SOX18 - SRY-box transcription factor 18 Gene

Homo sapiens

Also known as HLTS; HLTRS

Gene ID: 54345 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-116940	Sm4		99.37%	Unkown
HY-RS13590	SOX18 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.