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PHOX2A paired like homeobox 2A [ Homo sapiens (human) ]

Gene ID: 401, updated on 12-Aug-2018

Summary

Official Symbol
PHOX2Aprovided by HGNC
Official Full Name
paired like homeobox 2Aprovided by HGNC
Primary source
HGNC:HGNC:691
See related
Ensembl:ENSG00000165462 MIM:602753; Vega:OTTHUMG00000167899
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARIX; FEOM2; NCAM2; PMX2A; CFEOM2
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]
Expression
Biased expression in adrenal (RPKM 6.0) and appendix (RPKM 0.4) See more
Orthologs

Genomic context

See PHOX2A in Genome Data Viewer
Location:
11q13.4
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (72239077..72244176, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (71950121..71955220, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene folate receptor beta Neighboring gene skeletal muscle cis-regulatory module in INPPL1 intron Neighboring gene inositol polyphosphate phosphatase like 1 Neighboring gene dedicator of cytokinesis 1 pseudogene Neighboring gene U2 small nuclear RNA auxiliary factor 1-like 4 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC52227

Gene Ontology Provided by GOA

Process Evidence Code Pubs
dopaminergic neuron differentiation IC
Inferred by Curator
more info
PubMed 
locus ceruleus development IEA
Inferred from Electronic Annotation
more info
 
midbrain development IEA
Inferred from Electronic Annotation
more info
 
noradrenergic neuron differentiation IC
Inferred by Curator
more info
PubMed 
noradrenergic neuron differentiation NAS
Non-traceable Author Statement
more info
PubMed 
oculomotor nerve formation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of respiratory gaseous exchange IEA
Inferred from Electronic Annotation
more info
 
somatic motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
sympathetic nervous system development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
trochlear nerve formation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
paired mesoderm homeobox protein 2A
Names
ARIX1 homeodomain protein
aristaless homeobox homolog
aristaless homeobox protein homolog
arix homeodomain protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008169.1 RefSeqGene

    Range
    5001..10100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005169.3NP_005160.2  paired mesoderm homeobox protein 2A

    See identical proteins and their annotated locations for NP_005160.2

    Status: REVIEWED

    Source sequence(s)
    AK290645, BC041564
    Consensus CDS
    CCDS8214.1
    UniProtKB/Swiss-Prot
    O14813
    Related
    ENSP00000298231.5, OTTHUMP00000237214, ENST00000298231.5, OTTHUMT00000396885
    Conserved Domains (1) summary
    pfam00046
    Location:94146
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    72239077..72244176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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