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Protein

Paired mesoderm homeobox protein 2A

Gene

PHOX2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 – 14960HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
  • transcription factor activity, sequence-specific DNA binding Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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

HGNCiHGNC:691. PHOX2A.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

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

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721A → V in CFEOM2. 1 Publication
Corresponds to variant rs104894269 [ dbSNP | Ensembl ].
VAR_019014

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiPHOX2A.
MIMi602078. phenotype.
Orphaneti45358. Congenital fibrosis of extraocular muscles.
PharmGKBiPA28093.

Polymorphism and mutation databases

BioMutaiPHOX2A.

PTM / Processingi

Molecule processing

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

Proteomic databases

PaxDbiO14813.
PeptideAtlasiO14813.
PRIDEiO14813.

PTM databases

iPTMnetiO14813.
PhosphoSiteiO14813.

Expressioni

Gene expression databases

BgeeiENSG00000165462.
CleanExiHS_PHOX2A.
ExpressionAtlasiO14813. baseline and differential.
GenevisibleiO14813. HS.

Organism-specific databases

HPAiHPA065621.

Interactioni

Protein-protein interaction databases

BioGridi106894. 6 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

eggNOGiKOG0484. Eukaryota.
ENOG4111QRU. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000013060.
HOVERGENiHBG053590.
InParanoidiO14813.
KOiK09330.
OMAiHTPAVPY.
OrthoDBiEOG091G0YX9.
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

        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)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
Corresponds to variant rs104894269 [ dbSNP | Ensembl ].
VAR_019014
Natural varianti256 – 2561P → Q May be involved in congenital central hypoventilation syndrome. 1 Publication
VAR_019016

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

Cross-referencesi

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.

3D structure databases

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

Protein-protein interaction databases

BioGridi106894. 6 interactions.
STRINGi9606.ENSP00000298231.

PTM databases

iPTMnetiO14813.
PhosphoSiteiO14813.

Polymorphism and mutation databases

BioMutaiPHOX2A.

Proteomic databases

PaxDbiO14813.
PeptideAtlasiO14813.
PRIDEiO14813.

Protocols and materials databases

DNASUi401.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi401.
GeneCardsiPHOX2A.
GeneReviewsiPHOX2A.
HGNCiHGNC:691. PHOX2A.
HPAiHPA065621.
MalaCardsiPHOX2A.
MIMi602078. phenotype.
602753. gene.
neXtProtiNX_O14813.
Orphaneti45358. Congenital fibrosis of extraocular muscles.
PharmGKBiPA28093.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0484. Eukaryota.
ENOG4111QRU. LUCA.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000013060.
HOVERGENiHBG053590.
InParanoidiO14813.
KOiK09330.
OMAiHTPAVPY.
OrthoDBiEOG091G0YX9.
PhylomeDBiO14813.
TreeFamiTF351612.

Enzyme and pathway databases

SignaLinkiO14813.
SIGNORiO14813.

Miscellaneous databases

GeneWikiiPHOX2A.
GenomeRNAii401.
PROiO14813.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165462.
CleanExiHS_PHOX2A.
ExpressionAtlasiO14813. baseline and differential.
GenevisibleiO14813. HS.

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]
ProtoNetiSearch...

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: September 7, 2016
This is version 157 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.