Gene table of PHOX2B : paired like homeobox 2b

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PHOX2B	OMIM link	Number of associated genes	genes
613013	NEUROBLASTOMA, SUSCEPTIBILITY TO, 2	ClinVar, OMIM	link to OMIM	1	PHOX2B
209880	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	ASCL1, GDNF, EDN3, BDNF, PHOX2B, RET

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Annotation of the gene PHOX2B

Associated genes in ENSEMBL

ENSG00000109132

Associated proteins - SwissProt Accession ID

Q99453

Associated PDB IDs

Cytogenetic Band

4p13

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
nucleic acid binding transcription factor activity	GO:0001071	2.65
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
regulatory region nucleic acid binding	GO:0001067	3.03
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
regulatory region DNA binding	GO:0000975	3.03
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
binding	GO:0005488	0.18