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Protein

Paired mesoderm homeobox protein 2A

Gene

PHOX2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi90 – 149HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiO14813
SIGNORiO14813

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000165462.5
HGNCiHGNC:691 PHOX2A
MIMi602753 gene
neXtProtiNX_O14813

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Fibrosis of extraocular muscles, congenital, 2 (CFEOM2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:602078
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01901472A → V in CFEOM2. 1 PublicationCorresponds to variant dbSNP:rs104894269EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi401
GeneReviewsiPHOX2A
MalaCardsiPHOX2A
MIMi602078 phenotype
OpenTargetsiENSG00000165462
Orphaneti45358 Congenital fibrosis of extraocular muscles
PharmGKBiPA28093

Polymorphism and mutation databases

BioMutaiPHOX2A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492591 – 284Paired mesoderm homeobox protein 2AAdd BLAST284

Proteomic databases

EPDiO14813
PaxDbiO14813
PeptideAtlasiO14813
PRIDEiO14813

PTM databases

iPTMnetiO14813
PhosphoSitePlusiO14813

Expressioni

Gene expression databases

BgeeiENSG00000165462
CleanExiHS_PHOX2A
ExpressionAtlasiO14813 baseline and differential
GenevisibleiO14813 HS

Organism-specific databases

HPAiHPA065621

Interactioni

Protein-protein interaction databases

BioGridi106894, 6 interactors
STRINGi9606.ENSP00000298231

Structurei

3D structure databases

ProteinModelPortaliO14813
SMRiO14813
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi193 – 198Poly-Pro6
Compositional biasi237 – 246Poly-Gly10

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0484 Eukaryota
ENOG4111QRU LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000013060
HOVERGENiHBG053590
InParanoidiO14813
KOiK09330
OMAiVPYKFFS
OrthoDBiEOG091G0YX9
PhylomeDBiO14813
TreeFamiTF351612

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

O14813-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDYSYLNSYD SCVAAMEASA YGDFGACSQP GGFQYSPLRP AFPAAGPPCP
60 70 80 90 100
ALGSSNCALG ALRDHQPAPY SAVPYKFFPE PSGLHEKRKQ RRIRTTFTSA
110 120 130 140 150
QLKELERVFA ETHYPDIYTR EELALKIDLT EARVQVWFQN RRAKFRKQER
160 170 180 190 200
AASAKGAAGA AGAKKGEARC SSEDDDSKES TCSPTPDSTA SLPPPPAPGL
210 220 230 240 250
ASPRLSPSPL PVALGSGPGP GPGPQPLKGA LWAGVAGGGG GGPGAGAAEL
260 270 280
LKAWQPAESG PGPFSGVLSS FHRKPGPALK TNLF
Length:284
Mass (Da):29,653
Last modified:October 11, 2005 - v2
Checksum:iF123D5695FB45A99
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti76K → N in AAB82744 (PubMed:8661014).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01901472A → V in CFEOM2. 1 PublicationCorresponds to variant dbSNP:rs104894269EnsemblClinVar.1
Natural variantiVAR_019016256P → Q May be involved in congenital central hypoventilation syndrome. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

Similar proteinsi

Entry informationi

Entry nameiPHX2A_HUMAN
AccessioniPrimary (citable) accession number: O14813
Secondary accession number(s): A8K3N0, Q8IVZ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 11, 2005
Last modified: May 23, 2018
This is version 170 of the entry and version 2 of the sequence. See 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

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