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PHOX2B Gene

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wiki page Created: 2026-04-02T07:19:22 By: crosslink-migration Quality: 50% ✓ SciDEX ID: wiki-genes-phox2b
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gene2326 wordssynced 2026-04-02

PHOX2B Gene

Overview

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">PHOX2B Gene</th>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>PHOX2B</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Paired Homeobox 2B</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>4p13</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>9088</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000178363</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>Q75WG7</td>
</tr>
<tr>
<td class="label">Gene Family</td>
<td>Paired homeobox transcription factors</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>603851</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>Neuroblastoma, Congenital Central Hypoventilation Syndrome (CCHS), Hirschsprung disease, Parkinson's disease, Alzheimer's disease</td>
</tr>
<tr>
<td class="label">Disease</td>
<td>Mechanism</td>
</tr>
<tr>
<td class="label">Congenital central hypoventilation syndrome (CCHS)</td>
<td>PHOX2B polyalanine expansions</td>
</tr>
<tr>
<td class="label">Neuroblastoma</td>
<td>PHOX2B mutations, overexpression</td>
</tr>
<tr>
<td class="label">Hirschsprung disease</td>
<td>PHOX2B mutations</td>
</tr>
<tr>
<td class="label">Parkinson's disease</td>
<td>Degeneration of PHOX2B+ neurons</td>
</tr>
<tr>
<td class="label">Alzheimer's disease</td>
<td>Choliner

...
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Related Entities
PHOX2B
Metadataorigin_type: v1_polymorphic_backfill
sluggenes-phox2b
kg_node_idPHOX2B
entity_typegene
origin_typev1_polymorphic_backfill
source_tablewiki_pages
wiki_page_idwp-762923910047
__merged_from{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-phox2b'}
_schema_version1
📊 Evidence Profile
Evidence Balance
+0%
Certainty
25%
Debates
0
Incoming
5
Outgoing
18
0 supporting 0 contradicting 0 neutral
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