PHOX2B Gene

Aliases
for PHOX2B gene

(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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Previous GC identifers: GC04M042029 GC04M041596 GC04M041661 GC04M041587 GC04M041440 GC04M041068

Summaries
for PHOX2B gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
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 at NCBI GenBank:

NC_000004.11  NC_018915.2  NT_006238.12  

SwitchGear Promoter luciferase reporter plasmid: PHOX2B promoter sequence

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

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


GeneLoc information about chromosome 4         GeneLoc Exon Structure

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

Proteins
for PHOX2B gene

(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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for PHOX2B: NX_Q99453

Explore proteomics data for PHOX2B at MOPED

Post-translational modifications: 

PHOX2B Human Recombinant Protein Products:

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Domains /
Families
for PHOX2B gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: Q99453

Find genes that share domains with PHOX2B           About GenesLikeMe

Function
for PHOX2B gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 5 molecular function terms:    About this table

(inferred from 8 alleles) (MGI details for Phox2b)

genOway: Develop your customized and physiologically relevant rodent model for PHOX2B

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		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

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		Predesigned siRNA for gene silencing in human, mouse, rat PHOX2B

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for PHOX2B

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2B

Localization
for PHOX2B gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
nucleus	4
cytosol	2

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

Pathways & Interactions
for PHOX2B gene

(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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
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SuperPaths for PHOX2B About     See pathways by source

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	SuperPath	Contained pathways About
1	SIDS Susceptibility Pathways	SIDS Susceptibility Pathways
2	Neural Crest Differentiation	Neural Crest Differentiation

2 BioSystems Pathways for PHOX2B

	SIDS Susceptibility Pathways
	Neural Crest Differentiation

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

Drugs & Compounds
for PHOX2B gene

(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, Sets of similar genes according to GenesLikeMe)
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Transcripts
for PHOX2B gene

(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for PHOX2B gene

(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 GenesLikeMe, 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

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

Primer Products:		OriGene qPCR primer pairs and template standards for PHOX2B OriGene qSTAR qPCR primer pairs in human, mouse for PHOX2B
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2B

Orthologs
for PHOX2B gene

(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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Paralogs
for PHOX2B gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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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

Find genes that share paralogs with PHOX2B           About GenesLikeMe

Genomic Variants
for PHOX2B gene

(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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Selected SNPs for PHOX2B (see all 153)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
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	--	--	--	--
rs289397161,2,,4	C	pathogenic1	41639438(-)	AGGCGC/GGAGTC	2	R G	mis1 ese3		0	--	--	--	--
rs1048938561,2	C	other1	41638243(-)	TGGGGA/GCCCAG	2	D G	mis1		0	--	--	--	--
rs1048938551,2	C	other1	41639560(-)	GCGGCG/TCATCC	2	R L	mis1		0	--	--	--	--
rs1420001111,2		--	41635745(+)	CTTGCC/TGGATA	1	--	ds5001		0	--	--	--	--
rs76618541,2	C,F	--	41635756(+)	TCACTG/AGTCTT	1	--	ds5001		5		NA WA	244
rs1838606481,2		--	41635787(+)	TCCACA/GCTGTC	1	--	ds5001		0	--	--	--	--
rs1884254231,2		--	41635793(+)	CTGTCA/GTTTTA	1	--	ds5001		0	--	--	--	--
rs1457756141,2	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

Disorders / Diseases
for PHOX2B gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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

15 diseases for PHOX2B:    
About MalaCards

5 Novoseek inferred disease relationships for PHOX2B gene    About this table

Publications
for PHOX2B gene

(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

1. 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)
2. 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)
3. 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)
4. 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)
5. 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)
6. 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)
7. 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)
8. 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)
9. 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)
10. Molecular analysis of congenital central hypoventilation syndrome. (PubMed id 14566559)^{1, 2, 9} Sasaki A.... Hayasaka K. (Hum. Genet. 2003)

External Searches for PHOX2B gene

Genome Databases showing PHOX2B gene

Other Databases showing PHOX2B gene

Specialized Databases showing PHOX2B gene

Products
for PHOX2B gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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