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PHOX2B Gene(Protein Coding)

Paired Like Homeobox 2b

GCID:
GC04M041746
GIFtS:
58
Genes Participants
UDN Logo

Aliases for PHOX2B Gene

Aliases for PHOX2B Gene

  • Paired Like Homeobox 2b 2 3 5
  • Paired Mesoderm Homeobox 2b 2 3
  • PHOX2B Homeodomain Protein 3 4
  • Paired-Like Homeobox 2B 3 4
  • Neuroblastoma Phox 3 4
  • NBPhox 3 4
  • PMX2B 3 4
  • Neuroblastoma Paired-Type Homeobox Protein 3
  • Paired Mesoderm Homeobox Protein 2B 3
  • NBLST2 3

External Ids for PHOX2B Gene

Previous HGNC Symbols for PHOX2B Gene

  • PMX2B

Previous GeneCards Identifiers for PHOX2B Gene

  • GC04M042029
  • GC04M041596
  • GC04M041661
  • GC04M041587
  • GC04M041440
  • GC04M041068

Summaries for PHOX2B Gene

Entrez Gene Summary for PHOX2B Gene

  • The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]

GeneCards Summary for PHOX2B Gene

PHOX2B (Paired Like Homeobox 2b) is a Protein Coding gene. Diseases associated with PHOX2B include Central Hypoventilation Syndrome, Congenital and Neuroblastoma 2. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Neural Crest Differentiation. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is PHOX2A.

UniProtKB/Swiss-Prot for PHOX2B Gene

  • 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.

Gene Wiki entry for PHOX2B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHOX2B Gene

Genomics for PHOX2B Gene

Products:

  1. Regulatory Element

Regulatory Elements for PHOX2B Gene

Enhancers for PHOX2B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G041873 0.6 FANTOM5 30.8 -125.1 -125111 0.4 RNF2 SUZ12 CBX2 REST SMARCA4 POLR2A CTBP2 EZH2 PHOX2B LOC105374421 LIMCH1 LOC105374425 ENSG00000249122 LINC00682 HMGB1P28
GH04G041878 0.6 FANTOM5 18.1 -130.1 -130074 0.3 RNF2 SUZ12 CBX2 CTBP2 REST EZH2 PHOX2B LINC00682 HMGB1P28
GH04G041709 0.9 ENCODE 11 +38.7 38707 1.8 PKNOX1 ATF1 INSM2 ZNF76 KLF17 FEZF1 BRCA1 ZNF2 ZNF366 ZSCAN5C LIMCH1 PHOX2B LOC105374425 ENSG00000249122 RNU1-49P OR5M14P LOC105374421
GH04G041884 1.2 FANTOM5 ENCODE 7.4 -135.6 -135606 1.0 PKNOX1 FOXA2 ATF1 RAD21 RARA KAT2B YY1 MIXL1 CEBPB REST PHOX2B LINC00682 ENSG00000249887
GH04G041857 1.5 FANTOM5 4.9 -108.5 -108463 0.4 ATF3 CEBPG RAD21 UCHL1 UCHL1-AS1 PHOX2B HMGB1P28 LINC00682
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHOX2B on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the PHOX2B gene promoter:

Genomic Location for PHOX2B Gene

Chromosome:
4
Start:
41,744,082 bp from pter
End:
41,748,970 bp from pter
Size:
4,889 bases
Orientation:
Minus strand

Genomic View for PHOX2B Gene

Genes around PHOX2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHOX2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHOX2B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PHOX2B Gene

Proteins for PHOX2B Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PHOX2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99453-PHX2B_HUMAN
    Recommended name:
    Paired mesoderm homeobox protein 2B
    Protein Accession:
    Q99453
    Secondary Accessions:
    • Q6PJD9

    Protein attributes for PHOX2B Gene

    Size:
    314 amino acids
    Molecular mass:
    31621 Da
    Quaternary structure:
    • Interacts with TRIM11.

neXtProt entry for PHOX2B Gene

Protein Expression for PHOX2B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PHOX2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHOX2B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PHOX2B

No data available for DME Specific Peptides for PHOX2B Gene

Domains & Families for PHOX2B Gene

Gene Families for PHOX2B Gene

HGNC:

Protein Domains for PHOX2B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PHOX2B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99453

UniProtKB/Swiss-Prot:

PHX2B_HUMAN :
  • Belongs to the paired homeobox family.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PHOX2B: view

Function for PHOX2B Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PHOX2B Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for PHOX2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 16280598
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 16144830
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 16144830
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with PHOX2B: view
genes like me logo Genes that share phenotypes with PHOX2B: view

Human Phenotype Ontology for PHOX2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PHOX2B Gene

MGI Knock Outs for PHOX2B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PHOX2B Gene

Localization for PHOX2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHOX2B Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHOX2B gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PHOX2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 16280598
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with PHOX2B: view

Pathways & Interactions for PHOX2B Gene

genes like me logo Genes that share pathways with PHOX2B: view

Pathways by source for PHOX2B Gene

SIGNOR curated interactions for PHOX2B Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PHOX2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA,ISS --
GO:0002087 regulation of respiratory gaseous exchange by neurological system process ISS,IEA --
GO:0003357 noradrenergic neuron differentiation IEA,ISS --
GO:0003358 noradrenergic neuron development ISS,IEA --
GO:0003360 brainstem development IEP 12640453
genes like me logo Genes that share ontologies with PHOX2B: view

Drugs & Compounds for PHOX2B Gene

Products:

  1. Drug

(6) Drugs for PHOX2B Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
genes like me logo Genes that share compounds with PHOX2B: view

Transcripts for PHOX2B Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PHOX2B Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PHOX2B Gene

Paired-like homeobox 2b:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PHOX2B Gene

No ASD Table

Relevant External Links for PHOX2B Gene

GeneLoc Exon Structure for
PHOX2B
ECgene alternative splicing isoforms for
PHOX2B

Expression for PHOX2B Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHOX2B Gene

mRNA expression in normal human tissues for PHOX2B Gene
mRNA expression by BioGPS for PHOX2B GenemRNA expression by GTEx for PHOX2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHOX2B Gene

This gene is overexpressed in Colon - Sigmoid (x20.5), Adrenal Gland (x8.9), Small Intestine - Terminal Ileum (x6.0), and Colon - Transverse (x5.8).

Protein differential expression in normal tissues from HIPED for PHOX2B Gene

This gene is overexpressed in Spleen (31.6), Esophagus (30.3), and Urinary Bladder (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHOX2B Gene



NURSA nuclear receptor signaling pathways regulating expression of PHOX2B Gene:

PHOX2B

SOURCE GeneReport for Unigene cluster for PHOX2B Gene:

Hs.87202

mRNA Expression by UniProt/SwissProt for PHOX2B Gene:

Q99453-PHX2B_HUMAN
Tissue specificity: Expressed in neuroblastoma, brain and adrenal gland.

Evidence on tissue expression from TISSUES for PHOX2B Gene

  • Nervous system(4.5)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PHOX2B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PHOX2B: view

Primer Products

No data available for Protein tissue co-expression partners for PHOX2B Gene

Orthologs for PHOX2B Gene

This gene was present in the common ancestor of animals.

Orthologs for PHOX2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PHOX2B 34 35
  • 99.36 (n)
cow
(Bos Taurus)
 Mammalia PHOX2B 35
  • 99 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia PHOX2B 35
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia PHOX2B 34 35
  • 92.89 (n)
mouse
(Mus musculus)
 Mammalia Phox2b 34 16 35
  • 91.3 (n)
chicken
(Gallus gallus)
 Aves PHOX2B 34 35
  • 89.07 (n)
lizard
(Anolis carolinensis)
 Reptilia PHOX2B 35
  • 94 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia phox2b 34
  • 82.69 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.32231 34
zebrafish
(Danio rerio)
 Actinopterygii phox2bb 34 35 35
  • 81.42 (n)
fruit fly
(Drosophila melanogaster)
 Insecta PHDP 35
  • 32 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea ceh-17 35
  • 32 (a)
 OneToMany
Species where no ortholog for PHOX2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PHOX2B Gene

ENSEMBL:
Gene Tree for PHOX2B (if available)
TreeFam:
Gene Tree for PHOX2B (if available)

Paralogs for PHOX2B Gene

Paralogs for PHOX2B Gene

(13) SIMAP similar genes for PHOX2B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with PHOX2B: view

Variants for PHOX2B Gene

Sequence variations from dbSNP and Humsavar for PHOX2B Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_046900 Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
VAR_046901 Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
rs28939716 Pathogenic 41,747,357(-) AGGCG(C/G)GAGTC upstream-variant-2KB, reference, missense
rs587776626 Pathogenic 41,746,134(+) AGCTG(-/G)GGGGT reference, frameshift-variant
rs114290493 Likely benign 41,745,646(+) GACGC(C/T)GTTTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PHOX2B Gene

Variant ID Type Subtype PubMed ID
esv32898 CNV gain 17666407

Variation tolerance for PHOX2B Gene

Residual Variation Intolerance Score: 34.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 17.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHOX2B Gene

Human Gene Mutation Database (HGMD)
PHOX2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHOX2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHOX2B Gene

Disorders for PHOX2B Gene

MalaCards: The human disease database

(17) MalaCards diseases for PHOX2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
central hypoventilation syndrome, congenital
  • central hypoventilation syndrome, congenital, with or without hirschsprung disease
neuroblastoma 2
  • neuroblastoma with hirschsprung disease
hirschsprung disease ganglioneuroblastoma
  • neuroblastoma with hirschsprung disease
phox2b-related neuroblastoma, susceptibility
neuroblastoma, susceptibility
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PHX2B_HUMAN
  • Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare 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. {ECO:0000269 PubMed:12640453, ECO:0000269 PubMed:14566559, ECO:0000269 PubMed:15657873}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Neuroblastoma 2 (NBLST2) [MIM:613013]: A 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. {ECO:0000305 PubMed:15024693}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for PHOX2B

Genetic Association Database (GAD)
PHOX2B
Human Genome Epidemiology (HuGE) Navigator
PHOX2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHOX2B
genes like me logo Genes that share disorders with PHOX2B: view

No data available for Genatlas for PHOX2B Gene

Publications for PHOX2B Gene

  1. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (PMID: 15657873) Trochet D. … Amiel J. (Am. J. Hum. Genet. 2005) 3 4 22 46 64
  2. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (PMID: 15024693) Trochet D. … Amiel J. (Am. J. Hum. Genet. 2004) 3 4 22 46 64
  3. Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China. (PMID: 19735829) Liu C.P. … Li J.C. (J. Pediatr. Surg. 2009) 3 22 46 64
  4. Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE. (PMID: 17300129) Hung C.C. … Hsu S.M. (Electrophoresis 2007) 3 22 46 64
  5. PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. (PMID: 16691592) McConville C. … Rahman N. (Am. J. Med. Genet. A 2006) 3 4 46 64

Products for PHOX2B Gene

Sources for PHOX2B Gene

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