SOX18 (SRY-box transcription factor 18)

Gene

• Entrez ID: 54345
• Gene name: SRY-box transcription factor 18
• Gene symbol: SOX18
• Synonyms: HLTRS, HLTS
• Chromosome: 20
• Chromosome location: 20q13.33
• 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 for

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018859	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	20054233
NFYA	Activation	18496767
NFYB	Activation	18496767
NFYC	Activation	18496767
SP3	Repression	18496767
ZNF148	Repression	18496767

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	22292085
GO:0000785	Component	Chromatin	IDA	22292085
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	18065521
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	22292085
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	22292085
GO:0001525	Process	Angiogenesis	IBA	21873635
GO:0001525	Process	Angiogenesis	IEP	16882943
GO:0001570	Process	Vasculogenesis	IBA	21873635
GO:0001570	Process	Vasculogenesis	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0001944	Process	Vasculature development	ISS
GO:0001946	Process	Lymphangiogenesis	IBA	21873635
GO:0001946	Process	Lymphangiogenesis	IMP	12740761
GO:0001947	Process	Heart looping	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0005634	Component	Nucleus	IDA	18065521
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of transcription, DNA-templated	IBA	21873635
GO:0009653	Process	Anatomical structure morphogenesis	IBA	21873635
GO:0022405	Process	Hair cycle process	IMP	12740761
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0043534	Process	Blood vessel endothelial cell migration	IEP	16882943
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18065521, 22292085
GO:0048469	Process	Cell maturation	IEA
GO:0048866	Process	Stem cell fate specification	IEA
GO:0060214	Process	Endocardium formation	ISS
GO:0060836	Process	Lymphatic endothelial cell differentiation	ISS
GO:0060956	Process	Endocardial cell differentiation	ISS
GO:0061028	Process	Establishment of endothelial barrier	IMP	18065521
GO:0072091	Process	Regulation of stem cell proliferation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 601618
• HGNC: 11194
• e!Ensembl: ENSG00000203883

Protein

• UniProt ID: P35713
• Protein name: Transcription factor SOX-18
• Protein function: Transcriptional activator that binds to the consensus sequence 5'-AACAAAG-3' in the promoter of target genes and plays an essential role in embryonic cardiovascular development and lymphangiogenesis. Activates transcription of PROX1 and other ge
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	85 → 153	HMG (high mobility group) box	Domain
  PF12067	Sox17_18_mid	197 → 249	Sox 17/18 central domain	Family

• Sequence:

  MQRSPPGYGAQDDPPARRDCAWAPGHGAAADTRGLAAGPAALAAPAAPASPPSPQRSPPR
  SPEPGRYGLSPAGRGERQAADESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAVLSKMLG
  KAWKELNAAEKRPFVEEAERLRVQHLRDHPNYKYRPRRKKQARKARRLEPGLLLPGLAPP
  QPPPEPFPAASGSARAFRELPPLGAEFDGLGLPTPERSPLDGLEPGEAAFFPPPAAPEDC
  ALRPFRAPYAPTELSRDPGGCYGAPLAEALRTAPPAAPLAGLYYGTLGTPGPYPGPLSPP
  PEAPPLESAEPLGPAADLWADVDLTEFDQYLNCSRTRPDAPGLPYHVALAKLGPRAMSCP
  EESSLISALSDASSAVYYSACISG

• Sequence length: 384

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Glomerulonephritis	Glomerulonephritis, Membranoproliferative	rs778043831
Hydrops fetalis	Hydrops Fetalis, Hydrops Fetalis, Non-Immune	rs28935477, rs1131691986
Hypotrichosis	Hypotrichosis, Generalized hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121	29307792
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	rs28936692, rs28936693, rs74315430, rs794728015, rs1210062863	24697860, 29307792, 12740761, 24697860, 12740761, 26148450
Kidney disease	Chronic Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315

Unknown
Disease name	Disease term	dbSNP ID	References
Absent eyebrow	Absent eyebrow
Alopecia	Alopecia
Arsenic encephalopathy	Arsenic Encephalopathy		16835338
Congenital epicanthus	Congenital Epicanthus
Cutis marmorata	Cutis marmorata
Dermatologic disorders	Dermatologic disorders		16835338
Malocclusion	Class III malocclusion
Pleural effusion	Pleural effusion disorder
Testicular hydrocele	Testicular Hydrocele