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HUMAN:PHX2B

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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

PMID:19274049[1]

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

PMID:19274049[1]

ECO:0000255

match to sequence model evidence used in manual assertion

InterPro:IPR001356
InterPro:IPR009057

F

Seeded From UniProt

complete

involved_in

GO:0120162

positive regulation of cold-induced thermogenesis

PMID:21977017[2]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

GO_REF:0000113

ECO:0005556

multiple sequence alignment evidence used in manual assertion

UniProtKB:Q8VIH1

F

Seeded From UniProt

complete

enables

GO:0001228

DNA-binding transcription activator activity, RNA polymerase II-specific

PMID:16144830[3]

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

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0071773

cellular response to BMP stimulus

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0071542

dopaminergic neuron differentiation

PMID:19573018[4]

ECO:0000305

curator inference used in manual assertion

GO:0045944

P

Seeded From UniProt

complete

involved_in

GO:0071542

dopaminergic neuron differentiation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0061452

retrotrapezoid nucleus neuron differentiation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0060541

respiratory system development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0048894

efferent axon development in a lateral line nerve

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0048839

inner ear development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0048486

parasympathetic nervous system development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0048485

sympathetic nervous system development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0048484

enteric nervous system development

PMID:12640453[5]

ECO:0000270

expression pattern evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0048483

autonomic nervous system development

PMID:12640453[5]

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

PMID:19573018[4]

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

PMID:16144830[3]

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

PMID:16280598[6]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0021934

hindbrain tangential cell migration

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0021723

medullary reticular formation development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0021533

cell differentiation in hindbrain

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0010001

glial cell differentiation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0003360

brainstem development

PMID:12640453[5]

ECO:0000270

expression pattern evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0003357

noradrenergic neuron differentiation

PMID:19573018[4]

ECO:0000305

curator inference used in manual assertion

GO:0045944

P

Seeded From UniProt

complete

involved_in

GO:0003357

noradrenergic neuron differentiation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0002087

regulation of respiratory gaseous exchange by neurological system process

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0001764

neuron migration

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

enables

GO:0000978

RNA polymerase II proximal promoter sequence-specific DNA binding

PMID:16144830[3]

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

PMID:16280598[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0000790

nuclear chromatin

PMID:16280598[6]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0071157

negative regulation of cell cycle arrest

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P11802

P

Seeded From UniProt

complete

involved_in

GO:0061549

sympathetic ganglion development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P11802

P

Seeded From UniProt

complete

involved_in

GO:0010468

regulation of gene expression

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0003358

noradrenergic neuron development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O35690

P

Seeded From UniProt

complete

involved_in

GO:0048484

enteric nervous system development

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1100882
PANTHER:PTN002388711
UniProtKB:Q99453
ZFIN:ZDB-GENE-050407-3

P

Seeded From UniProt

complete

involved_in

GO:0048483

autonomic nervous system development

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:106633
MGI:MGI:1100882
PANTHER:PTN002388711
UniProtKB:Q99453
ZFIN:ZDB-GENE-050407-3

P

Seeded From UniProt

complete

involved_in

GO:0007399

nervous system development

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:106633
MGI:MGI:1100882
PANTHER:PTN002388711
UniProtKB:Q99453
ZFIN:ZDB-GENE-000223-14
ZFIN:ZDB-GENE-050407-3

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0011701
FB:FBgn0023489
MGI:MGI:104621
MGI:MGI:106633
MGI:MGI:108359
MGI:MGI:1096388
MGI:MGI:1100882
MGI:MGI:1920864
PANTHER:PTN002518769
RGD:1560582
RGD:1562672
RGD:2273
UniProtKB:O14813
UniProtKB:Q15699
UniProtKB:Q8N693
UniProtKB:Q8NHV9
UniProtKB:Q99453
UniProtKB:Q9H161
WB:WBGene00000435
WB:WBGene00000440
WB:WBGene00006744
WB:WBGene00044330

C

Seeded From UniProt

complete

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0023489
MGI:MGI:108359
MGI:MGI:1918847
PANTHER:PTN002518769
UniProtKB:Q15699
UniProtKB:Q8N693
UniProtKB:Q96QS3
WB:WBGene00000440

F

Seeded From UniProt

complete

enables

GO:0000977

RNA polymerase II regulatory region sequence-specific DNA binding

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0011701
FB:FBgn0023489
MGI:MGI:108359
MGI:MGI:1097716
PANTHER:PTN002518769
UniProtKB:O14813
UniProtKB:Q15699
UniProtKB:Q8N693
UniProtKB:Q99453
WB:WBGene00044330

F

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

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

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0120162

positive regulation of cold-induced thermogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0071773

cellular response to BMP stimulus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0071542

dopaminergic neuron differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0061549

sympathetic ganglion development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0061452

retrotrapezoid nucleus neuron differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0060541

respiratory system development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0048894

efferent axon development in a lateral line nerve

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0048839

inner ear development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0048486

parasympathetic nervous system development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0048485

sympathetic nervous system development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0048484

enteric nervous system development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0048468

cell development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0045666

positive regulation of neuron differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0045665

negative regulation of neuron differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0035914

skeletal muscle cell differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0030182

neuron differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0021934

hindbrain tangential cell migration

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0021723

medullary reticular formation development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0021533

cell differentiation in hindbrain

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0010468

regulation of gene expression

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0010001

glial cell differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0008285

negative regulation of cell population proliferation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

C

Seeded From UniProt

complete

involved_in

GO:0003358

noradrenergic neuron development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0003357

noradrenergic neuron differentiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0002087

regulation of respiratory gaseous exchange by neurological system process

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

involved_in

GO:0001764

neuron migration

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:O35690
ensembl:ENSMUSP00000012664

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:A0A0G2JYE6
ensembl:ENSRNOP00000070623

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR001356
InterPro:IPR009057

F

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR017970

P

Seeded From UniProt

complete

enables

GO:0043565

sequence-specific DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR017970

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037
GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0371
UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

involved_in

GO:0007275

multicellular organism development

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0217

P

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 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
  2. 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. 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. 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. 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. 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. 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