Gene table of MITF : melanogenesis associated transcription factor

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MITF	OMIM link	Number of associated genes	genes
PS155600	MELANOMA, CUTANEOUS MALIGNANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	11	STK11, POT1, BRAF, TERT, PTEN, CDKN2A, MITF, TYR, MC1R, CDK4, XRCC3
103500	TIETZ SYNDROME	OMIM, HUMSAVAR	link to OMIM	1	MITF
PS193500	WAARDENBURG SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	PAX3, EDN3, EDNRB, MITF, SOX10, TYR, SNAI2

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Annotation of the gene MITF

Associated genes in ENSEMBL

ENSG00000187098

Associated proteins - SwissProt Accession ID

O75030

Associated PDB IDs

4c7n

Cytogenetic Band

3p13

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Melanoma	hsa05218	6.56
Melanogenesis	hsa04916	5.97
Pathways in cancer	hsa05200	3.98
Osteoclast differentiation	hsa04380	5.64

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
binding	GO:0005488	0.18
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
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
transcription regulatory region DNA binding	GO:0044212	3.03
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001227	4.61
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
protein dimerization activity	GO:0046983	2.72
nucleic acid binding transcription factor activity	GO:0001071	2.65