NR4A2
entrez
4929
canonical
uniprot
P43354
canonical
ensembl
ENSG00000153234
resolver
ensp
ENSP00000344479
resolver
ensp
ENSP00000386993
resolver
ensp
ENSP00000389986
resolver
ensp
ENSP00000410952
resolver
ensp
ENSP00000514865
resolver
ensp
ENSP00000514868
resolver
ensp
ENSP00000541452
resolver
ensp
ENSP00000669412
resolver
enst
ENST00000700231
resolver
genesymbol
NR4A2
resolver
genesymbol_syn
NOT
resolver
genesymbol_syn
NURR1
resolver
genesymbol_syn
TINUR
resolver
hgnc
HGNC:7981
resolver
uniprot
A0A8V8TQR1
resolver
uniprot
F1D8N6
resolver
uniprot
F1DAL2
resolver
uniprot
Q16311
resolver
uniprot
Q53EL4
resolver
uniprot
Q53RZ2
resolver
uniprot
Q6NXU0
resolver
uniprot_entry
A0A8V8TQR1_HUMAN
resolver
uniprot_entry
F1D8N6_HUMAN
resolver
uniprot_entry
F1DAL2_HUMAN
resolver
uniprot_entry
NR4A2_HUMAN
resolver
uniprot_entry
Q53EL4_HUMAN
resolver
uniprot_sec
Q16311
resolver
uniprot_sec
Q53RZ2
resolver
uniprot_sec
Q6NXU0
resolver
amino_acid_sequence
MPCVQAQYGSSPQGASPASQSYSYHSSGEYSSDFLTPEFVKFSMDLTNTEITATTSLPSFSTFMDNYSTGYDVKPPCLYQMPLSGQQSSIKVEDIQMHNYQQHSHLPPQSEEMMPHSGSVYYKPSSPPTPTTPGFQVQHSPMWDDPGSLHNFHQNYVATTHMIEQRKTPVSRLSLFSFKQSPPGTPVSSCQMRFDGPLHVPMNPEPAGSHHVVDGQTFAVPNPIRKPASMGFPGLQIGHASQLLDTQVPSPPSRGSPSNEGLCAVCGDNAACQHYGVRTCEGCKGFFKRTVQKNAKYVCLANKNCPVDKRRRNRCQYCRFQKCLAVGMVKEVVRTDSLKGRRGRLPSKPKSPQEPSPPSPPVSLISALVRAHVDSNPAMTSLDYSRFQANPDYQMSGDDTQHIQQFYDLLTGSMEIIRGWAEKIPGFADLPKADQDLLFESAFLELFVLRLAYRSNPVEGKLIFCNGVVLHRLQCVRGFGEWIDSIVEFSSNLQNMNIDISAFSCIAALAMVTERHGLKEPKRVEELQNKIVNCLKDHVTFNNGGLNRPNYLSKLLGKLPELRTLCTQGLQRIFYLKLEDLVPPPAIIDKLFLDTLPF
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911]: An autosomal dominant disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia with later development of dopa-responsive dystonia or parkinsonism. About half of patients develop various types of seizures. {ECO:0000269|PubMed:31428396, ECO:0000269|PubMed:31922365, ECO:0000269|PubMed:32366965, ECO:0000269|PubMed:33585677}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons (By similarity). {ECO:0000250|UniProtKB:Q06219, ECO:0000269|PubMed:15716272, ECO:0000269|PubMed:17184956}.
uniprot
proteins
mass_dalton
66591
uniprot
proteins
protein_family
NR4 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10216261
uniprot
proteins
pubmed
10216262
uniprot
proteins
pubmed
12774125
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15716272
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17184956
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23283970
uniprot
proteins
pubmed
31428396
uniprot
proteins
pubmed
31922365
uniprot
proteins
pubmed
32366965
uniprot
proteins
pubmed
33585677
uniprot
proteins
pubmed
7706727
uniprot
proteins
pubmed
7877627
uniprot
proteins
sequence_length
598
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23283970}. Nucleus {ECO:0000269|PubMed:17184956, ECO:0000269|PubMed:23283970}. Note=Mostly nuclear; oxidative stress promotes cytoplasmic localization. {ECO:0000269|PubMed:23283970}.
uniprot
proteins