SOX18

SOX18
Identifiers
Aliases SOX18, HLTS, HLTRS, SRY-box 18
External IDs MGI: 103559 HomoloGene: 7546 GeneCards: SOX18
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

54345

20672

Ensembl

ENSG00000203883

ENSMUSG00000046470

UniProt

P35713

P43680

RefSeq (mRNA)

NM_018419

NM_009236

RefSeq (protein)

NP_060889.1

NP_033262.2

Location (UCSC) Chr 20: 64.05 – 64.05 Mb Chr 2: 181.67 – 181.67 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[3][4]

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.[4]

Interactions

SOX18 has been shown to interact with MEF2C.[5]

See also

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ 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. doi:10.1007/s100380050210. PMID 10807548.
  4. 1 2 "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18". line feed character in |title= at position 16 (help)
  5. ↑ 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. doi:10.1006/bbrc.2001.5589. PMID 11554755.

Further reading

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


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