Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
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

Show/Hide all(1)

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

Transcription factors

Show/Hide all(6)

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

Show/Hide all(60)

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
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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	IEA
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	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	22292085
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IEP	16882943
GO:0001568	Process	Blood vessel development	IEA
GO:0001570	Process	Vasculogenesis	IBA
GO:0001570	Process	Vasculogenesis	IEA
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	IEA
GO:0001944	Process	Vasculature development	ISS
GO:0001945	Process	Lymph vessel development	IEA
GO:0001946	Process	Lymphangiogenesis	IBA
GO:0001946	Process	Lymphangiogenesis	IEA
GO:0001946	Process	Lymphangiogenesis	IMP	12740761
GO:0001947	Process	Heart looping	ISS
GO:0003151	Process	Outflow tract morphogenesis	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18065521
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007507	Process	Heart development	IEA
GO:0009888	Process	Tissue development	IEA
GO:0022405	Process	Hair cycle process	IMP	12740761
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035050	Process	Embryonic heart tube development	ISS
GO:0043534	Process	Blood vessel endothelial cell migration	IEP	16882943
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	18065521, 22292085
GO:0048469	Process	Cell maturation	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048866	Process	Stem cell fate specification	IEA
GO:0060214	Process	Endocardium formation	IEA
GO:0060214	Process	Endocardium formation	ISS
GO:0060836	Process	Lymphatic endothelial cell differentiation	IEA
GO:0060836	Process	Lymphatic endothelial cell differentiation	ISS
GO:0060956	Process	Endocardial cell differentiation	IEA
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

MIM	HGNC	e!Ensembl
601618	11194	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

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	hypotrichosis-lymphedema-telangiectasia syndrome, hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	rs28936692, rs28936693, rs74315430, rs794728015, rs1210062863	N/A

Show/Hide Text Mining Associations (32)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Endometrial Neoplasms	Associate	30935961
Hydrops Fetalis	Associate	12740761
Hypotrichosis Lymphedema Telangiectasia Syndrome	Associate	12740761
Laryngeal Neoplasms	Associate	31189744
Leiomyosarcoma	Associate	22419440
Lung Neoplasms	Associate	37511076
Lymphatic Diseases	Associate	12740761
Lymphedema	Associate	12740761, 18564920
Meningomyelocele	Associate	27757173
Mycosis Fungoides	Associate	27230943
Neoplasm Metastasis	Associate	31427562, 37511076
Neoplasms	Associate	26588701, 37511076
Osteosarcoma	Associate	32196572, 36053455
Ovarian Neoplasms	Associate	31427562, 31825847
Sarcoma Kaposi	Associate	32518203
Seizures	Associate	36672963
Spinal Dysraphism	Associate	27757173
Stomach Neoplasms	Associate	26396173, 31881968
Telangiectasis	Associate	12740761
Tertiary Lymphoid Structures	Inhibit	27230943
Urinary Bladder Neoplasms	Associate	32449280
Uterine Cervical Neoplasms	Associate	26588701

SOX18 (SRY-box transcription factor 18)