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HUMAN:PHX2B
Contents
Species (Taxon ID) | Homo sapiens (Human). (9606) | |
Gene Name(s) | PHOX2B (synonyms: PMX2B) | |
Protein Name(s) | Paired mesoderm homeobox protein 2B
Neuroblastoma Phox NBPhox PHOX2B homeodomain protein Paired-like homeobox 2B | |
External Links | ||
UniProt | Q99453 | |
EMBL | D82344 AF117979 AB015671 BC017199 | |
CCDS | CCDS3463.1 | |
PIR | JC5273 | |
RefSeq | NP_003915.2 | |
UniGene | Hs.87202 | |
ProteinModelPortal | Q99453 | |
SMR | Q99453 | |
BioGrid | 114443 | |
STRING | 9606.ENSP00000226382 | |
PhosphoSite | Q99453 | |
DMDM | 116242712 | |
MaxQB | Q99453 | |
PaxDb | Q99453 | |
PRIDE | Q99453 | |
Ensembl | ENST00000226382 | |
GeneID | 8929 | |
KEGG | hsa:8929 | |
UCSC | uc003gwf.4 | |
CTD | 8929 | |
GeneCards | GC04M041746 | |
GeneReviews | PHOX2B | |
H-InvDB | HIX0120072 | |
HGNC | HGNC:9143 | |
MIM | 209880 603851 613013 | |
neXtProt | NX_Q99453 | |
Orphanet | 99803 635 661 | |
PharmGKB | PA33467 | |
eggNOG | NOG301263 | |
GeneTree | ENSGT00760000118958 | |
HOGENOM | HOG000013060 | |
HOVERGEN | HBG094678 | |
InParanoid | Q99453 | |
KO | K09330 | |
OMA | LVKTSMF | |
OrthoDB | EOG7C2R1F | |
PhylomeDB | Q99453 | |
TreeFam | TF351612 | |
SignaLink | Q99453 | |
GeneWiki | PHOX2B | |
GenomeRNAi | 8929 | |
NextBio | 33574 | |
PRO | PR:Q99453 | |
Proteomes | UP000005640 | |
Bgee | Q99453 | |
CleanEx | HS_PHOX2B | |
Genevestigator | Q99453 | |
GO | GO:0000790 GO:0000978 GO:0000977 GO:0048483 GO:0003360 GO:0021533 GO:0071773 GO:0071542 GO:0048894 GO:0048484 GO:0010001 GO:0021934 GO:0048839 GO:0021723 GO:0071157 GO:0008285 GO:0045665 GO:1901166 GO:0001764 GO:0003358 GO:0003357 GO:0048486 GO:0010971 GO:0045666 GO:0045944 GO:0010468 GO:0002087 GO:0060541 GO:0061452 GO:0035914 GO:0061549 GO:0048485 GO:0006351 | |
Gene3D | 1.10.10.60 | |
InterPro | IPR017970 IPR001356 IPR009057 | |
Pfam | PF00046 | |
SMART | SM00389 | |
SUPFAM | SSF46689 | |
PROSITE | PS00027 PS50071 |
Annotations
Qualifier | GO ID | GO term name | Reference | ECO ID | ECO term name | with/from | Aspect | Extension | Notes | Status |
---|---|---|---|---|---|---|---|---|---|---|
enables |
GO:0000981 |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ECO:0000303 |
author statement without traceable support used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0000981 |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ECO:0000255 |
match to sequence model evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0120162 |
positive regulation of cold-induced thermogenesis |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0000981 |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ECO:0005556 |
multiple sequence alignment evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0001228 |
DNA-binding transcription activator activity, RNA polymerase II-specific |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
occurs_at:(SO:0001952) |
Seeded From UniProt |
complete | ||
involved_in |
GO:1901166 |
neural crest cell migration involved in autonomic nervous system development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071773 |
cellular response to BMP stimulus |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071542 |
dopaminergic neuron differentiation |
ECO:0000305 |
curator inference used in manual assertion |
GO:0045944 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0071542 |
dopaminergic neuron differentiation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0061452 |
retrotrapezoid nucleus neuron differentiation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0060541 |
respiratory system development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048894 |
efferent axon development in a lateral line nerve |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048839 |
inner ear development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048486 |
parasympathetic nervous system development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048485 |
sympathetic nervous system development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048484 |
enteric nervous system development |
ECO:0000270 |
expression pattern evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048483 |
autonomic nervous system development |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0045944 |
positive regulation of transcription by RNA polymerase II |
ECO:0000315 |
mutant phenotype evidence used in manual assertion |
P |
has_regulation_target:(UniProtKB:P23975)|has_regulation_target:(UniProtKB:P09172) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0045944 |
positive regulation of transcription by RNA polymerase II |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
has_regulation_target:(UniProtKB:Q99453) |
Seeded From UniProt |
complete | ||
involved_in |
GO:0045944 |
positive regulation of transcription by RNA polymerase II |
ECO:0000314 |
direct assay evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0021934 |
hindbrain tangential cell migration |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0021723 |
medullary reticular formation development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0021533 |
cell differentiation in hindbrain |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0010001 |
glial cell differentiation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0003360 |
brainstem development |
ECO:0000270 |
expression pattern evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0003357 |
noradrenergic neuron differentiation |
ECO:0000305 |
curator inference used in manual assertion |
GO:0045944 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0003357 |
noradrenergic neuron differentiation |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0002087 |
regulation of respiratory gaseous exchange by neurological system process |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0001764 |
neuron migration |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0000978 |
RNA polymerase II proximal promoter sequence-specific DNA binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
enables |
GO:0000977 |
RNA polymerase II regulatory region sequence-specific DNA binding |
ECO:0000314 |
direct assay evidence used in manual assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0000790 |
nuclear chromatin |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:0071157 |
negative regulation of cell cycle arrest |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0061549 |
sympathetic ganglion development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0010971 |
positive regulation of G2/M transition of mitotic cell cycle |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0010468 |
regulation of gene expression |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0003358 |
noradrenergic neuron development |
ECO:0000250 |
sequence similarity evidence used in manual assertion |
P |
Seeded From UniProt |
complete | |||
involved_in |
GO:0048484 |
enteric nervous system development |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:1100882 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048483 |
autonomic nervous system development |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:106633 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0007399 |
nervous system development |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
MGI:MGI:106633 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005634 |
nucleus |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0011701 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0000981 |
DNA-binding transcription factor activity, RNA polymerase II-specific |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0023489 |
F |
Seeded From UniProt |
complete | ||
enables |
GO:0000977 |
RNA polymerase II regulatory region sequence-specific DNA binding |
ECO:0000318 |
biological aspect of ancestor evidence used in manual assertion |
FB:FBgn0011701 |
F |
Seeded From UniProt |
complete | ||
part_of |
GO:0005654 |
nucleoplasm |
ECO:0000314 |
direct assay evidence used in manual assertion |
C |
Seeded From UniProt |
complete | |||
involved_in |
GO:1901166 |
neural crest cell migration involved in autonomic nervous system development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0120162 |
positive regulation of cold-induced thermogenesis |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0071773 |
cellular response to BMP stimulus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0071542 |
dopaminergic neuron differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0061549 |
sympathetic ganglion development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0061452 |
retrotrapezoid nucleus neuron differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0060541 |
respiratory system development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048894 |
efferent axon development in a lateral line nerve |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048839 |
inner ear development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048486 |
parasympathetic nervous system development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048485 |
sympathetic nervous system development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048484 |
enteric nervous system development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0048468 |
cell development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0045944 |
positive regulation of transcription by RNA polymerase II |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0045666 |
positive regulation of neuron differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0045665 |
negative regulation of neuron differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0035914 |
skeletal muscle cell differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0030182 |
neuron differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0021934 |
hindbrain tangential cell migration |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0021723 |
medullary reticular formation development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0021533 |
cell differentiation in hindbrain |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010468 |
regulation of gene expression |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0010001 |
glial cell differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0008285 |
negative regulation of cell population proliferation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005634 |
nucleus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
C |
Seeded From UniProt |
complete | ||
involved_in |
GO:0003358 |
noradrenergic neuron development |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0003357 |
noradrenergic neuron differentiation |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0002087 |
regulation of respiratory gaseous exchange by neurological system process |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
involved_in |
GO:0001764 |
neuron migration |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:O35690 |
P |
Seeded From UniProt |
complete | ||
part_of |
GO:0005634 |
nucleus |
ECO:0000265 |
sequence orthology evidence used in automatic assertion |
UniProtKB:A0A0G2JYE6 |
C |
Seeded From UniProt |
complete | ||
enables |
GO:0003677 |
DNA binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0006355 |
regulation of transcription, DNA-templated |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
enables |
GO:0043565 |
sequence-specific DNA binding |
ECO:0000256 |
match to sequence model evidence used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
part_of |
GO:0005634 |
nucleus |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
C |
Seeded From UniProt |
complete | |||
enables |
GO:0003677 |
DNA binding |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
F |
Seeded From UniProt |
complete | |||
involved_in |
GO:0007275 |
multicellular organism development |
ECO:0000322 |
imported manually asserted information used in automatic assertion |
P |
Seeded From UniProt |
complete | |||
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
- ↑ Ramanantsoa, N et al. (2011) Impaired ventilatory and thermoregulatory responses to hypoxic stress in newborn phox2b heterozygous knock-out mice. Front Physiol 2 61 PubMed GONUTS page
- ↑ 3.0 3.1 3.2 Cargnin, F et al. (2005) PHOX2B regulates its own expression by a transcriptional auto-regulatory mechanism. J. Biol. Chem. 280 37439-48 PubMed GONUTS page
- ↑ 4.0 4.1 4.2 Fan, Y et al. (2009) Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells. J. Neurochem. 110 1502-13 PubMed GONUTS page
- ↑ 5.0 5.1 5.2 Amiel, J et al. (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet. 33 459-61 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 Rychlik, JL et al. (2005) Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type. J. Mol. Neurosci. 27 281-92 PubMed GONUTS page
- ↑ 7.0 7.1 7.2 7.3 7.4 7.5 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
c
d
e
m
n
- GO:0008285 ! negative regulation of cell population proliferation
- GO:0045665 ! negative regulation of neuron differentiation
- GO:0071157 ! negative regulation of cell cycle arrest
- GO:0007399 ! nervous system development
- GO:1901166 ! neural crest cell migration involved in autonomic nervous system development
- GO:0030182 ! neuron differentiation
- GO:0001764 ! neuron migration
- GO:0003357 ! noradrenergic neuron differentiation
- GO:0003358 ! noradrenergic neuron development
- GO:0000790 ! nuclear chromatin
- GO:0005654 ! nucleoplasm
- GO:0005634 ! nucleus
p
- GO:0048486 ! parasympathetic nervous system development
- GO:0120162 ! positive regulation of cold-induced thermogenesis
- GO:0010971 ! positive regulation of G2/M transition of mitotic cell cycle
- GO:0045666 ! positive regulation of neuron differentiation
- GO:0045944 ! positive regulation of transcription by RNA polymerase II
- Primates
r
- GO:0010468 ! regulation of gene expression
- GO:0006355 ! regulation of DNA-templated transcription
- GO:0002087 ! regulation of respiratory gaseous exchange by nervous system process
- GO:0060541 ! respiratory system development
- GO:0061452 ! retrotrapezoid nucleus neuron differentiation
- GO:0000978 ! RNA polymerase II cis-regulatory region sequence-specific DNA binding
- GO:0000977 ! RNA polymerase II transcription regulatory region sequence-specific DNA binding
s