SOX18 (SRY-box transcription factor 18)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54345
Gene name Gene Name - the full gene name approved by the HGNC.
SRY-box transcription factor 18
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOX18
Synonyms (NCBI Gene) Gene synonyms aliases
HLTRS, HLTS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HLTRS, HLTS
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.33
Summary Summary of gene provided in NCBI Entrez 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 for
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT018859 hsa-miR-335-5p Microarray 18185580
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
Transcription factor Regulation Reference
EGR1 Unknown 20054233
NFYA Activation 18496767
NFYB Activation 18496767
NFYC Activation 18496767
SP3 Repression 18496767
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(40)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601618 11194 ENSG00000203883
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name 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
View all (18 more)		 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, 26148450
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome hypotrichosis-lymphedema-telangiectasia syndrome (grouping) GenCC
Show/Hide Text Mining Associations (32)
Associations from Text Mining
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