ARNT2
entrez
9915
canonical
uniprot
Q9HBZ2
canonical
ensembl
ENSG00000172379
resolver
ensp
ENSP00000307479
resolver
genesymbol
ARNT2
resolver
genesymbol_syn
BHLHE1
resolver
genesymbol_syn
KIAA0307
resolver
hgnc
HGNC:16876
resolver
uniprot
B4DIS7
resolver
uniprot
O15024
resolver
uniprot
Q86TN1
resolver
uniprot
Q8IYC2
resolver
uniprot
X5DQN9
resolver
uniprot_entry
ARNT2_HUMAN
resolver
uniprot_entry
Q86TN1_HUMAN
resolver
uniprot_entry
X5DQN9_HUMAN
resolver
uniprot_sec
B4DIS7
resolver
uniprot_sec
O15024
resolver
uniprot_sec
Q8IYC2
resolver
amino_acid_sequence
MATPAAVNPPEMASDIPGSVTLPVAPMAATGQVRMAGAMPARGGKRRSGMDFDDEDGEGPSKFSRENHSEIERRRRNKMTQYITELSDMVPTCSALARKPDKLTILRMAVSHMKSMRGTGNKSTDGAYKPSFLTEQELKHLILEAADGFLFVVAAETGRVIYVSDSVTPVLNQPQSEWFGSTLYEQVHPDDVEKLREQLCTSENSMTGRILDLKTGTVKKEGQQSSMRMCMGSRRSFICRMRCGNAPLDHLPLNRITTMRKRFRNGLGPVKEGEAQYAVVHCTGYIKAWPPAGMTIPEEDADVGQGSKYCLVAIGRLQVTSSPVCMDMNGMSVPTEFLSRHNSDGIITFVDPRCISVIGYQPQDLLGKDILEFCHPEDQSHLRESFQQVVKLKGQVLSVMYRFRTKNREWMLIRTSSFTFQNPYSDEIEYIICTNTNVKQLQQQQAELEVHQRDGLSSYDLSQVPVPNLPAGVHEAGKSVEKADAIFSQERDPRFAEMFAGISASEKKMMSSASAAGTQQIYSQGSPFPSGHSGKAFSSSVVHVPGVNDIQSSSSTGQNMSQISRQLNQSQVAWTGSRPPFPGQQIPSQSSKTQSSPFGIGTSHTYPADPSSYSPLSSPATSSPSGNAYSSLANRTPGFAESGQSSGQFQGRPSEVWSQWQSQHHGQQSGEQHSHQQPGQTEVFQDMLPMPGDPTQGTGNYNIEDFADLGMFPPFSE
uniprot
proteins
disease_involvement
DISEASE: Webb-Dattani syndrome (WEDAS) [MIM:615926]: A disorder characterized by postnatal microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, global developmental delay, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract. {ECO:0000269|PubMed:24022475}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that plays a role in the development of the hypothalamo-pituitary axis, postnatal brain growth, and visual and renal function (PubMed:24022475). Specifically recognizes the xenobiotic response element (XRE). {ECO:0000269|PubMed:24022475}.
uniprot
proteins
mass_dalton
78691
uniprot
proteins
pubmed
12210012
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
24022475
uniprot
proteins
pubmed
24465693
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
717
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:24465693}.
uniprot
proteins