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Aliases for SOX18 Gene

Aliases for SOX18 Gene

  • SRY-Box 18 2 3 5
  • SRY (Sex Determining Region Y)-Box 18 2 3
  • SRY Box 18 2 3
  • HLTRS 3
  • HLTS 3

External Ids for SOX18 Gene

Previous GeneCards Identifiers for SOX18 Gene

  • GC20M062556
  • GC20M063358
  • GC20M063405
  • GC20M062059
  • GC20M062149
  • GC20M062679
  • GC20M059413

Summaries for SOX18 Gene

Entrez Gene Summary for SOX18 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for SOX18 Gene

SOX18 (SRY-Box 18) is a Protein Coding gene. Diseases associated with SOX18 include hypotrichosis-lymphedema-telangiectasia syndrome and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. Among its related pathways are ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein heterodimerization activity. An important paralog of this gene is SOX11.

UniProtKB/Swiss-Prot for SOX18 Gene

  • Binds to the consensus sequence 5-AACAAAG-3 and is able to trans-activate transcription via this site.

Gene Wiki entry for SOX18 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX18 Gene

Genomics for SOX18 Gene

Regulatory Elements for SOX18 Gene

Promoters for SOX18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SOX18 on UCSC Golden Path with GeneCards custom track

Genomic Location for SOX18 Gene

64,047,582 bp from pter
64,049,641 bp from pter
2,060 bases
Minus strand

Genomic View for SOX18 Gene

Genes around SOX18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX18 Gene

Proteins for SOX18 Gene

  • Protein details for SOX18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transcription factor SOX-18
    Protein Accession:
    Secondary Accessions:
    • Q0VGA9
    • Q9NPH8

    Protein attributes for SOX18 Gene

    384 amino acids
    Molecular mass:
    40891 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SOX18 Gene

Proteomics data for SOX18 Gene at MOPED

Post-translational modifications for SOX18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX18 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SOX18 Gene

Domains & Families for SOX18 Gene

Gene Families for SOX18 Gene

Protein Domains for SOX18 Gene


Suggested Antigen Peptide Sequences for SOX18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 HMG box DNA-binding domain.
  • Contains 1 HMG box DNA-binding domain.
  • Contains 1 Sox C-terminal domain.
genes like me logo Genes that share domains with SOX18: view

Function for SOX18 Gene

Molecular function for SOX18 Gene

UniProtKB/Swiss-Prot Function:
Binds to the consensus sequence 5-AACAAAG-3 and is able to trans-activate transcription via this site.

Gene Ontology (GO) - Molecular Function for SOX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
GO:0044212 transcription regulatory region DNA binding IEA,IDA 18065521
genes like me logo Genes that share ontologies with SOX18: view
genes like me logo Genes that share phenotypes with SOX18: view

Human Phenotype Ontology for SOX18 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOX18 Gene

MGI Knock Outs for SOX18:

Animal Model Products

miRNA for SOX18 Gene

miRTarBase miRNAs that target SOX18

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SOX18 Gene

Localization for SOX18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX18 Gene

Subcellular locations from

Jensen Localization Image for SOX18 Gene COMPARTMENTS Subcellular localization image for SOX18 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for SOX18 Gene

Pathways & Interactions for SOX18 Gene

SuperPathways for SOX18 Gene

Superpath Contained pathways
1 ERK Signaling
genes like me logo Genes that share pathways with SOX18: view

Pathways by source for SOX18 Gene

1 Qiagen pathway for SOX18 Gene

Gene Ontology (GO) - Biological Process for SOX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 22292085
GO:0001525 angiogenesis IEA,IEP 16882943
GO:0001570 vasculogenesis IEA,ISS --
GO:0001701 in utero embryonic development IEA --
GO:0001942 hair follicle development IEA --
genes like me logo Genes that share ontologies with SOX18: view

No data available for SIGNOR curated interactions for SOX18 Gene

Drugs & Compounds for SOX18 Gene

No Compound Related Data Available

Transcripts for SOX18 Gene

mRNA/cDNA for SOX18 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(94) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOX18 Gene

SRY (sex determining region Y)-box 18:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SOX18 Gene

No ASD Table

Relevant External Links for SOX18 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SOX18 Gene

mRNA expression in normal human tissues for SOX18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SOX18 Gene

This gene is overexpressed in Tlymphocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SOX18 Gene

SOURCE GeneReport for Unigene cluster for SOX18 Gene Hs.8619

genes like me logo Genes that share expression patterns with SOX18: view

Protein tissue co-expression partners for SOX18 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SOX18 Gene

Orthologs for SOX18 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX18 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SOX18 35
  • 86.81 (n)
  • 87.76 (a)
SOX18 36
  • 89 (a)
(Canis familiaris)
Mammalia SOX18 35
  • 87.07 (n)
  • 84.7 (a)
SOX18 36
  • 92 (a)
(Mus musculus)
Mammalia Sox18 35
  • 82.85 (n)
  • 85.94 (a)
Sox18 16
Sox18 36
  • 88 (a)
(Rattus norvegicus)
Mammalia Sox18 35
  • 83.02 (n)
  • 85.68 (a)
(Monodelphis domestica)
Mammalia SOX18 36
  • 56 (a)
(Pan troglodytes)
Mammalia SOX18 36
  • 100 (a)
(Gallus gallus)
Aves SOX18 35
  • 64.44 (n)
  • 62.54 (a)
SOX18 36
  • 51 (a)
(Anolis carolinensis)
Reptilia SOX18 36
  • 46 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sox18 35
  • 65.52 (n)
  • 61.72 (a)
(Danio rerio)
Actinopterygii sox18 35
  • 66.04 (n)
  • 68.4 (a)
sox18 36
  • 39 (a)
fruit fly
(Drosophila melanogaster)
Insecta Sox15 37
  • 51 (a)
Sox15 36
  • 12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 15 (a)
Species with no ortholog for SOX18:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SOX18 Gene

Gene Tree for SOX18 (if available)
Gene Tree for SOX18 (if available)

Paralogs for SOX18 Gene

(2) SIMAP similar genes for SOX18 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SOX18: view

Variants for SOX18 Gene

Sequence variations from dbSNP and Humsavar for SOX18 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_016210 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS)
VAR_016211 Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS)

Structural Variations from Database of Genomic Variants (DGV) for SOX18 Gene

Variant ID Type Subtype PubMed ID
nsv913190 CNV Loss 21882294
nsv428381 CNV Gain+Loss 18775914
nsv913270 CNV Loss 21882294
dgv4654n71 CNV Loss 21882294
dgv4656n71 CNV Loss 21882294
nsv913285 CNV Gain 21882294
nsv509785 CNV Insertion 20534489
dgv1346e1 CNV Complex 17122850
dgv1347e1 CNV Complex 17122850
dgv4658n71 CNV Loss 21882294
dgv4659n71 CNV Loss 21882294
nsv913304 CNV Loss 21882294
nsv913305 CNV Loss 21882294
nsv470564 CNV Gain 18288195
dgv4660n71 CNV Loss 21882294
dgv4661n71 CNV Loss 21882294
esv22562 CNV Loss 19812545

Variation tolerance for SOX18 Gene

Gene Damage Index Score: 0.86; 18.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOX18 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX18 Gene

Disorders for SOX18 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SOX18 Gene - From: OMIM, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis-lymphedema-telangiectasia syndrome
  • hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
  • glomerulonephritis with sparse hair and telangiectases
  • lymphatic edema
klippel-trenaunay-weber syndrome
  • klippel-trenaunay syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SOX18 in MalaCards View complete list of genes associated with diseases


  • Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]: A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. {ECO:0000269 PubMed:12740761}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS) [MIM:137940]: A syndrome characterized by sparse hair, lymphatic edemas, peripheral vein anomalies, and renal disease. {ECO:0000269 PubMed:12740761, ECO:0000269 PubMed:24697860}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SOX18

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SOX18: view

No data available for Genatlas for SOX18 Gene

Publications for SOX18 Gene

  1. cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18. (PMID: 10807548) Azuma T. … Muramatsu M. (J. Hum. Genet. 2000) 2 3 4 23 67
  2. ZBP-89 and Sp3 down-regulate while NF-Y up-regulates SOX18 promoter activity in HeLa cells. (PMID: 18496767) Petrovic I. … Stevanovic M. (Mol. Biol. Rep. 2009) 3 23
  3. HGF and MET mutations in primary and secondary lymphedema. (PMID: 18564920) Finegold D.N. … Ferrell R.E. (Lymphat Res Biol 2008) 3 23
  4. Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development. (PMID: 16882943) Young N. … Koopman P. (J. Natl. Cancer Inst. 2006) 3 23
  5. Transcription factor SOX18 is expressed in human coronary atherosclerotic lesions and regulates DNA synthesis and vascular cell growth. (PMID: 16179596) GarcA-a-RamA-rez M. … Badimon L. (Arterioscler. Thromb. Vasc. Biol. 2005) 3 23

Products for SOX18 Gene

Sources for SOX18 Gene

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