From Wikipedia, the free encyclopedia
Jump to: navigation, search
SRY (sex determining region Y)-box 18
Symbols SOX18 ; HLTRS; HLTS
External IDs OMIM601618 MGI103559 HomoloGene7546 GeneCards: SOX18 Gene
RNA expression pattern
PBB GE SOX18 219568 x at tn.png
More reference expression data
Species Human Mouse
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 Mb
Chr 2:
181.67 – 181.67 Mb
PubMed search [1] [2]

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[1][2]


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.[2]


SOX18 has been shown to interact with MEF2C.[3]

See also[edit]


  1. ^ 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. 
  2. ^ a b "Entrez Gene: SOX18 SRY (sex determining region Y)-box 18". 
  3. ^ 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[edit]

External links[edit]

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