SOX18 (SRY-box transcription factor 18)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 54345
Gene name SRY-box transcription factor 18
Gene symbol SOX18
Synonyms (NCBI Gene)
HLTRSHLTS
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 miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT018859 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
EGR1 Unknown 20054233
NFYA Activation 18496767
NFYB Activation 18496767
NFYC Activation 18496767
SP3 Repression 18496767
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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 cis-regulatory region binding IDA 18065521
GO:0000976 Function Transcription cis-regulatory region binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601618 11194 ENSG00000203883
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Detected in heart, lung, placenta, skeletal muscle, liver, kidney, spleen, prostate, ovary, msosmall intestine and colon. {ECO:0000269|PubMed:10807548, ECO:0000269|PubMed:11130989}.
Sequence 
MQRSPPGYGAQDDPPARRDCAWAPGHGAAADTRGLAAGPAALAAPAAPASPPSPQRSPPR
SPEPGRYGLSPAGRGERQAADESRIRRPMNAFMVWAKDERKRLAQQNPDLHNAVLSKMLG
KAWKELNAAEKRPFVEEAERLRVQHLRDHPNYKYRPRRKKQARKARRLEPGLLLPGLAPP
QPPPEPFPAASGSARAFRELPPLGAEFDGLGLPTPERSPLDGLEPGEAAFFPPPAAPEDC
ALRPFRAPYAPTELSRDPGGCYGAPLAEALRTAPPAAPLAGLYYGTLGTPGPYPGPLSPP
PEAPPLESAEPLGPAADLWADVDLTEFDQYLNCSRTRPDAPGLPYHVALAKLGPRAMSCP
EESSLISALSDASSAVYYSACISG
Sequence length 384
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypotrichosis-lymphedema-telangiectasia syndrome Likely pathogenic; Pathogenic rs794728015, rs28936692, rs28936693 RCV000184062
RCV000008464
RCV000008465
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Likely pathogenic; Pathogenic rs74315430, rs1210062863 RCV000008466
RCV000590995
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bladder exstrophy-epispadias-cloacal extrophy complex Conflicting classifications of pathogenicity rs568711898 RCV003389414
SOX18-related disorder Likely benign; Benign rs372499994, rs2059422135, rs1266650535, rs952352184, rs201931544 RCV003961087
RCV003956578
RCV003921718
RCV003914020
RCV003955809
Show/Hide Text Mining Associations (32)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 23874428
Atherosclerosis Associate 20054233
Breast Neoplasms Inhibit 27188720
Carcinoma Ductal Breast Associate 31427562
Carcinoma Hepatocellular Associate 26151573, 31427562, 35465267
Carcinoma Non Small Cell Lung Associate 31427562
Cardiovascular Abnormalities Associate 12740761
Central Nervous System Diseases Associate 36672963
Cholestasis Associate 27230943
Cushing's symphalangism Associate 12740761