PHOX2B
Summary: The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| paired like homeobox 2b | MIM:603851 | Ensembl:ENSG00000109132 | HGNC:HGNC:9143 | PA33467 | 4p13 |
GO terms in PHOX2B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding |
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| CC | IDA | GO:0000790 | nuclear chromatin |
| CC | IDA | GO:0005654 | nucleoplasm |
| BP | ISS | GO:0001764 | neuron migration |
| BP | ISS | GO:0002087 | regulation of respiratory gaseous exchange by neurological system process |
| BP | IC | GO:0003357 | noradrenergic neuron differentiation |
| BP | ISS | GO:0003357 | noradrenergic neuron differentiation |
| BP | ISS | GO:0003358 | noradrenergic neuron development |
| BP | IEP | GO:0003360 | brainstem development |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0008285 | negative regulation of cell proliferation |
| BP | ISS | GO:0010001 | glial cell differentiation |
| BP | ISS | GO:0010468 | regulation of gene expression |
| BP | ISS | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle |
| BP | ISS | GO:0021533 | cell differentiation in hindbrain |
| BP | ISS | GO:0021723 | medullary reticular formation development |
| BP | ISS | GO:0021934 | hindbrain tangential cell migration |
| BP | IEA | GO:0035914 | skeletal muscle cell differentiation |
| BP | IEA | GO:0045665 | negative regulation of neuron differentiation |
| BP | IEA | GO:0045666 | positive regulation of neuron differentiation |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0048483 | autonomic nervous system development |
| BP | IEP | GO:0048484 | enteric nervous system development |
| BP | ISS | GO:0048485 | sympathetic nervous system development |
| BP | ISS | GO:0048486 | parasympathetic nervous system development |
| BP | ISS | GO:0048839 | inner ear development |
| BP | ISS | GO:0048894 | efferent axon development in a lateral line nerve |
| BP | ISS | GO:0060541 | respiratory system development |
| BP | ISS | GO:0061452 | retrotrapezoid nucleus neuron differentiation |
| BP | ISS | GO:0061549 | sympathetic ganglion development |
| BP | ISS | GO:0071157 | negative regulation of cell cycle arrest |
| BP | IC | GO:0071542 | dopaminergic neuron differentiation |
| BP | ISS | GO:0071542 | dopaminergic neuron differentiation |
| BP | ISS | GO:0071773 | cellular response to BMP stimulus |
| BP | ISS | GO:1901166 | neural crest cell migration involved in autonomic nervous system development |
Gene expression in normal tissue: PHOX2B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PHOX2B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2064 | Neural Crest Differentiation |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD782 | DC-45-A2 | 3 |
| iGMDRD6 | AM-580 | 6 |
| iGMDRD267 | Oligomycin A | 3 |
| iGMDRD226 | ML006 | 3 |
| iGMDRD505 | Pevonedistat | 3 |
| iGMDRD886 | Compound 1541A | 1 |
| iGMDRD300 | Tozasertib | 3 |
| iGMDRD82 | Quiflapon | 3 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD871 | BRD6368 | 3 |
| iGMDRD367 | Ro 28-1675 | 3 |
| iGMDRD780 | PP-30 | 3 |
| iGMDRD562 | Navitoclax | 3 |
| iGMDRD398 | Sepantronium | 3 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD427 | ABT737 | 3 |
| iGMDRD670 | ML 210 | 3 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD211 | (1S,3R)-RSL3 | 3 |
| iGMDRD901 | ELCPK | 1 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD85 | Ursolic acid | 3 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD193 | Fqi1 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PHOX2B
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