SOX18 - SRY-box transcription factor 18 Gene

中文名称：SRY-box 转录因子 18

种属: Homo sapiens

同用名: HLTS; HLTRS

基因 ID: 54345 | 基因类型: protein coding

关于 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.

功能概要

该基因编码参与胚胎发育调控和细胞命运决定的转录因子 SOX (SRY 相关 HMG 盒) 家族成员。编码的蛋白质在与其他蛋白质形成蛋白质复合物后可以充当转录调节剂。这种蛋白质在毛发、血管和淋巴管发育中发挥作用。该基因的突变与少毛症-淋巴水肿-毛细血管扩张症的隐性和显性形式有关。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	22292085	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	22292085	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	18065521	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in angiogenesis	IEP IEP: 通过表达模式推断	16882943	GOA
involved in blood vessel endothelial cell migration	IEP IEP: 通过表达模式推断	16882943	GOA
involved in establishment of endothelial barrier	IMP IMP: 通过突变表型推断	18065521	GOA
involved in hair cycle process	IMP IMP: 通过突变表型推断	12740761	GOA
involved in lymphangiogenesis	IMP IMP: 通过突变表型推断	12740761	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	22292085	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	18065521	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromatin	IDA IDA: 通过直接分析推断	22292085	GOA
located in nucleus	IDA IDA: 通过直接分析推断	18065521	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SOX18 蛋白结构

HMG_box

Sox17_18_mid

0
100
200
300
384 a.a.

蛋白主名

其他名称

transcription factor SOX-18

SRY (sex determining region Y)-box 18

SOX18 抗体

目录号	产品名	应用	反应物种
HY-P80333	SOX18 Antibody (YA067)	WB	Human, Mouse, Rat

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-116940	Sm4	Inhibitor	99.37%	否
HY-RS20494	Sox18 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS13590	SOX18 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS27002	Sox18 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

SOX18 - SRY-box transcription factor 18 Gene

关于 SOX18

功能概要

SOX18 基因产物(1)

SOX18 蛋白结构

SOX18 抗体

关联疾病

直系同源

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SOX18 - SRY-box transcription factor 18 Gene

关于 SOX18

功能概要

SOX18 基因产物(1)

SOX18 蛋白结构

SOX18 抗体

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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