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| # | Reference Title | Reference Citation |
| 1. | Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. | Amiel J, etal., Nat Genet. 2003 Apr;33(4):459-61. Epub 2003 Mar 17. |
| 2. | Acute exercise-induced activation of Phox2b-expressing neurons of the retrotrapezoid nucleus in rats may involve the hypothalamus. | Barna BF, etal., Neuroscience. 2014 Jan 31;258:355-63. doi: 10.1016/j.neuroscience.2013.11.031. Epub 2013 Nov 26. |
| 3. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 4. | Phox2b expression in the aldosterone-sensitive HSD2 neurons of the NTS. | Geerling JC, etal., Brain Res. 2008 Aug 21;1226:82-8. doi: 10.1016/j.brainres.2008.05.072. Epub 2008 Jun 7. |
| 5. | Central nervous system distribution of the transcription factor Phox2b in the adult rat. | Kang BJ, etal., J Comp Neurol. 2007 Aug 10;503(5):627-41. |
| 6. | PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. | Lee P, etal., Chest. 2009 Feb;135(2):537-544. doi: 10.1378/chest.08-1664. |
| 7. | A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome. | Li D, etal., Mol Vis. 2008;14:2205-10. Epub 2008 Dec 5. |
| 8. | Identification of novel DNA methylation markers in colorectal cancer using MIRA-based microarrays. | Li H, etal., Oncol Rep. 2012 Jul;28(1):99-104. doi: 10.3892/or.2012.1779. Epub 2012 Apr 23. |
| 9. | A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation. | Low KJ, etal., Pediatr Pulmonol. 2014 Oct;49(10):E140-3. doi: 10.1002/ppul.23051. Epub 2014 May 5. |
| 10. | PHOX2B is a suppressor of neuroblastoma metastasis. | Naftali O, etal., Oncotarget. 2016 Mar 1;7(9):10627-37. doi: 10.18632/oncotarget.7056. |
| 11. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 12. | CO2-sensitive preinspiratory neurons of the parafacial respiratory group express Phox2b in the neonatal rat. | Onimaru H, etal., J Neurosci. 2008 Nov 26;28(48):12845-50. doi: 10.1523/JNEUROSCI.3625-08.2008. |
| 13. | Impaired ventilatory and thermoregulatory responses to hypoxic stress in newborn phox2b heterozygous knock-out mice. | Ramanantsoa N, etal., Front Physiol. 2011 Sep 23;2:61. doi: 10.3389/fphys.2011.00061. eCollection 2011. |
| 14. | GOA pipeline | RGD automated data pipeline |
| 15. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 16. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 17. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 18. | Molecular analysis of congenital central hypoventilation syndrome. | Sasaki A, etal., Hum Genet. 2003 Dec;114(1):22-6. Epub 2003 Oct 18. |
| PMID:9374403 | PMID:9758704 | PMID:10360575 | PMID:10395798 | PMID:10536054 | PMID:12885554 | PMID:15580626 | PMID:15733675 | PMID:16033425 | PMID:16144830 | PMID:16280598 | PMID:16319924 |
| PMID:16854219 | PMID:17021186 | PMID:17922007 | PMID:18094025 | PMID:18440993 | PMID:18506029 | PMID:19573018 | PMID:19793887 | PMID:19940179 | PMID:20217327 | PMID:20844141 | PMID:21068058 |
| PMID:22147266 | PMID:22521817 | PMID:24363384 | PMID:26147470 | PMID:28673717 | PMID:30448454 | PMID:34973291 | PMID:37350386 | PMID:38727716 |
| Phox2b (Rattus norvegicus - Norway rat) |
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| PHOX2B (Homo sapiens - human) |
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| Phox2b (Mus musculus - house mouse) |
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| Phox2b (Chinchilla lanigera - long-tailed chinchilla) |
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| PHOX2B (Pan paniscus - bonobo/pygmy chimpanzee) |
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| PHOX2B (Canis lupus familiaris - dog) |
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| Phox2b (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| PHOX2B (Sus scrofa - pig) |
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| PHOX2B (Chlorocebus sabaeus - green monkey) |
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| Phox2b (Heterocephalus glaber - naked mole-rat) |
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| Phox2b (Rattus rattus - black rat) |
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.
Variants in Phox2b
47 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| MARC_17835-17836:1025010330:1 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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nervous system
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renal system
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reproductive system
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respiratory system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 9 | 3 | 34 | 67 | 29 | 17 | 7 | 6 | 7 | 2 | 87 | 58 | 51 | 12 | 36 | 10 |
| RefSeq Transcripts | NM_001427246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_008765520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063273433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AB197139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CH473981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000084095 ⟹ ENSRNOP00000075383 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000091449 ⟹ ENSRNOP00000070623 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000130067 ⟹ ENSRNOP00000105298 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001427246 ⟹ NP_001414175 | ||||||||
| RefSeq Status: | VALIDATED | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063273433 ⟹ XP_063129503 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001414175 | (Get FASTA) | NCBI Sequence Viewer |
| XP_063129503 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | BAD83365 | (Get FASTA) | NCBI Sequence Viewer |
| EDL90031 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000105298 | ||
| ENSRNOP00000105298.1 |
| Ensembl Acc Id: | ENSRNOP00000070623 ⟸ ENSRNOT00000091449 |
| Ensembl Acc Id: | ENSRNOP00000075383 ⟸ ENSRNOT00000084095 |
| RefSeq Acc Id: | NP_001414175 ⟸ NM_001427246 |
| - UniProtKB: | A0A0G2JYE6 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063129503 ⟸ XM_063273433 |
| - Peptide Label: | isoform X1 |
| Ensembl Acc Id: | ENSRNOP00000105298 ⟸ ENSRNOT00000130067 |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-A0A0G2JYE6-F1-model_v2 | AlphaFold | A0A0G2JYE6 | 1-307 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1560582 | AgrOrtholog |
| BioCyc Gene | G2FUF-15773 | BioCyc |
| Ensembl Genes | ENSRNOG00000051929 | Ensembl |
| ENSRNOG00000089491 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
| Ensembl Transcript | ENSRNOT00000130067 | ENTREZGENE |
| ENSRNOT00000130067.1 | UniProtKB/TrEMBL | |
| NCBI Gene | 364152 | ENTREZGENE |
| PhenoGen | Phox2b | PhenoGen |
| RatGTEx | ENSRNOG00000051929 | RatGTEx |
| ENSRNOG00000089491 | RatGTEx | |
| UniProt | A0A0G2JYE6 | ENTREZGENE |
| A0ABK0L604_RAT | UniProtKB/TrEMBL | |
| Q5NSW4_RAT | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-04-30 | Phox2b | paired-like homeobox 2b | Phox2b_predicted | paired-like homeobox 2b (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2006-03-07 | Phox2b_predicted | paired-like homeobox 2b (predicted) | Phox2b | paired-like homeobox 2b | Symbol and Name status set to approved | 1299863 | APPROVED |
| 2006-02-09 | Phox2b | paired-like homeobox 2b | Symbol and Name status set to provisional | 70820 | PROVISIONAL |