• Gene id: 54345

Gene Summary

• Gene Symbol: SOX18   Gene   UCSC   Ensembl
• Aliases: HLTRS, HLTS
• Gene name: SRY-box transcription factor 18
• Alternate names: transcription factor SOX-18, SRY (sex determining region Y)-box 18, SRY-box 18,
• Gene location: 20q13.33 (156572604: 156525404)     Exons: 41     NC_000001.11
• Gene summary(Entrez): 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 for
• OMIM: 601618

Protein Summary

• Protein general information: P35713  
  • Name: Transcription factor SOX 18
  • Length: 384  
  • Mass: 40891
  • Tissue specificity: Detected in heart, lung, placenta, skeletal muscle, liver, kidney, spleen, prostate, ovary, msosmall intestine and colon. {ECO
• Sequence:

  MQRSPPGYGAQDDPPARRDCAWAPGHGAAADTRGLAAGPAALAAPAAPASPPSPQRSPPRSPEPGRYGLSPAGRG
  ERQAADESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAVLSKMLGKAWKELNAAEKRPFVEEAERLRVQHLRDHP
  NYKYRPRRKKQARKARRLEPGLLLPGLAPPQPPPEPFPAASGSARAFRELPPLGAEFDGLGLPTPERSPLDGLEP
  GEAAFFPPPAAPEDCALRPFRAPYAPTELSRDPGGCYGAPLAEALRTAPPAAPLAGLYYGTLGTPGPYPGPLSPP
  PEAPPLESAEPLGPAADLWADVDLTEFDQYLNCSRTRPDAPGLPYHVALAKLGPRAMSCPEESSLISALSDASSA
  VYYSACISG

• Structural information:
  • Protein Domains: (263..38-)
    (/note="Sox-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00849"-)
  • Interpro: IPR009071  IPR036910  IPR033392  IPR021934  
  • Prosite: PS50118 PS51516
  • STRING: ENSP00000341815
• Other Databases: GeneCards:  SOX18  Malacards:  SOX18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0009653	anatomical structure morphogenesis	IBA	biological process
GO:0001946	lymphangiogenesis	IBA	biological process
GO:0001570	vasculogenesis	IBA	biological process
GO:0001525	angiogenesis	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005667	transcription regulator complex	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0060214	endocardium formation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0035050	embryonic heart tube development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0001946	lymphangiogenesis	IEA	biological process
GO:0001944	vasculature development	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0072091	regulation of stem cell proliferation	IEA	biological process
GO:0060956	endocardial cell differentiation	IEA	biological process
GO:0060836	lymphatic endothelial cell differentiation	IEA	biological process
GO:0048866	stem cell fate specification	IEA	biological process
GO:0048469	cell maturation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001945	lymph vessel development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0001570	vasculogenesis	ISS	biological process
GO:0001944	vasculature development	ISS	biological process
GO:0001947	heart looping	ISS	biological process
GO:0035050	embryonic heart tube development	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0060214	endocardium formation	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0060836	lymphatic endothelial cell differentiation	ISS	biological process
GO:0060956	endocardial cell differentiation	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0022405	hair cycle process	IMP	biological process
GO:0061028	establishment of endothelial barrier	IMP	biological process
GO:0001946	lymphangiogenesis	IMP	biological process
GO:0001525	angiogenesis	IEP	biological process
GO:0043534	blood vessel endothelial cell migration	IEP	biological process

Diseases

Associated diseases	References
Hypotrichosis-lymphedema-telangiectasia syndrome	KEGG:H02168
Hypotrichosis-lymphedema-telangiectasia syndrome	KEGG:H02168
Hypotrichosis-lymphedema-telangiectasia syndrome	PMID:12740761
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)