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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4929
Gene name	Nuclear receptor subfamily 4 group A member 2
Gene symbol	NR4A2
Synonyms (NCBI Gene)	HZF-3IDLDPNOTNURR1RNR1TINUR
Chromosome	2
Chromosome location	2q24.1
Summary	This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parki

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553456695	->C	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1573811478	->GTCG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

232

Show/Hide all (232)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003538	hsa-miR-372-3p	Luciferase reporter assayMicroarray	19885849
MIRT003538	hsa-miR-372-3p	Luciferase reporter assayMicroarray	19885849
MIRT003537	hsa-miR-302d-3p	Luciferase reporter assayMicroarray	19885849
MIRT003537	hsa-miR-302d-3p	Luciferase reporter assayMicroarray	19885849
MIRT003537	hsa-miR-302d-3p	Luciferase reporter assayMicroarray	19885849
MIRT003537	hsa-miR-302d-3p	Luciferase reporter assayMicroarray	19885849
MIRT003536	hsa-miR-19a-3p	Luciferase reporter assayMicroarray	19885849
MIRT003535	hsa-miR-217	Luciferase reporter assayMicroarray	19885849
MIRT018465	hsa-miR-335-5p	Microarray	18185580
MIRT045837	hsa-miR-133a-3p	CLASH	23622248
MIRT710550	hsa-miR-548c-3p	HITS-CLIP	19536157
MIRT710549	hsa-miR-34a-3p	HITS-CLIP	19536157
MIRT710548	hsa-miR-3617-3p	HITS-CLIP	19536157
MIRT710547	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT710546	hsa-miR-4310	HITS-CLIP	19536157
MIRT710545	hsa-miR-7157-5p	HITS-CLIP	19536157
MIRT710544	hsa-miR-520f-5p	HITS-CLIP	19536157
MIRT731262	hsa-miR-129-5p	Luciferase reporter assay	26824182
MIRT731262	hsa-miR-129-5p	Luciferase reporter assay	26824182
MIRT731262	hsa-miR-129-5p	Luciferase reporter assay	26824182
MIRT731262	hsa-miR-129-5p	Luciferase reporter assay	26824182
MIRT710550	hsa-miR-548c-3p	HITS-CLIP	19536157
MIRT710549	hsa-miR-34a-3p	HITS-CLIP	19536157
MIRT710548	hsa-miR-3617-3p	HITS-CLIP	19536157
MIRT710547	hsa-miR-3675-3p	HITS-CLIP	19536157
MIRT710546	hsa-miR-4310	HITS-CLIP	19536157
MIRT710545	hsa-miR-7157-5p	HITS-CLIP	19536157
MIRT710544	hsa-miR-520f-5p	HITS-CLIP	19536157
MIRT1192837	hsa-miR-1	CLIP-seq
MIRT1192838	hsa-miR-1203	CLIP-seq
MIRT1192839	hsa-miR-1205	CLIP-seq
MIRT1192840	hsa-miR-1206	CLIP-seq
MIRT1192841	hsa-miR-1224-3p	CLIP-seq
MIRT1192842	hsa-miR-1227	CLIP-seq
MIRT1192843	hsa-miR-1258	CLIP-seq
MIRT1192844	hsa-miR-1290	CLIP-seq
MIRT1192845	hsa-miR-1299	CLIP-seq
MIRT1192846	hsa-miR-132	CLIP-seq
MIRT1192847	hsa-miR-184	CLIP-seq
MIRT1192848	hsa-miR-186	CLIP-seq
MIRT1192849	hsa-miR-200b	CLIP-seq
MIRT1192850	hsa-miR-200c	CLIP-seq
MIRT1192851	hsa-miR-204	CLIP-seq
MIRT1192852	hsa-miR-2054	CLIP-seq
MIRT1192853	hsa-miR-211	CLIP-seq
MIRT1192854	hsa-miR-212	CLIP-seq
MIRT1192855	hsa-miR-2681	CLIP-seq
MIRT1192856	hsa-miR-2682	CLIP-seq
MIRT1192857	hsa-miR-28-3p	CLIP-seq
MIRT1192858	hsa-miR-299-5p	CLIP-seq
MIRT1192859	hsa-miR-3065-5p	CLIP-seq
MIRT1192860	hsa-miR-30a	CLIP-seq
MIRT1192861	hsa-miR-30b	CLIP-seq
MIRT1192862	hsa-miR-30c	CLIP-seq
MIRT1192863	hsa-miR-30d	CLIP-seq
MIRT1192864	hsa-miR-30e	CLIP-seq
MIRT1192865	hsa-miR-3180-5p	CLIP-seq
MIRT1192866	hsa-miR-320a	CLIP-seq
MIRT1192867	hsa-miR-320b	CLIP-seq
MIRT1192868	hsa-miR-320c	CLIP-seq
MIRT1192869	hsa-miR-320d	CLIP-seq
MIRT1192870	hsa-miR-34a	CLIP-seq
MIRT1192871	hsa-miR-34c-5p	CLIP-seq
MIRT1192872	hsa-miR-3607-5p	CLIP-seq
MIRT1192873	hsa-miR-3613-5p	CLIP-seq
MIRT1192874	hsa-miR-361-5p	CLIP-seq
MIRT1192875	hsa-miR-365	CLIP-seq
MIRT1192876	hsa-miR-3657	CLIP-seq
MIRT1192877	hsa-miR-3665	CLIP-seq
MIRT1192878	hsa-miR-3714	CLIP-seq
MIRT1192879	hsa-miR-371-5p	CLIP-seq
MIRT1192880	hsa-miR-371b-5p	CLIP-seq
MIRT1192881	hsa-miR-3924	CLIP-seq
MIRT1192882	hsa-miR-409-3p	CLIP-seq
MIRT1192883	hsa-miR-410	CLIP-seq
MIRT1192884	hsa-miR-4261	CLIP-seq
MIRT1192885	hsa-miR-4270	CLIP-seq
MIRT1192886	hsa-miR-4282	CLIP-seq
MIRT1192887	hsa-miR-429	CLIP-seq
MIRT1192888	hsa-miR-4328	CLIP-seq
MIRT1192889	hsa-miR-4429	CLIP-seq
MIRT1192890	hsa-miR-4441	CLIP-seq
MIRT1192891	hsa-miR-4496	CLIP-seq
MIRT1192892	hsa-miR-449a	CLIP-seq
MIRT1192893	hsa-miR-449b	CLIP-seq
MIRT1192894	hsa-miR-449c	CLIP-seq
MIRT1192895	hsa-miR-4502	CLIP-seq
MIRT1192896	hsa-miR-455-5p	CLIP-seq
MIRT1192897	hsa-miR-4646-3p	CLIP-seq
MIRT1192898	hsa-miR-4653-3p	CLIP-seq
MIRT1192899	hsa-miR-4666-5p	CLIP-seq
MIRT1192900	hsa-miR-4669	CLIP-seq
MIRT1192901	hsa-miR-4685-5p	CLIP-seq
MIRT1192902	hsa-miR-4694-5p	CLIP-seq
MIRT1192903	hsa-miR-4698	CLIP-seq
MIRT1192904	hsa-miR-4709-5p	CLIP-seq
MIRT1192905	hsa-miR-4727-5p	CLIP-seq
MIRT1192906	hsa-miR-4729	CLIP-seq
MIRT1192907	hsa-miR-4762-3p	CLIP-seq
MIRT1192908	hsa-miR-4763-5p	CLIP-seq
MIRT1192909	hsa-miR-4766-5p	CLIP-seq
MIRT1192910	hsa-miR-4781-3p	CLIP-seq
MIRT1192911	hsa-miR-4799-5p	CLIP-seq
MIRT1192912	hsa-miR-4802-3p	CLIP-seq
MIRT1192913	hsa-miR-4804-5p	CLIP-seq
MIRT1192914	hsa-miR-485-3p	CLIP-seq
MIRT1192915	hsa-miR-511	CLIP-seq
MIRT1192916	hsa-miR-513c	CLIP-seq
MIRT1192917	hsa-miR-514b-5p	CLIP-seq
MIRT1192918	hsa-miR-520d-5p	CLIP-seq
MIRT1192919	hsa-miR-524-5p	CLIP-seq
MIRT1192920	hsa-miR-548an	CLIP-seq
MIRT1192921	hsa-miR-579	CLIP-seq
MIRT1192922	hsa-miR-605	CLIP-seq
MIRT1192923	hsa-miR-613	CLIP-seq
MIRT1192924	hsa-miR-656	CLIP-seq
MIRT1192925	hsa-miR-657	CLIP-seq
MIRT1192926	hsa-miR-665	CLIP-seq
MIRT1192927	hsa-miR-875-3p	CLIP-seq
MIRT1192928	hsa-miR-938	CLIP-seq
MIRT1192929	hsa-miR-95	CLIP-seq
MIRT1192837	hsa-miR-1	CLIP-seq
MIRT2055992	hsa-miR-1178	CLIP-seq
MIRT1192843	hsa-miR-1258	CLIP-seq
MIRT2055993	hsa-miR-1264	CLIP-seq
MIRT1192844	hsa-miR-1290	CLIP-seq
MIRT1192845	hsa-miR-1299	CLIP-seq
MIRT1192846	hsa-miR-132	CLIP-seq
MIRT2055994	hsa-miR-134	CLIP-seq
MIRT1192847	hsa-miR-184	CLIP-seq
MIRT1192849	hsa-miR-200b	CLIP-seq
MIRT1192850	hsa-miR-200c	CLIP-seq
MIRT1192851	hsa-miR-204	CLIP-seq
MIRT2055995	hsa-miR-2053	CLIP-seq
MIRT1192852	hsa-miR-2054	CLIP-seq
MIRT1192853	hsa-miR-211	CLIP-seq
MIRT1192854	hsa-miR-212	CLIP-seq
MIRT2055996	hsa-miR-2909	CLIP-seq
MIRT2055997	hsa-miR-3118	CLIP-seq
MIRT2055998	hsa-miR-3127-3p	CLIP-seq
MIRT2055999	hsa-miR-3152-3p	CLIP-seq
MIRT2056000	hsa-miR-3162-5p	CLIP-seq
MIRT2056001	hsa-miR-3164	CLIP-seq
MIRT1192866	hsa-miR-320a	CLIP-seq
MIRT1192867	hsa-miR-320b	CLIP-seq
MIRT1192868	hsa-miR-320c	CLIP-seq
MIRT1192869	hsa-miR-320d	CLIP-seq
MIRT2056002	hsa-miR-342-3p	CLIP-seq
MIRT1192872	hsa-miR-3607-5p	CLIP-seq
MIRT1192874	hsa-miR-361-5p	CLIP-seq
MIRT2056003	hsa-miR-376c	CLIP-seq
MIRT1192881	hsa-miR-3924	CLIP-seq
MIRT1192882	hsa-miR-409-3p	CLIP-seq
MIRT1192884	hsa-miR-4261	CLIP-seq
MIRT2056004	hsa-miR-4265	CLIP-seq
MIRT1192887	hsa-miR-429	CLIP-seq
MIRT2056005	hsa-miR-4296	CLIP-seq
MIRT2056006	hsa-miR-4313	CLIP-seq
MIRT2056007	hsa-miR-4322	CLIP-seq
MIRT2056008	hsa-miR-4426	CLIP-seq
MIRT1192889	hsa-miR-4429	CLIP-seq
MIRT1192891	hsa-miR-4496	CLIP-seq
MIRT2056009	hsa-miR-4501	CLIP-seq
MIRT1192895	hsa-miR-4502	CLIP-seq
MIRT2056010	hsa-miR-4641	CLIP-seq
MIRT2056011	hsa-miR-4645-3p	CLIP-seq
MIRT2056012	hsa-miR-4647	CLIP-seq
MIRT2056013	hsa-miR-4662b	CLIP-seq
MIRT2056014	hsa-miR-4668-3p	CLIP-seq
MIRT1192902	hsa-miR-4694-5p	CLIP-seq
MIRT2056015	hsa-miR-4711-3p	CLIP-seq
MIRT1192907	hsa-miR-4762-3p	CLIP-seq
MIRT1192910	hsa-miR-4781-3p	CLIP-seq
MIRT1192913	hsa-miR-4804-5p	CLIP-seq
MIRT1192918	hsa-miR-520d-5p	CLIP-seq
MIRT1192919	hsa-miR-524-5p	CLIP-seq
MIRT2056016	hsa-miR-562	CLIP-seq
MIRT2056017	hsa-miR-576-3p	CLIP-seq
MIRT2056018	hsa-miR-587	CLIP-seq
MIRT2056019	hsa-miR-593	CLIP-seq
MIRT1192923	hsa-miR-613	CLIP-seq
MIRT1192924	hsa-miR-656	CLIP-seq
MIRT1192925	hsa-miR-657	CLIP-seq
MIRT2056020	hsa-miR-767-3p	CLIP-seq
MIRT1192927	hsa-miR-875-3p	CLIP-seq
MIRT2056021	hsa-miR-885-5p	CLIP-seq
MIRT1192837	hsa-miR-1	CLIP-seq
MIRT1192845	hsa-miR-1299	CLIP-seq
MIRT1192846	hsa-miR-132	CLIP-seq
MIRT1192847	hsa-miR-184	CLIP-seq
MIRT1192854	hsa-miR-212	CLIP-seq
MIRT1192866	hsa-miR-320a	CLIP-seq
MIRT1192867	hsa-miR-320b	CLIP-seq
MIRT1192868	hsa-miR-320c	CLIP-seq
MIRT1192869	hsa-miR-320d	CLIP-seq
MIRT1192882	hsa-miR-409-3p	CLIP-seq
MIRT1192884	hsa-miR-4261	CLIP-seq
MIRT1192889	hsa-miR-4429	CLIP-seq
MIRT1192902	hsa-miR-4694-5p	CLIP-seq
MIRT1192910	hsa-miR-4781-3p	CLIP-seq
MIRT1192913	hsa-miR-4804-5p	CLIP-seq
MIRT1192918	hsa-miR-520d-5p	CLIP-seq
MIRT1192919	hsa-miR-524-5p	CLIP-seq
MIRT1192923	hsa-miR-613	CLIP-seq
MIRT1192927	hsa-miR-875-3p	CLIP-seq
MIRT1192872	hsa-miR-3607-5p	CLIP-seq
MIRT1192881	hsa-miR-3924	CLIP-seq
MIRT1192898	hsa-miR-4653-3p	CLIP-seq
MIRT1192924	hsa-miR-656	CLIP-seq
MIRT2582516	hsa-miR-147	CLIP-seq
MIRT2582517	hsa-miR-3144-3p	CLIP-seq
MIRT2582518	hsa-miR-3160-5p	CLIP-seq
MIRT2582519	hsa-miR-323-3p	CLIP-seq
MIRT1192875	hsa-miR-365	CLIP-seq
MIRT2582520	hsa-miR-369-3p	CLIP-seq
MIRT2582521	hsa-miR-374a	CLIP-seq
MIRT2582522	hsa-miR-374b	CLIP-seq
MIRT1192883	hsa-miR-410	CLIP-seq
MIRT2582523	hsa-miR-4724-5p	CLIP-seq
MIRT1192905	hsa-miR-4727-5p	CLIP-seq
MIRT2582524	hsa-miR-4742-3p	CLIP-seq
MIRT1192908	hsa-miR-4763-5p	CLIP-seq
MIRT2582525	hsa-miR-561	CLIP-seq
MIRT2056016	hsa-miR-562	CLIP-seq
MIRT2582526	hsa-miR-580	CLIP-seq
MIRT1192924	hsa-miR-656	CLIP-seq
MIRT1192928	hsa-miR-938	CLIP-seq
MIRT2582519	hsa-miR-323-3p	CLIP-seq
MIRT2582520	hsa-miR-369-3p	CLIP-seq
MIRT2582521	hsa-miR-374a	CLIP-seq
MIRT2582522	hsa-miR-374b	CLIP-seq
MIRT1192883	hsa-miR-410	CLIP-seq

Show/Hide all (80)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	18463503
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	22988876
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
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	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001666	Process	Response to hypoxia	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	TAS	16243425
GO:0001975	Process	Response to amphetamine	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	16243425
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	16243425
GO:0005515	Function	Protein binding	IPI	20195357, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17184956, 24399192
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16243425
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0006351	Process	DNA-templated transcription	IDA	17184956
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008013	Function	Beta-catenin binding	TAS	22988876, 24115276
GO:0008270	Function	Zinc ion binding	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IEA
GO:0021953	Process	Central nervous system neuron differentiation	IBA
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021986	Process	Habenula development	IEA
GO:0030522	Process	Intracellular receptor signaling pathway	IEA
GO:0032991	Component	Protein-containing complex	TAS	16243425
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035259	Function	Nuclear glucocorticoid receptor binding	IBA
GO:0035259	Function	Nuclear glucocorticoid receptor binding	IEA
GO:0042053	Process	Regulation of dopamine metabolic process	IEA
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042551	Process	Neuron maturation	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043576	Process	Regulation of respiratory gaseous exchange	IEA
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	24115276
GO:0046872	Function	Metal ion binding	IEA
GO:0046965	Function	Nuclear retinoid X receptor binding	TAS	16243425
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051866	Process	General adaptation syndrome	IEA
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	24115276
GO:0071376	Process	Cellular response to corticotropin-releasing hormone stimulus	IBA
GO:0071376	Process	Cellular response to corticotropin-releasing hormone stimulus	IEA
GO:0071376	Process	Cellular response to corticotropin-releasing hormone stimulus	ISS
GO:0071542	Process	Dopaminergic neuron differentiation	IBA
GO:0071542	Process	Dopaminergic neuron differentiation	IEA
GO:0071542	Process	Dopaminergic neuron differentiation	ISS
GO:1904948	Process	Midbrain dopaminergic neuron differentiation	TAS	16243425, 22988876, 24115276, 24431302
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IMP	19429166

MIM	HGNC	e!Ensembl
601828	7981	ENSG00000153234

P43354

Protein name

Nuclear receptor subfamily 4 group A member 2 (Immediate-early response protein NOT) (Orphan nuclear receptor NURR1) (Transcriptionally-inducible nuclear receptor)

Protein function

Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development (PubMed:15716272, PubMed:17184956). It is crucial for expression of a set of genes such as S

PDB

1OVL , 5Y41 , 5YD6 , 6DDA , 6L6L , 6L6Q , 7WNH , 8CYO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	261 → 330	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	392 → 579	Ligand-binding domain of nuclear hormone receptor	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in a number of cell lines of T-cell, B-cell and fibroblast origin. Strong expression in brain tissue.

Sequence

MPCVQAQYGSSPQGASPASQSYSYHSSGEYSSDFLTPEFVKFSMDLTNTEITATTSLPSF
STFMDNYSTGYDVKPPCLYQMPLSGQQSSIKVEDIQMHNYQQHSHLPPQSEEMMPHSGSV
YYKPSSPPTPTTPGFQVQHSPMWDDPGSLHNFHQNYVATTHMIEQRKTPVSRLSLFSFKQ
SPPGTPVSSCQMRFDGPLHVPMNPEPAGSHHVVDGQTFAVPNPIRKPASMGFPGLQIGHA
SQLLDTQVPSPPSRGSPSNEGLCAVCGDNAACQHYGVRTCEGCKGFFKRTVQKNAKYVCL
ANKNCPVDKRRRNRCQYCRFQKCLAVGMVKEVVRTDSLKGRRGRLPSKPKSPQEPSPPSP
PVSLISALVRAHVDSNPAMTSLDYSRFQANPDYQMSGDDTQHIQQFYDLLTGSMEIIRGW
AEKIPGFADLPKADQDLLFESAFLELFVLRLAYRSNPVEGKLIFCNGVVLHRLQCVRGFG
EWIDSIVEFSSNLQNMNIDISAFSCIAALAMVTERHGLKEPKRVEELQNKIVNCLKDHVT
FNNGGLNRPNYLSKLLGKLPELRTLCTQGLQRIFYLKLEDLVPPPAIIDKLFLDTLPF

Sequence length

598

Interactions

View interactions

	KEGG		Reactome
	Aldosterone synthesis and secretion Parathyroid hormone synthesis, secretion and action		Nuclear Receptor transcription pathway

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs1686821540	RCV001291378
Complex neurodevelopmental disorder	Likely pathogenic	rs2468285722	RCV002795916
Developmental disorder	Likely pathogenic	rs2468272048	RCV003127337
Epilepsy	Likely pathogenic	rs1553456695	RCV000656523
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism	Likely pathogenic; Pathogenic	rs2105601199, rs2105608859, rs2105605124, rs2105604954, rs2468286796, rs774629025, rs2468285695, rs2468287811, rs2468285722, rs769178148, rs2468279150, rs1686756273, rs2468282575	RCV005252120 RCV002260903 RCV002260904 RCV002260905 RCV002291393 RCV003151948 RCV003223543 RCV003322656 RCV003325933 RCV003333338 RCV003494082 RCV003990416 RCV003991314 RCV003991760 RCV002260695
Neurodevelopmental delay	Likely pathogenic	rs2105605019	RCV002274361
Neurodevelopmental disorder	Pathogenic	rs774629025	RCV001724280
Parkinson disease, late-onset	Pathogenic	rs2105605264	RCV002250155

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autism	Benign	rs797046133	RCV000195213
History of neurodevelopmental disorder	not provided	rs2105591753	RCV001825194
NR4A2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs143618355, rs375203930, rs2468286647, rs16840266, rs957572776	RCV003903636 RCV003416786 RCV003414481 RCV003922420 RCV003981823
Parkinson Disease, Dominant/Recessive	Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs577936871, rs3832066, rs886054983	RCV000280528 RCV000331043 RCV000388031

Show/Hide Text Mining Associations (98)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alcoholism	Associate	23066323
Alzheimer Disease	Inhibit	16320253
Arthritis	Associate	11315917, 34248958
Arthritis Psoriatic	Associate	11315917
Arthritis Rheumatoid	Associate	11315917, 35508128
Arthritis Rheumatoid	Stimulate	22275273
Atherosclerosis	Associate	34248958
Attention Deficit Disorder with Hyperactivity	Associate	22294735
Autism Spectrum Disorder	Associate	27569545, 30504930
Autistic Disorder	Associate	30504930
Autoimmune Diseases	Stimulate	22771791
Autoimmune Diseases	Associate	31664129
Blast Crisis	Associate	32157296
Bursitis	Associate	39512681
Carcinogenesis	Associate	19908257, 23679312
Carcinoma Hepatocellular	Associate	27458175, 28423575, 34958112
Carcinoma Pancreatic Ductal	Associate	35582016
Cardiomyopathies	Associate	21546879
Cardiomyopathy Dilated	Inhibit	19332114
Cartilage Diseases	Associate	22275273
Cognition Disorders	Associate	27629381
Colorectal Neoplasms	Associate	21757690, 23322982
Coronary Restenosis	Associate	22230598
Depressive Disorder	Associate	23064081
Dermatitis Atopic	Associate	16354184
Developmental Disabilities	Associate	32366965
Diabetes Mellitus	Associate	37713834
Diabetic Nephropathies	Associate	37656997
Diffuse Neurofibrillary Tangles with Calcification	Inhibit	16320253
Epilepsy	Associate	32366965
Fatty Liver	Associate	37993474
Fetal Growth Retardation	Associate	34667209
Fibrosis	Associate	35903097, 36482877
Gastrointestinal Neoplasms	Associate	23322982
Glioblastoma	Associate	36649564
Glomerulonephritis IGA	Associate	28713898, 31392215
Glomerulonephritis Membranous	Associate	33754492
Gout	Associate	35524416, 35813414
Graft vs Host Disease	Associate	22771791
Hemoglobinuria Paroxysmal	Associate	28630090
Heredodegenerative Disorders Nervous System	Associate	33563249
HIV Infections	Inhibit	36499469
Hyperaldosteronism	Associate	21546879, 27777363
Hypertension Renal	Associate	24085434
Hypertensive Nephropathy	Associate	28713898
Hypoxia	Inhibit	34667209
Hypoxia Brain	Associate	34667209
Inflammation	Associate	11315917, 20126412, 22789442, 23283970, 23322982, 24852325, 31664129, 34096590, 34667209, 35797416, 36482877, 36577072
Inflammation	Stimulate	15972692
Inflammatory Bowel Diseases	Associate	31664129
Intellectual Disability	Associate	19156171
Joint Diseases	Associate	15972692
Language Development Disorders	Associate	27569545
Leiomyoma	Inhibit	23550059
Leukemia Myeloid Acute	Inhibit	37961948
Liver Cirrhosis	Associate	35903097
Lymphatic Metastasis	Stimulate	23803035
Melanoma	Associate	28607006
Memory Disorders	Associate	33563249
Mood Disorders	Associate	23064081
Multiple Myeloma	Associate	34830117
Multiple Sclerosis	Associate	24852325
Muscle Hypotonia	Associate	32366965
Myelodysplastic Syndromes	Associate	25122688
Nasopharyngeal Carcinoma	Associate	23803035
Neoplasm Metastasis	Associate	23322982
Neoplasms	Associate	19908257, 23322982, 23803035, 27036119, 27121375, 31427592, 34096590, 35582016, 36011316, 36649564, 37713834
Neoplasms	Inhibit	24086717, 28423575, 32157296
Nerve Degeneration	Associate	32916865, 33129359
Nervous System Diseases	Associate	36835019
Neurodegenerative Diseases	Associate	35163587
Neurologic Manifestations	Associate	23064081, 23322982
Obesity	Associate	23066323
Osteoarthritis	Stimulate	22275273
Osteoarthritis Hip	Associate	38200556
Pancreatic Neoplasms	Associate	22405837, 35582016
Parkinson Disease	Associate	16320253, 17203291, 18684475, 19429166, 23322982, 26112716
Pre Eclampsia	Stimulate	34667209
Primary Myelofibrosis	Associate	28098757
Prostatic Neoplasms	Associate	23679312, 27036119
Psoriasis	Associate	17671512
Pterygium	Associate	36187094
Reinfection	Associate	22230598
Rhinitis Allergic	Associate	34672863
Schizophrenia	Associate	22294735, 33563249
Scleroderma Systemic	Associate	36482877
Seizures	Associate	32366965
Sjogren's Syndrome	Associate	28621822
Skin Neoplasms	Associate	23950896
Squamous Cell Carcinoma of Head and Neck	Associate	31387183
Stomach Neoplasms	Associate	24086717
Supranuclear Palsy Progressive	Inhibit	16320253
Synucleinopathies	Associate	16320253
Tauopathies	Associate	16320253
Urinary Bladder Neoplasms	Associate	19908257
Uterine Cervical Dysplasia	Associate	37932662
Uterine Cervical Neoplasms	Associate	36011316
Vascular Diseases	Associate	22049082

NR4A2 (nuclear receptor subfamily 4 group A member 2)