SOX18

SOX18
Identifiers
AliasesSOX18, HLTS, HLTRS, SRY-box 18
External IDsMGI: 103559 HomoloGene: 7546 GeneCards: SOX18
Gene location (Human)
Chr.Chromosome 20 (human)[1]
BandNo data availableStart64,047,582 bp[1]
End64,049,641 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

54345

20672

Ensembl

ENSG00000203883

ENSMUSG00000046470

UniProt

P35713

P43680

RefSeq (mRNA)

NM_018419

NM_009236

RefSeq (protein)

NP_060889

NP_033262

Location (UCSC)Chr 20: 64.05 – 64.05 MbChr 20: 181.67 – 181.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[5][6]

Function

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 regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.[6]

Interactions

SOX18 has been shown to interact with MEF2C.[7]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000203883 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000046470 - Ensembl, May 2017
  3. "Human PubMed Reference:".
  4. "Mouse PubMed Reference:".
  5. Azuma T, Seki N, Yoshikawa T, Saito T, Masuho Y, Muramatsu M (July 2000). "cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18". J. Hum. Genet. 45 (3): 192–5. PMID 10807548. doi:10.1007/s100380050210.
  6. 1 2 "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18".
  7. Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochem. Biophys. Res. Commun. 287 (2): 493–500. PMID 11554755. doi:10.1006/bbrc.2001.5589.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.