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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