Gene table of SIX1 : SIX homeobox 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SIX1	OMIM link	Number of associated genes	genes
113650	BRANCHIOOTORENAL SYNDROME 1	ClinVar	link to OMIM	2	EYA1, SIX1
608389	BRANCHIOOTIC SYNDROME 3	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SIX1
PS124900	DEAFNESS, AUTOSOMAL DOMINANT	ClinVar, OMIM	link to OMIM	33	GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2

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Annotation of the gene SIX1

Associated genes in ENSEMBL

ENSG00000126778

Associated proteins - SwissProt Accession ID

Q15475

Associated PDB IDs

4egc

Cytogenetic Band

14q23.1

Tandem repeats annotation

The gene is in the tandem Group 636, together with the genes:

SIX6

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Transcriptional misregulation in cancer	hsa05202	5.21

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
macromolecular complex binding	GO:0044877	2.61
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
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
chromatin binding	GO:0003682	3.64
binding	GO:0005488	0.18