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O14813

- PHX2A_HUMAN

UniProt

O14813 - PHX2A_HUMAN

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Protein

Paired mesoderm homeobox protein 2A

Gene
PHOX2A, ARIX, PMX2A
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 – 14960HomeoboxAdd
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
Complete GO annotation...

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 By similarity

GO - Cellular componenti

  1. nuclear chromatin Source: BHF-UCL
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

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.

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

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti76 – 761K → N in AAB82744. 1 Publication

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 140 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

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