miR-106a	CLIP-seq
MIRT1192185	hsa-miR-106b	CLIP-seq
MIRT1192186	hsa-miR-1200	CLIP-seq
MIRT1192187	hsa-miR-1245	CLIP-seq
MIRT1192188	hsa-miR-1262	CLIP-seq
MIRT1192189	hsa-miR-1285	CLIP-seq
MIRT1192190	hsa-miR-142-5p	CLIP-seq
MIRT1192191	hsa-miR-17	CLIP-seq
MIRT1192192	hsa-miR-1827	CLIP-seq
MIRT1192193	hsa-miR-190	CLIP-seq
MIRT1192194	hsa-miR-190b	CLIP-seq
MIRT1192195	hsa-miR-20a	CLIP-seq
MIRT1192196	hsa-miR-20b	CLIP-seq
MIRT1192197	hsa-miR-302a	CLIP-seq
MIRT1192198	hsa-miR-302b	CLIP-seq
MIRT1192199	hsa-miR-302c	CLIP-seq
MIRT1192200	hsa-miR-302d	CLIP-seq
MIRT1192201	hsa-miR-302e	CLIP-seq
MIRT1192202	hsa-miR-3122	CLIP-seq
MIRT1192203	hsa-miR-3129-3p	CLIP-seq
MIRT1192204	hsa-miR-3144-3p	CLIP-seq
MIRT1192205	hsa-miR-3156-5p	CLIP-seq
MIRT1192206	hsa-miR-3163	CLIP-seq
MIRT1192207	hsa-miR-3187-5p	CLIP-seq
MIRT1192208	hsa-miR-3190	CLIP-seq
MIRT1192209	hsa-miR-340	CLIP-seq
MIRT1192210	hsa-miR-3591-5p	CLIP-seq
MIRT1192211	hsa-miR-3606	CLIP-seq
MIRT1192212	hsa-miR-3609	CLIP-seq
MIRT1192213	hsa-miR-3617	CLIP-seq
MIRT1192214	hsa-miR-3663-5p	CLIP-seq
MIRT1192215	hsa-miR-3670	CLIP-seq
MIRT1192216	hsa-miR-3672	CLIP-seq
MIRT1192217	hsa-miR-3689a-3p	CLIP-seq
MIRT1192218	hsa-miR-3689c	CLIP-seq
MIRT1192219	hsa-miR-372	CLIP-seq
MIRT1192220	hsa-miR-373	CLIP-seq
MIRT1192221	hsa-miR-3913-5p	CLIP-seq
MIRT1192222	hsa-miR-3929	CLIP-seq
MIRT1192223	hsa-miR-410	CLIP-seq
MIRT1192224	hsa-miR-4318	CLIP-seq
MIRT1192225	hsa-miR-4324	CLIP-seq
MIRT1192226	hsa-miR-4419b	CLIP-seq
MIRT1192227	hsa-miR-4421	CLIP-seq
MIRT1192228	hsa-miR-4478	CLIP-seq
MIRT1192229	hsa-miR-4528	CLIP-seq
MIRT1192230	hsa-miR-4649-3p	CLIP-seq
MIRT1192231	hsa-miR-4693-5p	CLIP-seq
MIRT1192232	hsa-miR-4701-3p	CLIP-seq
MIRT1192233	hsa-miR-4709-5p	CLIP-seq
MIRT1192234	hsa-miR-4712-5p	CLIP-seq
MIRT1192235	hsa-miR-4728-5p	CLIP-seq
MIRT1192236	hsa-miR-4729	CLIP-seq
MIRT1192237	hsa-miR-4763-5p	CLIP-seq
MIRT1192238	hsa-miR-4775	CLIP-seq
MIRT1192239	hsa-miR-4786-5p	CLIP-seq
MIRT1192240	hsa-miR-4790-3p	CLIP-seq
MIRT1192241	hsa-miR-4796-3p	CLIP-seq
MIRT1192242	hsa-miR-485-5p	CLIP-seq
MIRT1192243	hsa-miR-519d	CLIP-seq
MIRT1192244	hsa-miR-520a-3p	CLIP-seq
MIRT1192245	hsa-miR-520b	CLIP-seq
MIRT1192246	hsa-miR-520c-3p	CLIP-seq
MIRT1192247	hsa-miR-520d-3p	CLIP-seq
MIRT1192248	hsa-miR-520e	CLIP-seq
MIRT1192249	hsa-miR-520f	CLIP-seq
MIRT1192250	hsa-miR-544	CLIP-seq
MIRT1192251	hsa-miR-544b	CLIP-seq
MIRT1192252	hsa-miR-548ah	CLIP-seq
MIRT1192253	hsa-miR-548c-3p	CLIP-seq
MIRT1192254	hsa-miR-582-5p	CLIP-seq
MIRT1192255	hsa-miR-612	CLIP-seq
MIRT1192256	hsa-miR-616	CLIP-seq
MIRT1192257	hsa-miR-636	CLIP-seq
MIRT1192258	hsa-miR-641	CLIP-seq
MIRT1192259	hsa-miR-661	CLIP-seq
MIRT1192260	hsa-miR-7	CLIP-seq
MIRT1192261	hsa-miR-769-5p	CLIP-seq
MIRT1192262	hsa-miR-770-5p	CLIP-seq
MIRT1192263	hsa-miR-892a	CLIP-seq
MIRT1192264	hsa-miR-921	CLIP-seq
MIRT1192265	hsa-miR-93	CLIP-seq
MIRT1192266	hsa-miR-940	CLIP-seq
MIRT1192192	hsa-miR-1827	CLIP-seq
MIRT2055691	hsa-miR-371b-5p	CLIP-seq
MIRT1192234	hsa-miR-4712-5p	CLIP-seq
MIRT1192262	hsa-miR-770-5p	CLIP-seq
MIRT1192184	hsa-miR-106a	CLIP-seq
MIRT1192185	hsa-miR-106b	CLIP-seq
MIRT2284562	hsa-miR-1225-3p	CLIP-seq
MIRT2284563	hsa-miR-1233	CLIP-seq
MIRT1192189	hsa-miR-1285	CLIP-seq
MIRT1192190	hsa-miR-142-5p	CLIP-seq
MIRT2284564	hsa-miR-150	CLIP-seq
MIRT1192191	hsa-miR-17	CLIP-seq
MIRT1192192	hsa-miR-1827	CLIP-seq
MIRT2284565	hsa-miR-197	CLIP-seq
MIRT1192195	hsa-miR-20a	CLIP-seq
MIRT1192196	hsa-miR-20b	CLIP-seq
MIRT1192197	hsa-miR-302a	CLIP-seq
MIRT1192198	hsa-miR-302b	CLIP-seq
MIRT1192199	hsa-miR-302c	CLIP-seq
MIRT1192200	hsa-miR-302d	CLIP-seq
MIRT1192201	hsa-miR-302e	CLIP-seq
MIRT1192203	hsa-miR-3129-3p	CLIP-seq
MIRT2284566	hsa-miR-3180-5p	CLIP-seq
MIRT1192207	hsa-miR-3187-5p	CLIP-seq
MIRT1192209	hsa-miR-340	CLIP-seq
MIRT1192212	hsa-miR-3609	CLIP-seq
MIRT2284567	hsa-miR-3614-5p	CLIP-seq
MIRT1192216	hsa-miR-3672	CLIP-seq
MIRT2055691	hsa-miR-371b-5p	CLIP-seq
MIRT1192219	hsa-miR-372	CLIP-seq
MIRT1192220	hsa-miR-373	CLIP-seq
MIRT1192223	hsa-miR-410	CLIP-seq
MIRT2284568	hsa-miR-412	CLIP-seq
MIRT2284569	hsa-miR-4282	CLIP-seq
MIRT2284570	hsa-miR-4433	CLIP-seq
MIRT1192233	hsa-miR-4709-5p	CLIP-seq
MIRT1192234	hsa-miR-4712-5p	CLIP-seq
MIRT2284571	hsa-miR-4731-5p	CLIP-seq
MIRT1192237	hsa-miR-4763-5p	CLIP-seq
MIRT1192239	hsa-miR-4786-5p	CLIP-seq
MIRT1192241	hsa-miR-4796-3p	CLIP-seq
MIRT2284572	hsa-miR-512-3p	CLIP-seq
MIRT2284573	hsa-miR-513a-3p	CLIP-seq
MIRT1192243	hsa-miR-519d	CLIP-seq
MIRT1192244	hsa-miR-520a-3p	CLIP-seq
MIRT2284574	hsa-miR-520a-5p	CLIP-seq
MIRT1192245	hsa-miR-520b	CLIP-seq
MIRT1192246	hsa-miR-520c-3p	CLIP-seq
MIRT1192247	hsa-miR-520d-3p	CLIP-seq
MIRT1192248	hsa-miR-520e	CLIP-seq
MIRT1192249	hsa-miR-520f	CLIP-seq
MIRT2284575	hsa-miR-520g	CLIP-seq
MIRT2284576	hsa-miR-520h	CLIP-seq
MIRT2284577	hsa-miR-525-5p	CLIP-seq
MIRT1192250	hsa-miR-544	CLIP-seq
MIRT1192252	hsa-miR-548ah	CLIP-seq
MIRT1192253	hsa-miR-548c-3p	CLIP-seq
MIRT1192255	hsa-miR-612	CLIP-seq
MIRT1192257	hsa-miR-636	CLIP-seq
MIRT1192259	hsa-miR-661	CLIP-seq
MIRT2284578	hsa-miR-665	CLIP-seq
MIRT1192261	hsa-miR-769-5p	CLIP-seq
MIRT1192262	hsa-miR-770-5p	CLIP-seq
MIRT1192265	hsa-miR-93	CLIP-seq
MIRT1192266	hsa-miR-940	CLIP-seq
MIRT1192214	hsa-miR-3663-5p	CLIP-seq
MIRT2391711	hsa-miR-431	CLIP-seq
MIRT1192192	hsa-miR-1827	CLIP-seq
MIRT1192202	hsa-miR-3122	CLIP-seq
MIRT1192217	hsa-miR-3689a-3p	CLIP-seq
MIRT1192218	hsa-miR-3689c	CLIP-seq
MIRT1192221	hsa-miR-3913-5p	CLIP-seq
MIRT1192222	hsa-miR-3929	CLIP-seq
MIRT1192226	hsa-miR-4419b	CLIP-seq
MIRT1192228	hsa-miR-4478	CLIP-seq
MIRT1192230	hsa-miR-4649-3p	CLIP-seq
MIRT1192234	hsa-miR-4712-5p	CLIP-seq
MIRT1192235	hsa-miR-4728-5p	CLIP-seq
MIRT1192242	hsa-miR-485-5p	CLIP-seq
MIRT1192262	hsa-miR-770-5p	CLIP-seq
MIRT1192266	hsa-miR-940	CLIP-seq
MIRT1192192	hsa-miR-1827	CLIP-seq
MIRT1192202	hsa-miR-3122	CLIP-seq
MIRT1192217	hsa-miR-3689a-3p	CLIP-seq
MIRT1192218	hsa-miR-3689c	CLIP-seq
MIRT1192221	hsa-miR-3913-5p	CLIP-seq
MIRT1192222	hsa-miR-3929	CLIP-seq
MIRT1192226	hsa-miR-4419b	CLIP-seq
MIRT1192228	hsa-miR-4478	CLIP-seq
MIRT1192230	hsa-miR-4649-3p	CLIP-seq
MIRT1192234	hsa-miR-4712-5p	CLIP-seq
MIRT1192235	hsa-miR-4728-5p	CLIP-seq
MIRT1192242	hsa-miR-485-5p	CLIP-seq
MIRT1192262	hsa-miR-770-5p	CLIP-seq
MIRT1192266	hsa-miR-940	CLIP-seq

Show/Hide all(31)

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	IPI	17974920
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	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	3421977
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003707	Function	Nuclear steroid receptor activity	TAS	2597158
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	12093804, 17974920, 32296183
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:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016605	Component	PML body	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030518	Process	Nuclear receptor-mediated steroid hormone signaling pathway	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0038023	Function	Signaling receptor activity	TAS	3421977
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042826	Function	Histone deacetylase binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048386	Process	Positive regulation of retinoic acid receptor signaling pathway	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601529	7971	ENSG00000120798

Protein

UniProt ID

P13056

Protein name

Nuclear receptor subfamily 2 group C member 1 (Orphan nuclear receptor TR2) (Testicular receptor 2)

Protein function

Orphan nuclear receptor. Binds the IR7 element in the promoter of its own gene in an autoregulatory negative feedback mechanism. Primarily repressor of a broad range of genes. Binds to hormone response elements (HREs) consisting of two 5'-AGGTCA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	111 → 180	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	378 → 574	Ligand-binding domain of nuclear hormone receptor	Domain

Sequence

MATIEEIAHQIIEQQMGEIVTEQQTGQKIQIVTALDHNTQGKQFILTNHDGSTPSKVILA
RQDSTPGKVFLTTPDAAGVNQLFFTTPDLSAQHLQLLTDNSPDQGPNKVFDLCVVCGDKA
SGRHYGAVTCEGCKGFFKRSIRKNLVYSCRGSKDCIINKHHRNRCQYCRLQRCIAFGMKQ
DSVQCERKPIEVSREKSSNCAASTEKIYIRKDLRSPLTATPTFVTDSESTRSTGLLDSGM
FMNIHPSGVKTESAVLMTSDKAESCQGDLSTLANVVTSLANLGKTKDLSQNSNEMSMIES
LSNDDTSLCEFQEMQTNGDVSRAFDTLAKALNPGESTACQSSVAGMEGSVHLITGDSSIN
YTEKEGPLLSDSHVAFRLTMPSPMPEYLNVHYIGESASRLLFLSMHWALSIPSFQALGQE
NSISLVKAYWNELFTLGLAQCWQVMNVATILATFVNCLHNSLQQDKMSTERRKLLMEHIF
KLQEFCNSMVKLCIDGYEYAYLKAIVLFSPDHPSLENMEQIEKFQEKAYVEFQDYITKTY
PDDTYRLSRLLLRLPALRLMNATITEELFFKGLIGNIRIDSVIPHILKMEPADYNSQIIG
HSI

Sequence length

603

Interactions

View interactions

	Reactome
			Nuclear Receptor transcription pathway

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital finger flexion contractures	Flexion contracture	rs1592778920	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
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.
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Frontal Fibrosing Alopecia	Frontal fibrosing alopecia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	33941198
Esophageal Neoplasms	Associate	21196216
Esophageal Squamous Cell Carcinoma	Associate	21196216
Leukemia Myeloid Acute	Associate	22183068

NR2C1 (nuclear receptor subfamily 2 group C member 1)