SOX10 (SRY-box transcription factor 10)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6663
Gene name Gene Name - the full gene name approved by the HGNC.
SRY-box transcription factor 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOX10
Synonyms (NCBI Gene) Gene synonyms aliases
DOM, PCWH, SOX-10, WS2E, WS4, WS4C
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
SOX9 Repression 15896776
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(76)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602229 11190 ENSG00000100146
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hirschsprung Disease Hirschsprung disease, susceptibility to, 1 rs606231342 N/A
Waardenburg Syndrome Waardenburg syndrome type 4C, Waardenburg syndrome type 2E, Waardenburg syndrome type 2E, without neurologic involvement, Waardenburg syndrome type 4A, Waardenburg syndrome type 2E, with neurologic involvement, Waardenburg syndrome type 2A, waardenburg syndrome type 1 rs763210407, rs397515366, rs1569169289, rs397515386, rs1555939564, rs1373797370, rs397515367, rs1569167515, rs397515387, rs1555937390, rs1555939403, rs74315515, rs1601886662, rs397515457, rs1555939408
View all (33 more)		 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease N/A N/A ClinVar
hearing impairment Hearing impairment N/A N/A ClinVar
Yemenite Deaf-Blind Hypopigmentation Syndrome deaf blind hypopigmentation syndrome, Yemenite type N/A N/A GenCC
Show/Hide Text Mining Associations (120)
Associations from Text Mining Disease 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