SOX10 (SRY-box transcription factor 10)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6663
Gene name SRY-box transcription factor 10
Gene symbol SOX10
Synonyms (NCBI Gene)
DOMPCWHSOX-10WS2EWS4WS4C
Chromosome 22
Chromosome location 22q13.1
Summary This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after for
miRNA miRNA information provided by mirtarbase database.
13
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1380109 hsa-miR-1273 CLIP-seq
MIRT1380110 hsa-miR-1293 CLIP-seq
MIRT1380111 hsa-miR-1908 CLIP-seq
MIRT1380112 hsa-miR-4483 CLIP-seq
MIRT1380113 hsa-miR-4486 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
SOX9 Repression 15896776
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
76
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000976 Function Transcription cis-regulatory region binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602229 11190 ENSG00000100146
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56693
Protein name Transcription factor SOX-10
Protein function Transcription factor that plays a central role in developing and mature glia (By similarity). Specifically activates expression of myelin genes, during oligodendrocyte (OL) maturation, such as DUSP15 and MYRF, thereby playing a central role in o
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12444 Sox_N 12 → 93 Sox developmental protein N terminal Family
PF00505 HMG_box 104 → 172 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in fetal brain and in adult brain, heart, small intestine and colon.
Sequence 
MAEEQDLSEVELSPVGSEEPRCLSPGSAPSLGPDGGGGGSGLRASPGPGELGKVKKEQQD
GEADDDKFPVCIREAVSQVLSGYDWTLVPMPVRVNGASKSKPHVKRPMNAFMVWAQAARR
KLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIEEAERLRMQHKKDHPDYKYQPRRRKN
GKAAQGEAECPGGEAEQGGTAAIQAHYKSAHLDHRHPGEGSPMSDGNPEHPSGQSHGPPT
PPTTPKTELQSGKADPKRDGRSMGEGGKPHIDFGNVDIGEISHEVMSNMETFDVAELDQY
LPPNGHPGHVSSYSAAGYGLGSALAVASGHSAWISKPPGVALPTVSPPGVDAKAQVKTET
AGPQGPPHYTDQPSTSQIAYTSLSLPHYGSAFPSISRPQFDYSDHQPSGPYYGHSGQASG
LYSAFSYMGPSQRPLYTAISDPSPSGPQSHSPTHWEQPVYTTLSRP
Sequence length 466
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
314
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (17)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aganglionic megacolon Likely pathogenic rs760539449 RCV000736047
Deafness with anatomical inner ear anomalies Likely pathogenic; Pathogenic rs2145768544, rs2518052342 RCV003155439
RCV003155595
Hirschsprung disease, susceptibility to, 1 Likely pathogenic rs606231342 RCV000144844
Hypogonadism with anosmia Pathogenic rs1601887036, rs1932477493 RCV004794473
RCV001249445
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Charcot-Marie-Tooth disease Conflicting classifications of pathogenicity; Uncertain significance rs397515371, rs1601878982 RCV000789612
RCV000790227
Hearing impairment Conflicting classifications of pathogenicity rs142113652 RCV001375097
Melanoma Conflicting classifications of pathogenicity rs777737385 RCV005926389
Show/Hide Text Mining Associations (120)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 25690258, 31222589, 35322195
Ameloblastoma Associate 31895100, 37628576
Amyotrophic Lateral Sclerosis Associate 29337119
Arthrogryposis Associate 10762540
Arthropathy progressive pseudorheumatoid of childhood Associate 26945037
Astrocytoma Associate 26945037
Azoospermia Nonobstructive Associate 31377750
Bone Diseases Associate 23237859
Breast Neoplasms Associate 23260325, 26467042, 27809618, 28216417, 34972751, 37406289
Calcinosis Cutis Associate 36040798