Antigen Record Ag003583

AgACCAg003583
Date19-08-2008
Last updated14-12-2016
Antigen NameSOX10
Full NameSRY (sex-determining region Y)-box 10
SynonymSRY-related HMG-box gene 10; Transcription factor SOX-10; dominant megacolon, mouse, human homolog of; DOM; MGC15649; OTTHUMP00000028515; WS4; SOX10

another display format
  • SRY-related HMG-box gene 10
  • Transcription factor SOX-10
  • dominant megacolon, mouse, human homolog of
  • DOM
  • MGC15649
  • OTTHUMP00000028515
  • WS4
  • SOX10
UniProt IDP56693
NCBI Gene ID6663
GeneCard IDGC22M039963
SwissProt VARIANT IDVAR_021386
CommentYemenite deaf-blind hypopigmentation syndrome - Defects in SOX10 are a cause of Yemenite deaf-blind hypopigmentation syndrome. The disorder consists of cutaneous hypopigmented and hyperpigmented spots and patches, microcornea, coloboma and severe hearing loss. Another case observed in a girl with similar skin symptoms and hearing loss but without microcornea or coloboma is reported as a mild form of this syndrome
AnnotationThis is a fragment sequence.
IsoformsAg000201,  Ag001873

Alignment of all Isoforms
Mutation entriesAg003583

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RNA/protein expression profileRNA and protein Expression profile
Predicted HLA binders
Allele:  predictions
Peptide length:   
Reference sequenceAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESDKRPFIE
Antigen sequenceAQAARRKLADQYPHLHNAELTKTLGKLWRLLNESDKRPFIE