Gene table of ZIC3 : Zic family member 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ZIC3	OMIM link	Number of associated genes	genes
314390	VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ZIC3
PS306955	HETEROTAXY, VISCERAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	NODAL, MMP21, CFAP53, ZIC3, CFC1, ACVR2B

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Annotation of the gene ZIC3

Associated genes in ENSEMBL

ENSG00000156925

Associated proteins - SwissProt Accession ID

O60481

Associated PDB IDs

Cytogenetic Band

Xq26.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Signaling pathways regulating pluripotency of stem cells	hsa04550	5.6

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Transcriptional regulation of pluripotent stem cells	R-HSA-452723	7.94
Developmental Biology	R-HSA-1266738	3.48
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation	R-HSA-2892247	8.52

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
ion binding	GO:0043167	1.36
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
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
cation binding	GO:0043169	1.4
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
protein binding	GO:0005515	0.46
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