Gene table of SIX3 : SIX homeobox 3

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SIX3	OMIM link	Number of associated genes	genes
PS236100	HOLOPROSENCEPHALY	ClinVar, OMIM, HUMSAVAR	link to OMIM	8	GAS1, PTCH1, GLI2, SIX3, SHH, TGIF1, CDON, ZIC2
147250	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	ClinVar	link to OMIM	2	SIX3, SHH
269160	SCHIZENCEPHALY	OMIM, HUMSAVAR	link to OMIM	4	SIX3, EMX2, COL4A1, SHH

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Annotation of the gene SIX3

Associated genes in ENSEMBL

ENSG00000138083

Associated proteins - SwissProt Accession ID

O95343

Associated PDB IDs

Cytogenetic Band

2p21

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

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
enzyme binding	GO:0019899	2.27
enhancer sequence-specific DNA binding	GO:0001158	5.36
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
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
double-stranded DNA binding	GO:0003690	3.09
histone deacetylase binding	GO:0042826	5.08
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
RNA polymerase II distal enhancer sequence-specific DNA binding	GO:0000980	5.58
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
enhancer binding	GO:0035326	5.21
transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0001205	6.48
transcription regulatory region DNA binding	GO:0044212	3.03
transcription cofactor binding	GO:0001221	6.52
transcription corepressor binding	GO:0001222	7.66
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
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
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
binding	GO:0005488	0.18