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Protein

Paired mesoderm homeobox protein 2B

Gene

PHOX2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi98 – 157HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ99453
SIGNORiQ99453

Names & Taxonomyi

Protein namesi
Recommended name:
Paired mesoderm homeobox protein 2B
Alternative name(s):
Neuroblastoma Phox
Short name:
NBPhox
PHOX2B homeodomain protein
Paired-like homeobox 2B
Gene namesi
Name:PHOX2B
Synonyms:PMX2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000109132.6
HGNCiHGNC:9143 PHOX2B
MIMi603851 gene
neXtProtiNX_Q99453

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

Congenital central hypoventilation syndrome (CCHS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.
See also OMIM:209880
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046900141R → Q in CCHS. 1 Publication1
Natural variantiVAR_046901143Q → R in CCHS. 1 Publication1
Natural variantiVAR_018257241A → AAAAAAAAAAA in CCHS. 1 Publication1
Neuroblastoma 2 (NBLST2)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.
See also OMIM:613013

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi8929
GeneReviewsiPHOX2B
MalaCardsiPHOX2B
MIMi209880 phenotype
613013 phenotype
OpenTargetsiENSG00000109132
Orphaneti99803 Haddad syndrome
2151 Hirschsprung disease-ganglioneuroblastoma syndrome
635 Neuroblastoma
661 Ondine syndrome
PharmGKBiPA33467

Polymorphism and mutation databases

BioMutaiPHOX2B
DMDMi116242712

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492621 – 314Paired mesoderm homeobox protein 2BAdd BLAST314

Proteomic databases

EPDiQ99453
MaxQBiQ99453
PaxDbiQ99453
PeptideAtlasiQ99453
PRIDEiQ99453
ProteomicsDBi78274

PTM databases

iPTMnetiQ99453
PhosphoSitePlusiQ99453

Expressioni

Tissue specificityi

Expressed in neuroblastoma, brain and adrenal gland.

Gene expression databases

BgeeiENSG00000109132 Expressed in 39 organ(s), highest expression level in intestine
CleanExiHS_PHOX2B
GenevisibleiQ99453 HS

Organism-specific databases

HPAiHPA074325
HPA074941

Interactioni

Subunit structurei

Interacts with TRIM11.By similarity

Protein-protein interaction databases

BioGridi114443, 1 interactor
STRINGi9606.ENSP00000226382

Structurei

3D structure databases

ProteinModelPortaliQ99453
SMRiQ99453
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi159 – 167Poly-Ala9
Compositional biasi212 – 217Poly-Gly6
Compositional biasi241 – 260Poly-AlaAdd BLAST20

Sequence similaritiesi

Belongs to the paired homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0484 Eukaryota
ENOG4111YNP LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000013060
HOVERGENiHBG094678
InParanoidiQ99453
KOiK09330
OMAiSQGWASA
OrthoDBiEOG091G0YX9
PhylomeDBiQ99453
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.

Q99453-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MYKMEYSYLN SSAYESCMAG MDTSSLASAY ADFSSCSQAS GFQYNPIRTT
60 70 80 90 100
FGATSGCPSL TPGSCSLGTL RDHQSSPYAA VPYKLFTDHG GLNEKRKQRR
110 120 130 140 150
IRTTFTSAQL KELERVFAET HYPDIYTREE LALKIDLTEA RVQVWFQNRR
160 170 180 190 200
AKFRKQERAA AAAAAAAKNG SSGKKSDSSR DDESKEAKST DPDSTGGPGP
210 220 230 240 250
NPNPTPSCGA NGGGGGGPSP AGAPGAAGPG GPGGEPGKGG AAAAAAAAAA
260 270 280 290 300
AAAAAAAAAA GGLAAAGGPG QGWAPGPGPI TSIPDSLGGP FASVLSSLQR
310
PNGAKAALVK SSMF
Length:314
Mass (Da):31,621
Last modified:October 17, 2006 - v2
Checksum:i40737F71948B595A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti292A → G in BAA11555 (PubMed:9039501).Curated1
Sequence conflicti292A → G in AAD26698 (PubMed:11034547).Curated1
Sequence conflicti292A → G in BAA82670 (PubMed:10395798).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_026969100R → L Confers susceptibility to neuroblastoma; found as germline mutation in a neuroblastoma family. 1 PublicationCorresponds to variant dbSNP:rs104893855EnsemblClinVar.1
Natural variantiVAR_026970141R → G1 PublicationCorresponds to variant dbSNP:rs28939716EnsemblClinVar.1
Natural variantiVAR_046900141R → Q in CCHS. 1 Publication1
Natural variantiVAR_046901143Q → R in CCHS. 1 Publication1
Natural variantiVAR_046902197G → D Confers susceptibility to neuroblastoma. 1 PublicationCorresponds to variant dbSNP:rs104893856EnsemblClinVar.1
Natural variantiVAR_018257241A → AAAAAAAAAAA in CCHS. 1 Publication1
Natural variantiVAR_018258254 – 258Missing 1 Publication5
Natural variantiVAR_018259255 – 259Missing 1 Publication5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D82344 mRNA Translation: BAA11555.1
AF117979 Genomic DNA Translation: AAD26698.1
AB015671 Genomic DNA Translation: BAA82670.1
BC017199 mRNA Translation: AAH17199.1
CCDSiCCDS3463.1
PIRiJC5273
RefSeqiNP_003915.2, NM_003924.3
UniGeneiHs.87202

Genome annotation databases

EnsembliENST00000226382; ENSP00000226382; ENSG00000109132
GeneIDi8929
KEGGihsa:8929
UCSCiuc003gwf.4 human

Keywords - Coding sequence diversityi

Triplet repeat expansion

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D82344 mRNA Translation: BAA11555.1
AF117979 Genomic DNA Translation: AAD26698.1
AB015671 Genomic DNA Translation: BAA82670.1
BC017199 mRNA Translation: AAH17199.1
CCDSiCCDS3463.1
PIRiJC5273
RefSeqiNP_003915.2, NM_003924.3
UniGeneiHs.87202

3D structure databases

ProteinModelPortaliQ99453
SMRiQ99453
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114443, 1 interactor
STRINGi9606.ENSP00000226382

PTM databases

iPTMnetiQ99453
PhosphoSitePlusiQ99453

Polymorphism and mutation databases

BioMutaiPHOX2B
DMDMi116242712

Proteomic databases

EPDiQ99453
MaxQBiQ99453
PaxDbiQ99453
PeptideAtlasiQ99453
PRIDEiQ99453
ProteomicsDBi78274

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000226382; ENSP00000226382; ENSG00000109132
GeneIDi8929
KEGGihsa:8929
UCSCiuc003gwf.4 human

Organism-specific databases

CTDi8929
DisGeNETi8929
EuPathDBiHostDB:ENSG00000109132.6
GeneCardsiPHOX2B
GeneReviewsiPHOX2B
H-InvDBiHIX0120072
HGNCiHGNC:9143 PHOX2B
HPAiHPA074325
HPA074941
MalaCardsiPHOX2B
MIMi209880 phenotype
603851 gene
613013 phenotype
neXtProtiNX_Q99453
OpenTargetsiENSG00000109132
Orphaneti99803 Haddad syndrome
2151 Hirschsprung disease-ganglioneuroblastoma syndrome
635 Neuroblastoma
661 Ondine syndrome
PharmGKBiPA33467
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0484 Eukaryota
ENOG4111YNP LUCA
GeneTreeiENSGT00900000140809
HOGENOMiHOG000013060
HOVERGENiHBG094678
InParanoidiQ99453
KOiK09330
OMAiSQGWASA
OrthoDBiEOG091G0YX9
PhylomeDBiQ99453
TreeFamiTF351612

Enzyme and pathway databases

SignaLinkiQ99453
SIGNORiQ99453

Miscellaneous databases

GeneWikiiPHOX2B
GenomeRNAii8929
PROiPR:Q99453
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109132 Expressed in 39 organ(s), highest expression level in intestine
CleanExiHS_PHOX2B
GenevisibleiQ99453 HS

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
ProtoNetiSearch...

Entry informationi

Entry nameiPHX2B_HUMAN
AccessioniPrimary (citable) accession number: Q99453
Secondary accession number(s): Q6PJD9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 171 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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