Gene table of GRHL2 : grainyhead like transcription factor 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GRHL2	OMIM link	Number of associated genes	genes
616029	ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	GRHL2
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

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
intronic transcription regulatory region DNA binding	GO:0044213	7.25
sequence-specific DNA binding	GO:0043565	2.79
structure-specific DNA binding	GO:0043566	4.98
protein binding	GO:0005515	0.46
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
regulatory region DNA binding	GO:0000975	3.03
regulatory region nucleic acid binding	GO:0001067	3.03
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
intronic transcription regulatory region sequence-specific DNA binding	GO:0001161	7.34
chromatin DNA binding	GO:0031490	5.37
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
chromatin binding	GO:0003682	3.64
heterocyclic compound binding	GO:1901363	1.06
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
nucleic acid binding transcription factor activity	GO:0001071	2.65