SOX8

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.[5][6][7]

SOX8
Identifiers
AliasesSOX8, SRY-box 8, SRY-box transcription factor 8
External IDsOMIM: 605923 MGI: 98370 HomoloGene: 7950 GeneCards: SOX8
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16p13.3Start981,770 bp[1]
End986,979 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

30812

20681

Ensembl

ENSG00000005513

ENSMUSG00000024176

UniProt

P57073

Q04886

RefSeq (mRNA)

NM_014587

NM_011447

RefSeq (protein)

NP_055402

NP_035577

Location (UCSC)Chr 16: 0.98 – 0.99 MbChr 17: 25.57 – 25.57 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ATR-16 syndrome).[7]

See also

  • SOX genes

References

  1. GRCh38: Ensembl release 89: ENSG00000005513 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000024176 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G (Apr 2000). "The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome". Genomics. 63 (1): 108–16. doi:10.1006/geno.1999.6060. PMID 10662550.
  6. Schepers GE, Bullejos M, Hosking BM, Koopman P (Apr 2000). "Cloning and characterisation of the Sry-related transcription factor gene Sox8". Nucleic Acids Res. 28 (6): 1473–80. doi:10.1093/nar/28.6.1473. PMC 111037. PMID 10684944.
  7. "Entrez Gene: SOX8 SRY (sex determining region Y)-box 8".

Further reading


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