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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
  • Transcription Factor SOX-18 3
  • SRY Box 18 2
  • 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 SOX17.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX18 Gene

Genomics for SOX18 Gene

Regulatory Elements for SOX18 Gene

Enhancers for SOX18 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G064052 2 FANTOM5 Ensembl ENCODE dbSUPER 23.9 -6.0 -5995 5.7 HDGF FOXA2 PKNOX1 MLX ARNT WRNIP1 ARID4B SIN3A FEZF1 DMAP1 SOX18 RGS19 TCEA2 PRPF6 OPRL1 SAMD10 ZNF512B ENSG00000237371 C20orf204 UCKL1
GH20G064044 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.7 +4.7 4707 1.3 HDGF ZBTB7B GLIS2 SCRT2 FOS EGR2 ZNF263 SP3 SMARCC1 MBD2 SOX18 PRPF6 C20orf204 TCEA2 UCKL1 SLC2A4RG GC20M064049
GH20G063828 0.9 FANTOM5 Ensembl dbSUPER 1.4 +220.9 220938 0.2 ZNF341 CHRNA4 TCEA2 SOX18 SAMD10 ZBTB46 PIR57154
GH20G064049 1.3 ENCODE dbSUPER 0.7 -0.9 -937 1.6 HDGF ARID4B SIN3A FEZF1 DMAP1 ZNF48 ZNF121 SLC30A9 GLIS2 KLF7 PRPF6 C20orf204 SOX18 PIR32513
GH20G064050 1.1 ENCODE dbSUPER 0.7 0.0 -22 0.2 TBP DRAP1 SAP130 ZIC2 HBP1 ZFHX2 GLIS2 EGR1 POLR2A NR2F6 SOX18 PIR32513
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SOX18 on UCSC Golden Path with GeneCards custom track

Promoters for SOX18 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000140010 341 1001 ARID4B FEZF1 ZNF121 GLIS2 KLF7 SP3 SP5 TSHZ1 MAFF GLIS1

Genomic Location for SOX18 Gene

Chromosome:
20
Start:
64,047,582 bp from pter
End:
64,049,641 bp from pter
Size:
2,060 bases
Orientation:
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:
    P35713-SOX18_HUMAN
    Recommended name:
    Transcription factor SOX-18
    Protein Accession:
    P35713
    Secondary Accessions:
    • Q0VGA9
    • Q9NPH8

    Protein attributes for SOX18 Gene

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

neXtProt entry for SOX18 Gene

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

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

No data available for UniProtKB/Swiss-Prot for SOX18 Gene

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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 22292085
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 22292085
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
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

CRISPR Products

miRNA for SOX18 Gene

miRTarBase miRNAs that target SOX18

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOX18 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SOX18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 22292085
GO:0005634 nucleus IEA,IDA 18065521
GO:0044798 nuclear transcription factor complex IEA --
genes like me logo Genes that share ontologies with SOX18: view

Pathways & Interactions for SOX18 Gene

SuperPathways for SOX18 Gene

SuperPathway 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 IEP 16882943
GO:0001568 blood vessel development IEA --
GO:0001570 vasculogenesis IEA,ISS --
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with SOX18: view

No data available for SIGNOR curated interactions for SOX18 Gene

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for SOX18 Gene

GeneLoc Exon Structure for
SOX18
ECgene alternative splicing isoforms for
SOX18

Expression for SOX18 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SOX18 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOX18 Gene:

SOX18

SOURCE GeneReport for Unigene cluster for SOX18 Gene:

Hs.8619

Evidence on tissue expression from TISSUES for SOX18 Gene

  • Nervous system(4.1)
  • Heart(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX18 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tooth
Thorax:
  • heart
Abdomen:
  • abdominal wall
  • kidney
Pelvis:
  • testicle
  • ureter
  • urinary bladder
  • vagina
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • lymph node
  • lymph vessel
  • skin
genes like me logo Genes that share expression patterns with SOX18: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SOX18 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX18 34 35
  • 87.07 (n)
cow
(Bos Taurus)
Mammalia SOX18 34 35
  • 86.81 (n)
rat
(Rattus norvegicus)
Mammalia Sox18 34
  • 83.02 (n)
mouse
(Mus musculus)
Mammalia Sox18 34 16 35
  • 82.85 (n)
oppossum
(Monodelphis domestica)
Mammalia SOX18 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOX18 34 35
  • 64.44 (n)
lizard
(Anolis carolinensis)
Reptilia SOX18 35
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox18 34
  • 65.52 (n)
zebrafish
(Danio rerio)
Actinopterygii sox18 34 35
  • 66.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sox15 36 35
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 15 (a)
OneToMany
Species where no ortholog for SOX18 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for SOX18 (if available)
TreeFam:
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
rs28936692 Pathogenic, Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] 64,049,207(-) GGCTG(C/G)CTCAG intron-variant, reference, missense
rs28936693 Pathogenic, Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823] 64,049,234(-) TGGTG(A/T)GGGCA intron-variant, reference, missense
rs74315430 Pathogenic 64,048,601(-) GACTG(A/C)GCGCT intron-variant, reference, stop-gained
rs794728015 Pathogenic 64,048,840(-) AGAAG(C/T)AGGCG intron-variant, reference, stop-gained
rs144785707 Benign 64,049,274(+) GACTC(A/G)TCTGC intron-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv7699n54 CNV loss 21841781
dgv7700n54 CNV gain 21841781
esv22562 CNV loss 19812545
esv2758807 CNV gain+loss 17122850
nsv1072138 CNV deletion 25765185
nsv1160691 CNV deletion 26073780
nsv428381 CNV gain+loss 18775914
nsv470564 CNV gain 18288195
nsv509785 CNV insertion 20534489
nsv586703 CNV loss 21841781
nsv586720 CNV loss 21841781
nsv586721 CNV gain 21841781
nsv586722 CNV loss 21841781
nsv586726 CNV gain+loss 21841781
nsv586727 CNV gain 21841781
nsv586728 CNV loss 21841781
nsv586729 CNV loss 21841781
nsv953310 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
SOX18
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX18

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

Disorders for SOX18 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

SOX18_HUMAN
  • 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)
SOX18
Human Genome Epidemiology (HuGE) Navigator
SOX18
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOX18
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 22 64
  2. HGF and MET mutations in primary and secondary lymphedema. (PMID: 18564920) Finegold D.N. … Ferrell R.E. (Lymphat Res Biol 2008) 3 22 46 64
  3. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. (PMID: 12740761) Irrthum A. … Vikkula M. (Am. J. Hum. Genet. 2003) 3 4 22 64
  4. Structure, mapping, and expression of human SOX18. (PMID: 11130989) Pennisi D.J. … Koopman P. (Mamm. Genome 2000) 3 4 22 64
  5. The human SOX18 gene: cDNA cloning and high resolution mapping. (PMID: 10858556) Stanojcic S. … Stevanovic M. (Biochim. Biophys. Acta 2000) 3 4 22 64

Products for SOX18 Gene

Sources for SOX18 Gene

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