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Aliases for SOX18 Gene

Aliases for SOX18 Gene

  • SRY (Sex Determining Region Y)-Box 18 2 3
  • HLTS 3 6
  • Transcription Factor SOX-18 3
  • SRY-Box 18 3

External Ids for SOX18 Gene

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 (Sex Determining Region Y)-Box 18) is a Protein Coding gene. Diseases associated with SOX18 include hypotrichosis-lymphedema-telangiectasia syndrome and yellow nail syndrome. Among its related pathways are ERK Signaling. GO annotations related to this gene include transcription regulatory region DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is SOX3.

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

Genomic Location for SOX18 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SOX18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX18 Gene

Regulatory Elements 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

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:

No data available for DME Specific Peptides for SOX18 Gene

Domains for SOX18 Gene

Gene Families for SOX18 Gene

HGNC:
  • SOX :SRY (sex determining region Y)-boxes

Protein Domains for SOX18 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SOX18_HUMAN
Domain:
  • Contains 1 HMG box DNA-binding domain.:
    • P35713
  • Contains 1 Sox C-terminal domain.:
    • P35713
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 22292085
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 22292085
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity --
genes like me logo Genes that share ontologies with SOX18: view
genes like me logo Genes that share phenotypes with SOX18: view

miRNA for SOX18 Gene

miRTarBase miRNAs that target SOX18

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

Localization for SOX18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX18 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOX18 Gene COMPARTMENTS Subcellular localization image for SOX18 gene
Compartment Confidence
nucleus 4
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 IDA 18065521
GO:0044798 nuclear transcription factor complex IEA --
genes like me logo Genes that share ontologies with SOX18: view

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

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
SOX18
ECgene alternative splicing isoforms for
SOX18

Expression for SOX18 Gene

mRNA expression in normal human tissues for SOX18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with SOX18: view

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 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOX18 36
  • 86.81 (n)
  • 87.76 (a)
SOX18 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX18 36
  • 87.07 (n)
  • 84.7 (a)
SOX18 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sox18 36
  • 82.85 (n)
  • 85.94 (a)
Sox18 16
Sox18 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOX18 37
  • 56 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sox18 36
  • 83.02 (n)
  • 85.68 (a)
chicken
(Gallus gallus)
Aves SOX18 36
  • 64.44 (n)
  • 62.54 (a)
SOX18 37
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOX18 37
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox18 36
  • 65.52 (n)
  • 61.72 (a)
zebrafish
(Danio rerio)
Actinopterygii sox18 36
  • 66.04 (n)
  • 68.4 (a)
sox18 37
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sox15 37
  • 12 (a)
OneToMany
Sox15 38
  • 51 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 15 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SOX18 (if available)
TreeFam:
Gene Tree for SOX18 (if available)

Paralogs for SOX18 Gene

Selected 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 MAF
rs12303 -- 64,047,793(-) CTTTG(A/C/G/T)CCTTT utr-variant-3-prime
rs6011267 -- 64,051,165(+) AGGTG(C/T)GGCCC upstream-variant-2KB
rs6062617 -- 64,050,981(+) GTCCA(G/T)CCCTC upstream-variant-2KB
rs6062618 -- 64,051,176(+) CTGGC(G/T)TTTCT upstream-variant-2KB
rs6122240 -- 64,050,115(+) TCTGA(G/T)TCCCC upstream-variant-2KB

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

Relevant External Links for SOX18 Gene

HapMap Linkage Disequilibrium report
SOX18
Human Gene Mutation Database (HGMD)
SOX18

Disorders for SOX18 Gene

(1) OMIM Diseases for SOX18 Gene (601618)

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.

(9) Novoseek inferred disease relationships for SOX18 Gene

Disease -log(P) Hits PubMed IDs
lymphedema 74.2 3
klippel-trenaunay syndrome 65.4 1
vascular anomaly 51.6 1
pancreatic cancer 20.9 1
breast cancer 16.2 2

Relevant External Links for SOX18

Genetic Association Database (GAD)
SOX18
Human Genome Epidemiology (HuGE) Navigator
SOX18
genes like me logo Genes that share disorders with SOX18: view

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
  2. The human SOX18 gene: cDNA cloning and high resolution mapping. (PMID: 10858556) Stanojcic S. … Stevanovic M. (Biochim. Biophys. Acta 2000) 3 4 23
  3. Structure, mapping, and expression of human SOX18. (PMID: 11130989) Pennisi D.J. … Koopman P. (Mamm. Genome 2000) 3 4 23
  4. 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 23
  5. HGF and MET mutations in primary and secondary lymphedema. (PMID: 18564920) Finegold D.N. … Ferrell R.E. (Lymphat Res Biol 2008) 3 23 49

Products for SOX18 Gene

Sources for SOX18 Gene

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