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SOX18 SRY-box 18 [ Homo sapiens (human) ]

Gene ID: 54345, updated on 3-Jun-2018
Official Symbol
SOX18provided by HGNC
Official Full Name
SRY-box 18provided by HGNC
Primary source
HGNC:HGNC:11194
See related
Ensembl:ENSG00000203883 MIM:601618; Vega:OTTHUMG00000033017
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HLTS; HLTRS
Summary
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]
Expression
Biased expression in fat (RPKM 25.4), kidney (RPKM 7.2) and 9 other tissues See more
Orthologs
See SOX18 in Genome Data Viewer
Location:
20q13.33
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (64047726..64049626, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (62679079..62680979, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene pre-mRNA processing factor 6 Neighboring gene chromosome 20 open reading frame 204 Neighboring gene SOX18 promoter region Neighboring gene transcription elongation factor A2 Neighboring gene regulator of G protein signaling 19 Neighboring gene microRNA 6813 Neighboring gene LKAAEAR motif containing 1 Neighboring gene opioid related nociceptin receptor 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
angiogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
artery development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood vessel endothelial cell migration IEP
Inferred from Expression Pattern
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
embryonic heart tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardium formation ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of endothelial barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
hair cycle process IMP
Inferred from Mutant Phenotype
more info
PubMed 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
lymphangiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lymphangiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
lymphatic endothelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
stem cell fate specification IEA
Inferred from Electronic Annotation
more info
 
vasculature development ISS
Inferred from Sequence or Structural Similarity
more info
 
vasculogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription factor SOX-18
Names
SRY (sex determining region Y)-box 18

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008095.1 RefSeqGene

    Range
    5001..6901
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018419.2NP_060889.1  transcription factor SOX-18

    See identical proteins and their annotated locations for NP_060889.1

    Status: REVIEWED

    Source sequence(s)
    AF270652
    Consensus CDS
    CCDS13552.1
    UniProtKB/Swiss-Prot
    P35713
    Related
    ENSP00000341815.7, OTTHUMP00000031624, ENST00000340356.8, OTTHUMT00000080265
    Conserved Domains (2) summary
    cd01388
    Location:84155
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam12067
    Location:193382
    Sox_C_TAD; Sox C-terminal transactivation domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    64047726..64049626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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