Gene table of SOX10 : SRY-box 10

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SOX10	OMIM link	Number of associated genes	genes
609136	PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	SOX10
PS193500	WAARDENBURG SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	PAX3, EDN3, EDNRB, MITF, SOX10, TYR, SNAI2

Download the gene annotation in CSV format

Annotation of the gene SOX10

Associated genes in ENSEMBL

ENSG00000100146

Associated proteins - SwissProt Accession ID

P56693

Associated PDB IDs

Cytogenetic Band

22q13.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

SOX9

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
core promoter proximal region DNA binding	GO:0001159	3.82
enhancer sequence-specific DNA binding	GO:0001158	5.36
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
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
transcriptional repressor activity, RNA polymerase II activating transcription factor binding	GO:0098811	5.77
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
transcriptional repressor activity, RNA polymerase II transcription factor binding	GO:0001191	5.28
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transcription coactivator activity	GO:0003713	4.04
transcription cofactor activity	GO:0003712	3.44
identical protein binding	GO:0042802	2.63
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
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
transcriptional activator activity, RNA polymerase II transcription factor binding	GO:0001190	5.77
enhancer binding	GO:0035326	5.21
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
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
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65