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

Gene ID: 401, updated on 8-Apr-2014
Official Symbol
PHOX2Aprovided by HGNC
Official Full Name
paired-like homeobox 2aprovided by HGNC
Primary source
HGNC:691
See related
Ensembl:ENSG00000165462; HPRD:04129; 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]
Location :
11q13.2
Sequence :
Chromosome: 11; NC_000011.10 (72239077..72244176, complement)
See PHOX2A in Epigenomics, MapViewer

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene folate receptor 1 (adult) Neighboring gene folate receptor 2 (fetal) 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter 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 
Preferred Names
paired mesoderm homeobox protein 2A
Names
paired mesoderm homeobox protein 2A
arix homeodomain protein
ARIX1 homeodomain protein
aristaless homeobox homolog
aristaless homeobox protein homolog

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 proteins identical to NP_005160.2

    Status: REVIEWED

    Source sequence(s)
    AK290645, BC041564
    Consensus CDS
    CCDS8214.1
    UniProtKB/Swiss-Prot
    O14813
    Related
    ENSP00000298231, OTTHUMP00000237214, ENST00000298231, OTTHUMT00000396885
    Conserved Domains (1) summary
    cd00086
    Location:91149
    Blast Score: 235
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38 Primary Assembly

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

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    68243281..68248023, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    71833572..71838671, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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