SRY-Box 11

Alternative Names

  • SOX11
  • SRY-Related HMG-Box Gene 11

Associated Diseases

SOX11-Related Syndrome
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OMIM Number

600898

NCBI Gene ID

6664

Uniprot ID

P35716

Length

9,002 bases

No. of Exons

1

No. of isoforms

1

Protein Name

Transcription factor SOX-11

Molecular Mass

46679 Da

Amino Acid Count

441

Genomic Location

chr2:5,692,383-5,701,384

Gene Map Locus
2p25.2

Description

This intronless 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 regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_003108.3:c.146T>ALebanonNC_000002.12:g.5692867T>APathogenicNG_050751.1:g.5201T>A; NM_003108.3:c.146T>A; NP_003099.1:p.Ile49Asn
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