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

    Gene ID: 401, updated on 23-Nov-2023

    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; AllianceGenome:HGNC:691
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PHOX2A in Genome Data Viewer
    Location:
    11q13.4
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (72239077..72244176, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (72165694..72170794, complement)
    105.20220307 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 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3717 Neighboring gene folate receptor beta Neighboring gene skeletal muscle cis-regulatory module in INPPL1 intron Neighboring gene inositol polyphosphate phosphatase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3718 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC52227

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    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)

    NEW Try the new Transcript table

    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_001425096.1NP_001412025.1  paired mesoderm homeobox protein 2A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP000593
    2. NM_001425097.1NP_001412026.1  paired mesoderm homeobox protein 2A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP000593
    3. NM_001425098.1NP_001412027.1  paired mesoderm homeobox protein 2A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP000593
    4. NM_005169.4NP_005160.2  paired mesoderm homeobox protein 2A isoform 1

      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
      A8K3N0, O14813, Q8IVZ2
      Related
      ENSP00000298231.5, ENST00000298231.5
      Conserved Domains (1) summary
      pfam00046
      Location:94147
      Homeobox; Homeobox domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047426947.1XP_047282903.1  paired mesoderm homeobox protein 2A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      72165694..72170794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368780.1XP_054224755.1  paired mesoderm homeobox protein 2A isoform X1