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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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Variants in Phox2b
3 total Variants ![]() |
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. |
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 | ENSRNOP00000070623.2 | ||
ENSRNOP00000105298 |
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, UniProtKB/TrEMBL |
ENSRNOG00000089491 | Ensembl, ENTREZGENE | |
Ensembl Transcript | ENSRNOT00000091449.2 | UniProtKB/TrEMBL |
ENSRNOT00000130067 | ENTREZGENE | |
Gene3D-CATH | Homeodomain-like | UniProtKB/TrEMBL |
InterPro | Homeobox_CS | UniProtKB/TrEMBL |
Homeodomain | UniProtKB/TrEMBL | |
Homeodomain-like | UniProtKB/TrEMBL | |
Paired_Homeobox_TFs | UniProtKB/TrEMBL | |
NCBI Gene | 364152 | ENTREZGENE |
PANTHER | HOMEOBOX PROTEIN ARISTALESS | UniProtKB/TrEMBL |
PAIRED MESODERM HOMEOBOX PROTEIN 2B | UniProtKB/TrEMBL | |
Pfam | Homeobox | UniProtKB/TrEMBL |
PhenoGen | Phox2b | PhenoGen |
PROSITE | HOMEOBOX_1 | UniProtKB/TrEMBL |
HOMEOBOX_2 | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000051929 | RatGTEx |
ENSRNOG00000089491 | RatGTEx | |
SMART | HOX | UniProtKB/TrEMBL |
Superfamily-SCOP | Homeodomain_like | UniProtKB/TrEMBL |
UniProt | A0A0G2JYE6 | ENTREZGENE, UniProtKB/TrEMBL |
Q5NSW4_RAT | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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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 |