Gene table of PITX2 : paired like homeodomain 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with PITX2OMIM linkNumber of associated genesgenes
180500AXENFELD-RIEGER SYNDROME, TYPE 1ClinVar, OMIM, HUMSAVAR link to OMIM 2PRDM5, PITX2
180550RING DERMOID OF CORNEAClinVar, OMIM, HUMSAVAR link to OMIM 1PITX2
137600IRIDOGONIODYSGENESIS, TYPE 2ClinVar, OMIM, HUMSAVAR link to OMIM 1PITX2
604229PETERS ANOMALYOMIM link to OMIM 4FOXC1, PITX2, CYP1B1, PAX6

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Annotation of the gene PITX2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
TGF-beta signaling pathwayhsa043506.41
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
activating transcription factor bindingGO:00336135.68
RNA polymerase II regulatory region DNA bindingGO:00010123.36
core promoter proximal region DNA bindingGO:00011593.82
chromatin DNA bindingGO:00314905.37
transcription factor activity, RNA polymerase II transcription factor bindingGO:00010764.84
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010774.31
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
transcriptional repressor activity, RNA polymerase II activating transcription factor bindingGO:00988115.77
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010785.08
heterocyclic compound bindingGO:19013631.06
sequence-specific DNA bindingGO:00435652.79
transcriptional repressor activity, RNA polymerase II transcription factor bindingGO:00011915.28
transcriptional activator activity, RNA polymerase II transcription factor bindingGO:00011905.77
transcription coactivator activityGO:00037134.04
transcription cofactor activityGO:00037123.44
identical protein bindingGO:00428022.63
transcription factor activity, transcription factor bindingGO:00009893.36
transcription factor activity, protein bindingGO:00009883.35
ribonucleoprotein complex bindingGO:00430215.15
double-stranded DNA bindingGO:00036903.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00009823.94
RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009813.29
protein homodimerization activityGO:00428033.16
transcription factor bindingGO:00081343.46
regulatory region nucleic acid bindingGO:00010673.03
structure-specific DNA bindingGO:00435664.98
RNA polymerase II transcription cofactor activityGO:00011045.22
core promoter proximal region sequence-specific DNA bindingGO:00009873.83
sequence-specific double-stranded DNA bindingGO:19908373.2
RNA polymerase II activating transcription factor bindingGO:00011026.13
RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009783.88
RNA polymerase II transcription factor bindingGO:00010855.08
transcription regulatory region DNA bindingGO:00442123.03
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012274.61
RNA polymerase II transcription coactivator activityGO:00011056.15
transcription factor activity, sequence-specific DNA bindingGO:00037002.65
organic cyclic compound bindingGO:00971591.05
phosphoprotein bindingGO:00512195.64
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012283.98
transcription regulatory region sequence-specific DNA bindingGO:00009763.24
RNA polymerase II regulatory region sequence-specific DNA bindingGO:00009773.37
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
protein dimerization activityGO:00469832.72
chromatin bindingGO:00036823.64
nucleic acid binding transcription factor activityGO:00010712.65