PHOX2A
entrez
401
canonical
uniprot
O14813
canonical
ensembl
ENSG00000165462
resolver
ensp
ENSP00000298231
resolver
enst
ENST00000298231
resolver
genesymbol
PHOX2A
resolver
genesymbol_syn
ARIX
resolver
genesymbol_syn
PMX2A
resolver
hgnc
HGNC:691
resolver
uniprot
A8K3N0
resolver
uniprot
Q8IVZ2
resolver
uniprot_entry
PHX2A_HUMAN
resolver
uniprot_sec
A8K3N0
resolver
uniprot_sec
Q8IVZ2
resolver
amino_acid_sequence
MDYSYLNSYDSCVAAMEASAYGDFGACSQPGGFQYSPLRPAFPAAGPPCPALGSSNCALGALRDHQPAPYSAVPYKFFPEPSGLHEKRKQRRIRTTFTSAQLKELERVFAETHYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAASAKGAAGAAGAKKGEARCSSEDDDSKESTCSPTPDSTASLPPPPAPGLASPRLSPSPLPVALGSGPGPGPGPQPLKGALWAGVAGGGGGGPGAGAAELLKAWQPAESGPGPFSGVLSSFHRKPGPALKTNLF
uniprot
proteins
disease_involvement
DISEASE: Fibrosis of extraocular muscles, congenital, 2 (CFEOM2) [MIM:602078]: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. {ECO:0000269|PubMed:11600883}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype (By similarity). {ECO:0000250|UniProtKB:Q62066}.
uniprot
proteins
mass_dalton
29653
uniprot
proteins
post_translational_modification
PTM: Monoubiquitinated at Lys-178 by the RNF220/ZC4H2 complex; leading to enhanced DNA-binding ability and transactivity. {ECO:0000250|UniProtKB:Q62066}.
uniprot
proteins
protein_family
Paired homeobox family
uniprot
proteins
pubmed
11600883
uniprot
proteins
pubmed
14566559
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
8661014
uniprot
proteins
sequence_length
284
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
uniprot
proteins