Basic gene annotations are collected from Uniprot
and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser
is available.
PHOX2A - paired like homeobox 2A
Function
May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype.
Uniprot BrowserEntrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
---|---|---|---|
401 | ENSG00000165462 | PHOX2A | O14813 |
Causal Flows
are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation
may causally activate or deactivate a downstream regulator
which then might up- down-regulates a regulon
that contains genes with similar expression profiles and binding sites.
Causal Mechanistic Flows with ENSG00000165462 as Regulator
ID | Mutation | Role | Regulator | Role | Regulon | # downstream regulons | # diffexp regulons | Drugs |
---|---|---|---|---|---|---|---|---|
CMF-10716 | ITIH5L | down-regulates | PHOX2A | represses | R-3225 | 5 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
CMF-13009 | GLT1D1 | up-regulates | PHOX2A | represses | R-3226 | 5 | 1 | Drugs (10) Regulator Drugs (0)Regulon Drugs (10)RIMEGEPANT SULFATE, TELCAGEPANT, ATOGEPANT, UBROGEPANT, ERENUMAB, RIMEGEPANT, BI-44370, MK3207, DAVALINTIDE, OLCEGEPANT |
CMF-13056 | AKD1 | down-regulates | PHOX2A | represses | R-3225 | 5 | 2 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
CMF-16341 | PRG4 | down-regulates | PHOX2A | represses | R-3225 | 5 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
CMF-19832 | OR6C75 | down-regulates | PHOX2A | represses | R-3225 | 5 | 1 | Drugs (0) Regulator Drugs (0)Regulon Drugs (0) |
CMF-25893 | PIK3CA | down-regulates | PHOX2A | represses | R-3226 | 5 | 1 | Drugs (10) Regulator Drugs (0)Regulon Drugs (10)RIMEGEPANT SULFATE, TELCAGEPANT, ATOGEPANT, UBROGEPANT, ERENUMAB, RIMEGEPANT, BI-44370, MK3207, DAVALINTIDE, OLCEGEPANT |