PHOX2B
entrez
8929
canonical
uniprot
Q99453
canonical
ensembl
ENSG00000109132
resolver
ensp
ENSP00000226382
resolver
enst
ENST00000226382
resolver
genesymbol
PHOX2B
resolver
genesymbol_syn
PMX2B
resolver
hgnc
HGNC:9143
resolver
uniprot
Q6PJD9
resolver
uniprot_entry
PHX2B_HUMAN
resolver
uniprot_sec
Q6PJD9
resolver
amino_acid_sequence
MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQYNPIRTTFGATSGCPSLTPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIRTTFTSAQLKELERVFAETHYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAAAAAAAAAKNGSSGKKSDSSRDDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGPSPAGAPGAAGPGGPGGEPGKGGAAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPGPGPITSIPDSLGGPFASVLSSLQRPNGAKAALVKSSMF
uniprot
proteins
disease_involvement
DISEASE: Central hypoventilation syndrome, congenital, 1 (CCHS1) [MIM:209880]: An autosomal dominant form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. {ECO:0000269|PubMed:12640453, ECO:0000269|PubMed:14566559, ECO:0000269|PubMed:15657873}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuroblastoma 2 (NBLST2) [MIM:613013]: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. {ECO:0000305|PubMed:15024693}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.
uniprot
proteins
mass_dalton
31621
uniprot
proteins
post_translational_modification
PTM: Monoubiquitinated at Lys-185 by the RNF220/ZC4H2 complex; leading to enhanced DNA-binding ability and transactivity. {ECO:0000250|UniProtKB:O35690}.
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
10395798
uniprot
proteins
pubmed
11034547
uniprot
proteins
pubmed
12640453
uniprot
proteins
pubmed
14566559
uniprot
proteins
pubmed
15024693
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15657873
uniprot
proteins
pubmed
16691592
uniprot
proteins
pubmed
9039501
uniprot
proteins
sequence_length
314
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins