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PHOX2B Gene

protein-coding GIFtS: 57
GCID: GC04M041746

Paired-Like Homeobox 2b

(Previous name: paired mesoderm homeobox 2b)
(Previous symbol: PMX2B)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Paired-Like Homeobox 2b¹ ² ³		PHOX2B Homeodomain Protein² ³
PMX2B¹ ² ³ ⁵		NBLST2² ⁵
Paired Mesoderm Homeobox 2b¹ ²		Neuroblastoma Paired-Type Homeobox Protein²
Neuroblastoma Phox² ³		Paired Mesoderm Homeobox Protein 2B²
NBPhox² ³		NBPHOX⁵

External Ids:	HGNC: 9143¹	Entrez Gene: 8929²	Ensembl: ENSG00000109132⁷	OMIM: 603851⁵	UniProtKB: Q99453³

Export aliases for PHOX2B gene to outside databases

Previous GC identifers: GC04M042029 GC04M041596 GC04M041661 GC04M041587 GC04M041440 GC04M041068

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. (provided by RefSeq, Jul

2008)

GeneCards Summary for PHOX2B Gene:

PHOX2B (paired-like homeobox 2b) is a protein-coding gene. Diseases associated with PHOX2B include phox2b-related neuroblastoma, susceptibility, and adrenal neuroblastoma. GO annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ALX1.

UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453

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 Wiki entry for PHOX2B Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000004.12 NC_018915.2 NT_006238.12

Regulatory elements:

Regulatory transcription factor binding sites in the PHOX2B gene promoter:
E2F-4 E2F-3a E2F-5 CUTL1 E2F-2 SRY E2F E2F-1 SEF-1 (1)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PHOX2B promoter sequence

Search Chromatin IP Primers for PHOX2B

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHOX2B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p12 Ensembl cytogenetic band: 4p13 HGNC cytogenetic band: 4p13

PHOX2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHOX2B gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M041746: view genomic region (about GC identifiers)

Start:	41,746,099 bp from pter	End:	41,750,987 bp from pter
Size:	4,889 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453 (See protein sequence)

Recommended Name: Paired mesoderm homeobox protein 2B

Size: 314 amino acids; 31621 Da

Subunit: Interacts with TRIM11 (By similarity)

Secondary accessions: Q6PJD9

Explore the universe of human proteins at neXtProt for PHOX2B: NX_Q99453

Explore proteomics data for PHOX2B at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See PHOX2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_003915.2

ENSEMBL proteins:

ENSP00000226382 ENSP00000426733

PHOX2B Human Recombinant Protein Products:

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	Cloud-Clone Corp. Proteins for PHOX2B

PHOX2B Antibody Products:

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	Abcam antibodies for PHOX2B
	Cloud-Clone Corp. Antibodies for PHOX2B
	ThermoFisher Antibodies for PHOX2B
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PHOX2B Assay Products:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PHOX2B
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for PHOX2B Cloud-Clone Corp. CLIAs for PHOX2B

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

PRD: Homeoboxes / PRD class

3 InterPro protein domains:

IPR017970 Homeobox_CS

IPR001356 Homeobox_dom

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q99453

ProtoNet protein and cluster: Q99453

UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453

Similarity: Belongs to the paired homeobox family

Similarity: Contains 1 homeobox DNA-binding domain

PHOX2B for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PHX2B_HUMAN, Q99453

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): 5 molecular function terms: About this table

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:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	--	--

PHOX2B for ontologies About GeneDecksing

Phenotypes:
11 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Phox2b):

behavior/neurological	cardiovascular system	cellular	embryogenesis	growth/size/body
homeostasis/metabolism	mortality/aging	nervous system	normal	respiratory system
vision/eye

PHOX2B for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHOX2B

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PHOX2B

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHOX2B

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PHOX2B

miRNA Products:		Block miRNA regulation of human, mouse, rat PHOX2B using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate PHOX2B (see all 66):
		hsa-miR-146a hsa-miR-4272 hsa-miR-502-3p hsa-miR-3622b-3p hsa-miR-3150b-3p hsa-miR-3148 hsa-miR-2113 hsa-miR-4324

		SwitchGear 3'UTR luciferase reporter plasmid: PHOX2B 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PHOX2B
		Predesigned siRNA for gene silencing in human, mouse, rat PHOX2B

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PHOX2B

Clone Products:		OriGene clones in human, mouse for PHOX2B (see all 5) OriGene ORF clones in mouse, rat for PHOX2B OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PHOX2B (NM_003924)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHOX2B
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHOX2B

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PHOX2B
		Browse ESI BIO Cell Lines and PureStem Progenitors for PHOX2B

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2B

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

PHX2B_HUMAN, Q99453: Nucleus (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	4
cytosol	2

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000790	nuclear chromatin	IDA	16280598
GO:0005634	nucleus	--	--

PHOX2B for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PHOX2B About

See pathways by source

SuperPath

Contained pathways About

Transcription factors in neurogenesis

Transcription factors in neurogenesis

SIDS Susceptibility Pathways

SIDS Susceptibility Pathways

Neural Crest Differentiation

Neural Crest Differentiation

2 BioSystems Pathways for PHOX2B

	SIDS Susceptibility Pathways
	Neural Crest Differentiation

Pathway & Disease-focused RT² Profiler PCR Array including PHOX2B:

Homeobox (HOX) Genes in human mouse rat

Interactions:

GeneGlobe Interaction Network for PHOX2B

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for PHOX2B (ENSP00000226382⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818
NADK	ENSP00000341679⁴	STRING: ENSP00000341679
SCFD1	ENSP00000390783⁴	STRING: ENSP00000390783
MPP7	ENSP00000337907⁴	STRING: ENSP00000337907

About this table

Gene Ontology (GO): Selected biological process terms (see all 33): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001764	neuron migration	ISS	--
GO:0002087	regulation of respiratory gaseous exchange by neurological system process	ISS	--
GO:0003357	noradrenergic neuron differentiation	ISS	--
GO:0003358	noradrenergic neuron development	ISS	--
GO:0003360	brainstem development	IEP	12640453

PHOX2B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PHOX2B (PHX2B)

1 HMDB Compound for PHOX2B About this table

Compound	Synonyms	CAS #	PubMed Ids
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--

5 Novoseek inferred chemical compound relationships for PHOX2B gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alanine	62.7	37	17045833 (5), 17300129 (3), 19191321 (2), 14566559 (2) (see all 14)
dopamine	21.2	5	16249188 (1), 16280598 (1), 16021468 (1), 18572378 (1)
tyrosine	8.07	6	10230790 (1), 16021468 (1), 10736201 (1), 11861481 (1)
norepinephrine	7.54	2	16280598 (1), 15516980 (1)
glutamine	0	1	16021468 (1)

PHOX2B for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for PHOX2B gene:

NM_003924.3

Unigene Cluster for PHOX2B:

Paired-like homeobox 2b

Hs.87202 [show with all ESTs]

Unigene Representative Sequence: NM_003924

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000226382(uc003gwf.4) ENST00000510424

miRNA Products:		Block miRNA regulation of human, mouse, rat PHOX2B using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate PHOX2B (see all 66):
		hsa-miR-146a hsa-miR-4272 hsa-miR-502-3p hsa-miR-3622b-3p hsa-miR-3150b-3p hsa-miR-3148 hsa-miR-2113 hsa-miR-4324

		SwitchGear 3'UTR luciferase reporter plasmid: PHOX2B 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for PHOX2B
		Predesigned siRNA for gene silencing in human, mouse, rat PHOX2B

Clone Products:		OriGene clones in human, mouse for PHOX2B (see all 5) OriGene ORF clones in mouse, rat for PHOX2B OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: PHOX2B (NM_003924)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHOX2B
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHOX2B

Primer Products:		OriGene qPCR primer pairs and template standards for PHOX2B OriGene qSTAR qPCR primer pairs in human, mouse for PHOX2B
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PHOX2B
		QuantiTect SYBR Green Assays in human, mouse, rat PHOX2B
		QuantiFast Probe-based Assays in human, mouse, rat PHOX2B

Additional mRNA sequence:

AK311082.1 BC017199.2 D82344.1

1 DOTS entry:

DT.40117788

18 AceView cDNA sequences:

BX348259 BC017199 CR592141 CR603200 CR615256 BX324379 AI266171 AL529004

BX282258 BQ069075 BX394111 D82344 AL519054 NM_003924 BX334182 BX324378

BE314442 BE312054

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PHOX2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGCTTATAGT

About this image

PHOX2B expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 7) fully expand


Neural Tube (Nervous System) fully expand to see all 3 entries
Metencephalon

Gut Tube (Gastrointestinal Tract)
Midgut

NULL (Uncategorized)
Neural rosettes

Kidney (Urinary System)
Metanephric Mesenchyme Cells Metanephric Mesenchyme

Skeletal Muscle (Muscoskeletal System)
Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip

PHOX2B Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PHOX2B Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.87202

UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453

Tissue specificity: Expressed in neuroblastoma, brain and adrenal gland

Pathway & Disease-focused RT² Profiler PCR Array including PHOX2B:

Homeobox (HOX) Genes in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for PHOX2B OriGene qSTAR qPCR primer pairs in human, mouse for PHOX2B
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PHOX2B
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		QuantiFast Probe-based Assays in human, mouse, rat PHOX2B

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2B

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for PHOX2B gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Phox2b^{1 , 5}	paired-like homeobox 2b^{1, 5}	91.3(n)¹ 100(a)¹		5 (35.95 cM)⁵ 18935¹ NM_008888.3¹ NP_032914.1¹ 67094397⁵
chicken (Gallus gallus)	Aves	PHOX2B¹	paired-like homeobox 2b	89.07(n) 97.31(a)		395548 XM_001234150.3 XP_001234151.2
lizard (Anolis carolinensis)	Reptilia	PHOX2B⁶	paired-like homeobox 2b	94(a)	1 ↔ 1	5(100920164-100920370)
African clawed frog (Xenopus laevis)	Amphibia	Xl.32231²	Xenopus laevis transcribed sequence with strong similarity more	80.77(n)		CA987053.1
zebrafish (Danio rerio)	Actinopterygii	phox2bb¹	paired-like homeobox 2bb	81.42(n) 94.79(a)		544654 NM_001014818.1 NP_001014818.1
fruit fly (Drosophila melanogaster)	Insecta	PHDP⁶	Putative homeodomain protein	32(a)	1 → many	2R(19770708-19771835)
worm (Caenorhabditis elegans)	Secernentea	ceh-17⁶	Protein CEH-17 (ceh-17) mRNA, complete cds	32(a)	1 → many	I(4568962-4570027) WBGene00000440

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PHOX2B gene

ALX1² ARX² RAX² DRGX² SHOX2² PRRX1² PHOX2A² ALX4²

ISX² RAX2² ALX3² SHOX² OTP² PRRX2²

13 SIMAP similar genes for PHOX2B using alignment to 2 protein entries: PHX2B_HUMAN (see all proteins):

SHOX2 PITX2 PITX1 PHOX2A MNX1 NKX2-5

OTX2 PRRX1 DUX2 HOXB1 PRRX2 DRGX

RAX2

PHOX2B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_046900⁴		Congenital central hypoventilation syndrome (CCHS)⁴	--	see VAR_046900	2	R Q	mis⁴		0	--	--	--	--
VAR_046901⁴		Congenital central hypoventilation syndrome (CCHS)⁴	--	see VAR_046901	2	Q R	mis⁴		0	--	--	--	--
rs28939716^1,2,,4	C	pathogenic¹	41639438(-)	`AGGCGC/GGAGTC`	2	R G	mis¹ ese³		0	--	--	--	--
rs104893856^1,2	C	other¹	41638243(-)	`TGGGGA/GCCCAG`	2	D G	mis¹		0	--	--	--	--
rs104893855^1,2	C	other¹	41639560(-)	`GCGGCG/TCATCC`	2	R L	mis¹		0	--	--	--	--
rs142000111^1,2		--	41635745(+)	`CTTGCC/TGGATA`	1	--	ds500¹		0	--	--	--	--
rs7661854^1,2	C,F	--	41635756(+)	`TCACTG/AGTCTT`	1	--	ds500¹		5		NA WA	244
rs183860648^1,2		--	41635787(+)	`TCCACA/GCTGTC`	1	--	ds500¹		0	--	--	--	--
rs188425423^1,2		--	41635793(+)	`CTGTCA/GTTTTA`	1	--	ds500¹		0	--	--	--	--
rs145775614^1,2	C	--	41635844(+)	`GCCACG/TTAGTC`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PHOX2B (41746099 - 41750987 bp)

Structural Variations
Database of Genomic Variants (DGV) 1 variation for PHOX2B: About this table

Variant ID	Type	Subtype	PubMed ID
esv32898	CNV	Gain	17666407

Human Gene Mutation Database (HGMD): PHOX2B

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PHOX2B

DNA2.0 Custom Variant and Variant Library Synthesis for PHOX2B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603851
OMIM disorders: 209880 613013
UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453

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. 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.

Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

Selected diseases for PHOX2B (see all 28):
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hirschsprung disease ganglioneuroblastoma neuroblastoma, susceptibility central hypoventilation syndrome exotropia

congenital central hypoventilation syndrome autonomic dysfunction neuroblastoma learning disability

cor pulmonale sudden infant death syndrome hirschsprung's disease sleep apnea

hyperinsulinism type 1 diabetes mellitus crohn's disease type 1 diabetes

3 diseases from the University of Copenhagen DISEASES database for PHOX2B:

Hirschsprung's disease Adrenal neuroblastoma Neuroblastoma

PHOX2B for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

5 Novoseek inferred disease relationships for PHOX2B gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
central hypoventilation syndrome, congenital	98.3	40	16882781 (5), 17045833 (2), 18407552 (2), 18798833 (2) (see all 29)
hirschsprung disease	86.8	12	16249188 (1), 15949893 (1), 19735829 (1), 15930201 (1) (see all 11)
sudden infant death syndrome	37	1	15185974 (1)
atrophy	0	1	15150159 (1)
tumors	0	6	15657873 (2), 19212675 (1), 16888290 (1), 20208042 (1)

GeneTests: PHOX2B
GeneReviews: PHOX2B
Genetic Association Database (GAD): PHOX2B
Human Genome Epidemiology (HuGE) Navigator: PHOX2B (18 documents)

Export disorders for PHOX2B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PHOX2B gene, integrated from 10 sources (see all 147):
(articles sorted by number of sources associating them with PHOX2B)

Utopia: connect your pdf to the dynamic
world of online information

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (PubMed id 15657873)^{1, 2, 4, 9} Trochet D.... Amiel J. (Am. J. Hum. Genet. 2005)
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (PubMed id 15024693)^{1, 2, 4, 9} Trochet D.... Amiel J. (Am. J. Hum. Genet. 2004)
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. (PubMed id 16691592)^{1, 2, 4} McConville C.... Rahman N. (Am. J. Med. Genet. A 2006)
Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation. (PubMed id 10395798)^{1, 2, 3} Yokoyama M.... Nakamura M. (Genomics 1999)
Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles. (PubMed id 9039501)^{1, 2, 3} Yokoyama M.... Matsubara K. (DNA Res. 1996)
Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China. (PubMed id 19735829)^{1, 4, 9} Liu C.P....Li J.C. (J. Pediatr. Surg. 2009)
Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease. (PubMed id 16021468)^{1, 4, 9} Ide M....Yoshikawa T. (Hum. Genet. 2005)
Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta- hydroxylase gene transcription. (PubMed id 11034547)^{1, 2, 9} Adachi M.... Lewis E.J. (DNA Cell Biol. 2000)
Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE. (PubMed id 17300129)^{1, 4, 9} Hung C.C....Hsu S.M. (Electrophoresis 2007)
Molecular analysis of congenital central hypoventilation syndrome. (PubMed id 14566559)^{1, 2, 9} Sasaki A.... Hayasaka K. (Hum. Genet. 2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8929	HGNC: 9143	AceView: PHOX2B	Ensembl:ENSG00000109132	euGenes: HUgn8929
ECgene: PHOX2B	H-InvDB: PHOX2B

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PHOX2B	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PHOX2B[genesymbol]

Intellectual Property for PHOX2B gene
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Patent Information for PHOX2B gene:
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