SOX18 - SRY-box transcription factor 18 Gene

Also Known as HLTS; HLTRS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54345

About SOX18

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:64,047,582-64,049,639 (from NCBI)

This gene has 1 transcript (splice variant), 150 orthologues, 20 paralogues and is associated with 4 phenotypes. Biased expression in fat (RPKM 25.4), kidney (RPKM 7.2) and 9 other tissues.

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 forming a protein complex with Other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]

SOX18 Products (1)

mRNA	Protein	Name
NM_018419.3	NP_060889.1	transcription factor SOX-18

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	22292085	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	22292085	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	18065521	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in angiogenesis	IEP IEP: Inferred from expression pattern	16882943	GOA
involved in blood vessel endothelial cell migration	IEP IEP: Inferred from expression pattern	16882943	GOA
involved in establishment of endothelial barrier	IMP IMP: Inferred from mutant phenotype	18065521	GOA
involved in hair cycle process	IMP IMP: Inferred from mutant phenotype	12740761	GOA
involved in lymphangiogenesis	IMP IMP: Inferred from mutant phenotype	12740761	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22292085	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	18065521	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	22292085	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18065521	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SOX18 Protein Structure

HMG_box

Sox17_18_mid

0
100
200
300
384 a.a.

Protein Preferred Names	Protein Names
transcription factor SOX-18	SRY (sex determining region Y)-box 18

SOX18 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80333	SOX18 Antibody (YA067)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Glomerulonephritis With Sparse Hair And Telangiectases Telangiectatic Membranoproliferative Glomerulonephritis HLTRS Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome Hlt-Renal Defect Syndrome Glomerulonephritis Sparse Hair Telangiectases
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	HLTS Hypotrichosis Lymphedema Telangiectasia Syndrome Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hypotrichosis
Hereditary Lymphedema I	Lymphedema Hereditary Lymphedema Type I Congenital Primary Lymphedema Lmph1 Milroy Disease Nonne-Milroy Lymphedema Pcl Lymphedema Hereditary Type 1
Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay Syndrome KTS Ktw Syndrome Angioosteohypertrophy Syndrome Angio-Osteohypertrophy Syndrome Klippel Trenaunay Syndrome Klippel-Trénaunay-Weber Syndrome Haemangiectatic Hypertrophy Weber-Klippel-Trenaunay Congenital Dysplastic Angiopathy Klippel-Trenaunay Disease Weber Klippel Trenaunay
Lymphedema-Distichiasis Syndrome	Lymphedema With Distichiasis Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus LPHDST Distichiasis-Lymphedema Syndrome Lymphedema Distichiasis Syndrome Hereditary Lymphedema-Distichiasis Syndrome Lymphedema Distichiasis
Hereditary Lymphedema	Milroy Disease
Yellow Nail Syndrome	Yns Lymphedema And Yellow Nails Lymphedema With Yellow Nails Lymphedema-Yellow Nails LYYN Hereditary Lymphedema And Yellow Nails Hereditary Lymphoedema And Yellow Nails
Hereditary Lymphedema Ii	Meige Syndrome Meige Disease Meige Lymphedema Hereditary Lymphedema Type Ii Lymphedema Hereditary Type 2 Lymphedema Praecox Lymphedema, Hereditary, Ii Blepharospasm-Oromandibular Dystonia Syndrome Meige Dystonia Meige'S Syndrome Late-Onset Lymphedema Lmph2 Lymphedema Preacox Lymphedema, Late-Onset Blepharospasm - Oromandibular Dystonia Blepharospasm-Oromandibular Dystonia Brueghel Syndrome Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome Oral Facial Dystonia Segmental Cranial Dystonia Meigs Syndrome
Ceroid Lipofuscinosis, Neuronal, 4	Ceroid Lipofuscinosis, Neuronal, Parry Type Cln4b Disease Neuronal Ceroid Lipofuscinosis 4b CLN4B Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis CLN4 Ceroid Lipofuscinosis, Neuronal, 4 , Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4 Neuronal Ceroid Lipofuscinosis 4 Parry Type Adult Neuronal Ceroid Lipofuscinosis 4b Kuf'S Disease Type B Kuf'S Disease, Autosomal Dominant Cln4 Disease Parry Disease Ceroid Lipofuscinosis, Neuronal 4 Ceroid Lipofuscinosis, Neuronal, 4b , Autosomal Dominant Kufs Disease Autosomal Dominant Neuronal Ceroid Lipofuscinosis Parry Type Ceroid Lipofuscinosis, Neuronal, 4, Parry Type Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type
Cholestasis-Lymphedema Syndrome	Aagenaes Syndrome Chls Lcs Cholestasis-Edema Syndrome, Norwegian Type Lymphedema-Cholestasis Syndrome Cholestasis Lymphedema Syndrome Lcs1 Lymphedema Cholestasis Syndrome
Hennekam Syndrome	Hennekam Lymphangiectasia Lymphedema Syndrome Hennekam Lymphangiectasia-Lymphedema Syndrome Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome Lymphangiectasies And Lymphedema Hennekam Type Generalized Lymphatic Dysplasia Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome
Leopard Syndrome 2	LPRD2 Noonan Syndrome With Multiple Lentigines 2 Leopard Syndrome, Type 2
Primary Lymphedema	Lymphedema Primary
Lymphatic Malformation 5	Meige Syndrome Meige Disease Meige Lymphedema Lymphedema Praecox Lymphedema, Late-Onset Late-Onset Lymphedema LMPH2 Meigs Syndrome LMPHM5 Lymphedema, Hereditary, Ii, Formerly Lmph2, Formerly Hereditary Lymphedema Ii Demons-Meigs Syndrome Hereditary Lymphedema Type Ii Lymphedema, Hereditary, 2 Lymphedema, Hereditary, Ii Meige'S Disease
Chylothorax, Congenital	Congenital Chylothorax Hydrothorax, Congenital
Telangiectasis	Telangiectasia
Lutembacher'S Syndrome	Lutembacher Syndrome Lutembacher'S Anomaly
Noonan Syndrome 5	NS5 Noonan Syndrome, Type 5
Hypertrichosis Universalis Congenita, Ambras Type	Ambras Syndrome Hypertrichosis, Congenital Generalized HTC1 HTC2 Chromosome Xq27.1 Interchromosomal Insertion Syndrome Cgh Hcg Ambras Type Hypertrichosis Universalis Congenita X-Linked Congenital Generalized Hypertrichosis Congenital Generalized Hypertrichosis, Macias-Flores Type Macias Flores-Garcia Cruz-Rivera Syndrome Htc 1 Hypertrichosis Universalis Congenita Ambras Type Hypertrichosis Congenital Generalized X-Linked Macias-Flores Garcia-Cruz Rivera Syndrome Congenital Generalized Hypertrichosis, Ambras Type
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-116940	Sm4	Inhibitor	99.01%	Unkown
HY-RS20494	Sox18 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS13590	SOX18 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27002	Sox18 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	SOX18	VGNC	VGNC:108060
Rattus norvegicus	SOX18	RGD	RGD:1311718
Mus musculus	SOX18	MGD	MGI:103559
Canis familiaris	SOX18	VGNC	VGNC:46677
Bos taurus	SOX18	VGNC	VGNC:35145
Others	SOX18	NCBI