Seroatlas · Human Serome Atlas

SOX18

Transcription factor SOX-18

Also known as: SOX18_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P35713
Gene
SOX18
Ensembl
ENSG00000203883
Chromosome
20
Canonical length
384 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

384 residues, UniProt reviewed canonical sequence.

>P35713|SOX18
     1  MQRSPPGYGA QDDPPARRDC AWAPGHGAAA DTRGLAAGPA ALAAPAAPAS PPSPQRSPPR
    61  SPEPGRYGLS PAGRGERQAA DESRIRRPMN AFMVWAKDER KRLAQQNPDL HNAVLSKMLG
   121  KAWKELNAAE KRPFVEEAER LRVQHLRDHP NYKYRPRRKK QARKARRLEP GLLLPGLAPP
   181  QPPPEPFPAA SGSARAFREL PPLGAEFDGL GLPTPERSPL DGLEPGEAAF FPPPAAPEDC
   241  ALRPFRAPYA PTELSRDPGG CYGAPLAEAL RTAPPAAPLA GLYYGTLGTP GPYPGPLSPP
   301  PEAPPLESAE PLGPAADLWA DVDLTEFDQY LNCSRTRPDA PGLPYHVALA KLGPRAMSCP
   361  EESSLISALS DASSAVYYSA CISG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX18 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.65
Highest tissue expression
77 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 77 nTPM
  • adipose tissue: 48 nTPM
  • breast: 41 nTPM
  • endometrium: 32 nTPM
  • lung: 28 nTPM
  • thyroid gland: 28 nTPM

Single-cell type

  • vascular endothelial cells: 268 nCPM
  • lymphatic endothelial cells: 120 nCPM
  • late primary spermatocytes: 78 nCPM
  • adrenal medulla cells: 11 nCPM
  • early spermatids: 8.8 nCPM
  • pericytes: 7.6 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • thalamus: 26 nTPM
  • medulla oblongata: 25 nTPM
  • pons: 24 nTPM
  • amygdala: 22 nTPM
  • midbrain: 20 nTPM
  • spinal cord: 18 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX18.

Disease | AllUniProt

Conditions SOX18 is implicated in, by any mechanism.

  • Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) MIM:607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS) MIM:137940

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 224 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hypotrichosis-lymphedema-telangiectasia syndrome
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.05
gnomAD pLI
0.15
gnomAD missense Z
0.86
DepMap mean gene effect
0.14
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SOX18 as an antibody target. Whether an autoantibody or antibody against SOX18 could matter depends on whether native SOX18 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SOX18 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SOX18 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SOX18. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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