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O14813

- PHX2A_HUMAN

UniProt

O14813 - PHX2A_HUMAN

Protein

Paired mesoderm homeobox protein 2A

Gene

PHOX2A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (11 Oct 2005)
      Previous versions | rss
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    Functioni

    May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi90 – 14960HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. dopaminergic neuron differentiation Source: BHF-UCL
    2. locus ceruleus development Source: Ensembl
    3. midbrain development Source: Ensembl
    4. noradrenergic neuron differentiation Source: BHF-UCL
    5. oculomotor nerve formation Source: Ensembl
    6. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    7. regulation of respiratory gaseous exchange Source: Ensembl
    8. somatic motor neuron differentiation Source: Ensembl
    9. sympathetic nervous system development Source: Ensembl
    10. transcription, DNA-templated Source: UniProtKB-KW
    11. trochlear nerve formation Source: Ensembl

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiO14813.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Paired mesoderm homeobox protein 2A
    Alternative name(s):
    ARIX1 homeodomain protein
    Aristaless homeobox protein homolog
    Paired-like homeobox 2A
    Gene namesi
    Name:PHOX2A
    Synonyms:ARIX, PMX2A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:691. PHOX2A.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nuclear chromatin Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Congenital fibrosis of extraocular muscles 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721A → V in CFEOM2. 1 Publication
    VAR_019014

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi602078. phenotype.
    Orphaneti45358. Congenital fibrosis of extraocular muscles.
    PharmGKBiPA28093.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 284284Paired mesoderm homeobox protein 2APRO_0000049259Add
    BLAST

    Proteomic databases

    PaxDbiO14813.
    PRIDEiO14813.

    PTM databases

    PhosphoSiteiO14813.

    Expressioni

    Gene expression databases

    BgeeiO14813.
    CleanExiHS_PHOX2A.
    GenevestigatoriO14813.

    Interactioni

    Protein-protein interaction databases

    BioGridi106894. 5 interactions.
    STRINGi9606.ENSP00000298231.

    Structurei

    3D structure databases

    ProteinModelPortaliO14813.
    SMRiO14813. Positions 92-149.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi193 – 1986Poly-Pro
    Compositional biasi237 – 24610Poly-Gly

    Sequence similaritiesi

    Belongs to the paired homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG301263.
    HOGENOMiHOG000013060.
    HOVERGENiHBG053590.
    InParanoidiO14813.
    KOiK09330.
    OMAiKGPLWAG.
    PhylomeDBiO14813.
    TreeFamiTF351612.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O14813-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDYSYLNSYD SCVAAMEASA YGDFGACSQP GGFQYSPLRP AFPAAGPPCP    50
    ALGSSNCALG ALRDHQPAPY SAVPYKFFPE PSGLHEKRKQ RRIRTTFTSA 100
    QLKELERVFA ETHYPDIYTR EELALKIDLT EARVQVWFQN RRAKFRKQER 150
    AASAKGAAGA AGAKKGEARC SSEDDDSKES TCSPTPDSTA SLPPPPAPGL 200
    ASPRLSPSPL PVALGSGPGP GPGPQPLKGA LWAGVAGGGG GGPGAGAAEL 250
    LKAWQPAESG PGPFSGVLSS FHRKPGPALK TNLF 284
    Length:284
    Mass (Da):29,653
    Last modified:October 11, 2005 - v2
    Checksum:iF123D5695FB45A99
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti76 – 761K → N in AAB82744. (PubMed:8661014)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti72 – 721A → V in CFEOM2. 1 Publication
    VAR_019014
    Natural varianti256 – 2561P → Q May be involved in congenital central hypoventilation syndrome. 1 Publication
    VAR_019016

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF022724, AF022722, AF022723 Genomic DNA. Translation: AAB82744.1.
    AK290645 mRNA. Translation: BAF83334.1.
    CH471076 Genomic DNA. Translation: EAW74856.1.
    BC041564 mRNA. Translation: AAH41564.1.
    CCDSiCCDS8214.1.
    RefSeqiNP_005160.2. NM_005169.3.
    UniGeneiHs.731115.

    Genome annotation databases

    EnsembliENST00000298231; ENSP00000298231; ENSG00000165462.
    GeneIDi401.
    KEGGihsa:401.
    UCSCiuc001osh.4. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF022724 , AF022722 , AF022723 Genomic DNA. Translation: AAB82744.1 .
    AK290645 mRNA. Translation: BAF83334.1 .
    CH471076 Genomic DNA. Translation: EAW74856.1 .
    BC041564 mRNA. Translation: AAH41564.1 .
    CCDSi CCDS8214.1.
    RefSeqi NP_005160.2. NM_005169.3.
    UniGenei Hs.731115.

    3D structure databases

    ProteinModelPortali O14813.
    SMRi O14813. Positions 92-149.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106894. 5 interactions.
    STRINGi 9606.ENSP00000298231.

    PTM databases

    PhosphoSitei O14813.

    Proteomic databases

    PaxDbi O14813.
    PRIDEi O14813.

    Protocols and materials databases

    DNASUi 401.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298231 ; ENSP00000298231 ; ENSG00000165462 .
    GeneIDi 401.
    KEGGi hsa:401.
    UCSCi uc001osh.4. human.

    Organism-specific databases

    CTDi 401.
    GeneCardsi GC11M071950.
    GeneReviewsi PHOX2A.
    HGNCi HGNC:691. PHOX2A.
    MIMi 602078. phenotype.
    602753. gene.
    neXtProti NX_O14813.
    Orphaneti 45358. Congenital fibrosis of extraocular muscles.
    PharmGKBi PA28093.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG301263.
    HOGENOMi HOG000013060.
    HOVERGENi HBG053590.
    InParanoidi O14813.
    KOi K09330.
    OMAi KGPLWAG.
    PhylomeDBi O14813.
    TreeFami TF351612.

    Enzyme and pathway databases

    SignaLinki O14813.

    Miscellaneous databases

    GeneWikii PHOX2A.
    GenomeRNAii 401.
    NextBioi 1681.
    PROi O14813.
    SOURCEi Search...

    Gene expression databases

    Bgeei O14813.
    CleanExi HS_PHOX2A.
    Genevestigatori O14813.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13."
      Johnson K.R., Smith L., Johnson D.K., Rhodes J., Rinchik E.M., Thayer M., Lewis E.J.
      Genomics 33:527-531(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Embryo.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    5. "Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2."
      Nakano M., Yamada K., Fain J., Sener E.C., Selleck C.J., Awad A.H., Zwaan J., Mullaney P.B., Bosley T.M., Engle E.C.
      Nat. Genet. 29:315-320(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CFEOM2 VAL-72.
    6. Cited for: VARIANT GLN-256.

    Entry informationi

    Entry nameiPHX2A_HUMAN
    AccessioniPrimary (citable) accession number: O14813
    Secondary accession number(s): A8K3N0, Q8IVZ2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: October 11, 2005
    Last modified: October 1, 2014
    This is version 141 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3