LOCUS NP_001412027 182 aa linear PRI 15-OCT-2024
DEFINITION paired mesoderm homeobox protein 2A isoform 4 [Homo sapiens].
ACCESSION NP_001412027
VERSION NP_001412027.1
DBSOURCE REFSEQ: accession NM_001425098.1
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 182)
AUTHORS Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
TITLE Interactome Mapping Provides a Network of Neurodegenerative Disease
Proteins and Uncovers Widespread Protein Aggregation in Affected
Brains
JOURNAL Cell Rep 32 (7), 108050 (2020)
PUBMED 32814053
REFERENCE 2 (residues 1 to 182)
AUTHORS Song,N.N., Ma,P., Zhang,Q., Zhang,L., Wang,H., Zhang,L., Zhu,L.,
He,C.H., Mao,B. and Ding,Y.Q.
TITLE Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for
noradrenergic neuron development
JOURNAL Development 147 (6) (2020)
PUBMED 32094113
REMARK Publication Status: Online-Only
REFERENCE 3 (residues 1 to 182)
AUTHORS Heidary,G., Mackinnon,S., Elliott,A., Barry,B.J., Engle,E.C. and
Hunter,D.G.
TITLE Outcomes of strabismus surgery in genetically confirmed congenital
fibrosis of the extraocular muscles
JOURNAL J AAPOS 23 (5), 253 (2019)
PUBMED 31541710
REMARK GeneRIF: Outcomes of strabismus surgery in genetically confirmed
congenital fibrosis of the extraocular muscles.
REFERENCE 4 (residues 1 to 182)
AUTHORS Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
Schubeler,D., Vinson,C. and Taipale,J.
TITLE Impact of cytosine methylation on DNA binding specificities of
human transcription factors
JOURNAL Science 356 (6337) (2017)
PUBMED 28473536
REFERENCE 5 (residues 1 to 182)
AUTHORS Di Lascio,S., Saba,E., Belperio,D., Raimondi,A., Lucchetti,H.,
Fornasari,D. and Benfante,R.
TITLE PHOX2A and PHOX2B are differentially regulated during retinoic
acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line
JOURNAL Exp Cell Res 342 (1), 62-71 (2016)
PUBMED 26902400
REMARK GeneRIF: PHOX2A expression is finely controlled during retinoic
acid differentiation and this, together with PHOX2B
down-regulation.
REFERENCE 6 (residues 1 to 182)
AUTHORS Wang,S.M., Zwaan,J., Mullaney,P.B., Jabak,M.H., Al-Awad,A.,
Beggs,A.H. and Engle,E.C.
TITLE Congenital fibrosis of the extraocular muscles type 2, an inherited
exotropic strabismus fixus, maps to distal 11q13
JOURNAL Am J Hum Genet 63 (2), 517-525 (1998)
PUBMED 9683611
REFERENCE 7 (residues 1 to 182)
AUTHORS Swanson,D.J., Zellmer,E. and Lewis,E.J.
TITLE The homeodomain protein Arix interacts synergistically with cyclic
AMP to regulate expression of neurotransmitter biosynthetic genes
JOURNAL J Biol Chem 272 (43), 27382-27392 (1997)
PUBMED 9341190
REFERENCE 8 (residues 1 to 182)
AUTHORS Merscher,S., Bekri,S., de Leeuw,B., Pedeutour,F., Grosgeorge,J.,
Shows,T.B., Mullenbach,R., Le Paslier,D., Nowak,N.J. and Gaudray,P.
TITLE A 5.5-Mb high-resolution integrated map of distal 11q13
JOURNAL Genomics 39 (3), 340-347 (1997)
PUBMED 9119371
REFERENCE 9 (residues 1 to 182)
AUTHORS Johnson,K.R., Smith,L., Johnson,D.K., Rhodes,J., Rinchik,E.M.,
Thayer,M. and Lewis,E.J.
TITLE Mapping of the ARIX homeodomain gene to mouse chromosome 7 and
human chromosome 11q13
JOURNAL Genomics 33 (3), 527-531 (1996)
PUBMED 8661014
REFERENCE 10 (residues 1 to 182)
AUTHORS Whitman,M.C., Jurgens,J.A., Hunter,D.G. and Engle,E.C.
TITLE Congenital Fibrosis of the Extraocular Muscles Overview
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301522
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AP000593.4.
Summary: The protein encoded by this gene contains a paired-like
homeodomain most similar to that of the Drosophila aristaless gene
product. The encoded protein plays a central role in development of
the autonomic nervous system. It regulates the expression of
tyrosine hydroxylase and dopamine beta-hydroxylase, two
catecholaminergic biosynthetic enzymes essential for the
differentiation and maintenance of the noradrenergic
neurotransmitter phenotype. The encoded protein has also been shown
to regulate transcription of the alpha3 nicotinic acetylcholine
receptor gene. Mutations in this gene have been associated with
autosomal recessive congenital fibrosis of the extraocular muscles.
[provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: ERR4352444.644810.1,
ERR4368410.501314.1 [ECO:0000332]
##Evidence-Data-END##
FEATURES Location/Qualifiers
source 1..182
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="11"
/map="11q13.4"
Protein 1..182
/product="paired mesoderm homeobox protein 2A isoform 4"
/note="arix homeodomain protein; aristaless homeobox
homolog; paired mesoderm homeobox protein 2A; ARIX1
homeodomain protein; aristaless homeobox protein homolog"
/calculated_mol_wt=20486
CDS 1..182
/gene="PHOX2A"
/gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
/coded_by="NM_001425098.1:173..721"
/note="isoform 4 is encoded by transcript variant 4"
/db_xref="GeneID:401"
/db_xref="HGNC:HGNC:691"
/db_xref="MIM:602753"
ORIGIN
1 mdysylnsyd scvaameasa ygdfgacsqp ggfqysplrp afpaagppcp algssncalg
61 alrdhqpapy savpykffpe psglhekrkq rrirttftsa qlkelervfa ethypdiytr
121 eelalkidlt earvqmfswp altgcprqkv ywrpkllsta lehsrrevpe lpkrrnwgkn
181 le
//