EDA - ectodysplasin A Gene

中文名称：胞外发育不良 A

种属: Homo sapiens

同用名: ED1; HED; EDA1; EDA2; HED1; ODT1; XHED; ECTD1; XLHED; ED1-A1; ED1-A2; EDA-A1; EDA-A2; TNLG7C; STHAGX1

基因 ID: 1896 | 基因类型: protein coding

关于 EDA

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:69,616,113-70,039,472 (from NCBI)

This gene has 13 transcripts (splice variants), 203 orthologues, 37 paralogues and is associated with 7 phenotypes. Broad expression in adrenal (RPKM 1.8), thyroid (RPKM 1.7) and 24 other tissues.

功能概要

该基因编码的蛋白质是一种 II 型膜蛋白，可被弗林蛋白酶切割以产生分泌形式。编码的蛋白质属于肿瘤坏死因子家族，作为同源三聚体，可能参与外胚层器官发育过程中的细胞间信号传导。该基因的缺陷是外胚层发育不良，无汗症的原因，也称为 X 连锁少汗性外胚层发育不良。已发现该基因的几种转录变体编码许多不同的亚型。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a type II membrane protein that can be cleaved by Furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EDA 基因产物(5)

mRNA	Protein	Name
NM_001005609.2	NP_001005609.1	ectodysplasin-A isoform 2
NM_001005610.4	NP_001005610.2	ectodysplasin-A isoform 3
NM_001005612.3	NP_001005612.2	ectodysplasin-A isoform 5
NM_001005613.4	NP_001005613.1	ectodysplasin-A isoform 6
NM_001399.5	NP_001390.1	ectodysplasin-A isoform 1

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cytokine activity	IDA IDA: 通过直接分析推断	11039935	GOA
enables death receptor agonist activity	IMP IMP: 通过突变表型推断	27144394	GOA
enables death receptor binding	IDA IDA: 通过直接分析推断	27144394	GOA
enables death receptor binding	IPI IPI: 通过物理相互作用推断	27144394	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11039935	GOA
enables signaling receptor binding	IDA IDA: 通过直接分析推断	11039935	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cytokine-mediated signaling pathway	IDA IDA: 通过直接分析推断	11039935	GOA
involved in cytokine-mediated signaling pathway	IMP IMP: 通过突变表型推断	27144394	GOA
involved in odontogenesis of dentin-containing tooth	IMP IMP: 通过突变表型推断	27144394	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IDA IDA: 通过直接分析推断	11039935	GOA
involved in regulation of non-canonical NF-kappaB signal transduction	IMP IMP: 通过突变表型推断	27144394	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

EDA 蛋白结构

Collagen

TNF

0
100
200
300
391 a.a.

蛋白主名

其他名称

ectodysplasin-A

X-linked anhidroitic ectodermal dysplasia protein

EDA 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
Intra	EDA	Q92838	LEPROTL1	Homo sapiens	Q6FHL7	Validated Y2H	25416956
Intra	EDA	Q92838	LEPROTL1	Homo sapiens	Q6FHL7	Y2H Array	25416956
Intra	EDA	Q92838	LEPROTL1	Homo sapiens	Q6FHL7	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	NIPAL3	Homo sapiens	Q6P499	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	NIPAL3	Homo sapiens	Q6P499	Y2H Array	25416956
Intra	EDA	Q92838	OSTCL	Homo sapiens	Q8TBU1	Y2H Array	25416956
Intra	EDA	Q92838	OSTCL	Homo sapiens	Q8TBU1	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	SLC38A7	Homo sapiens	Q9NVC3	Validated Y2H	32296183
Intra	EDA	Q92838	OSTC	Homo sapiens	Q9NRP0	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	LPAR3	Homo sapiens	Q9UBY5	Validated Y2H	32296183
Intra	EDA	Q92838	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	EDA	Q92838	EMP3	Homo sapiens	P54852	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	MAL	Homo sapiens	P21145	Y2H Array	25416956
Intra	EDA	Q92838	GIMAP5	Homo sapiens	Q96F15	Validated Y2H	32296183
Intra	EDA	Q92838	GIMAP5	Homo sapiens	Q96F15	Y2H Array	25416956
Intra	EDA	Q92838	PLN	Homo sapiens	P26678	Validated Y2H	25416956
Intra	EDA	Q92838	ATP6V0C	Homo sapiens	P27449	Y2H Array	25416956
Intra	EDA	Q92838	DOLK	Homo sapiens	Q9UPQ8	Validated Y2H	32296183
Intra	EDA	Q92838	CYB561	Homo sapiens	P49447	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	25416956
Intra	EDA	Q92838	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Christ-Siemens-Touraine Syndrome	XHED
Ectodermal Dysplasia 1	Xlhed
Ed1	Cst Syndrome
Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked	Ectd1
Ectodermal Dysplasia, Anhidrotic, X-Linked	Eda
Eda1	Hed1
Ectodermal Dysplasia 1, Anhidrotic	X-Linked Anhidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypohidrotic X-Linked Ectodermal Dysplasia
Ectodermal Dysplasia, Hypohidrotic, 1	Hypohidrotic Ectodermal Dysplasia, X-Linked
Anhidrotic Ectodermal Dysplasia X-Linked	Hypohidrotic Ectodermal Dysplasia X-Linked
Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked	Ectodermal Dysplasia Anhidrotic

Tooth Agenesis, Selective, X-Linked, 1

STHAGX1	Tooth Agenesis, Selective, X-Linked 1
Hypodontia/Oligodontia, X-Linked, 1	Hypodontia/Oligodontia X-Linked 1

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Tooth Agenesis, Selective, 1

STHAG1	Hypodontia/Oligodontia 1
Hyd1	Tooth Agenesis, Familial
Tooth Agenesis, Selective, 1, With Or Without Orofacial Cleft	Second Premolars And Third Molars, Absence Of
Absence Of Second Premolars And Third Molars	Familial Tooth Agenesis
Hypodontia/Oligodontia With Orofacial Cleft	Selective Tooth Agenesis 1
Selective Tooth Agenesis With Orofacial Cleft

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

Hypohidrotic Ectodermal Dysplasia	Hed
Anhidrotic Ectodermal Dysplasia	Ectodermal Dysplasia, Hypohidrotic
Eda	Christ-Siemens-Touraine Syndrome
ECTD10B	Ectodermal Dysplasia Anhidrotic
Ectodermal Dysplasia, Anhidrotic	Cst Syndrome
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive	Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive
Dysplasia, Ectodermal, Hypohidrotic	Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal Dysplasia 3, Anhidrotic	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Anhidrosis

Hypohidrosis	Absence Of Sweating
Adiaphoresis	Impaired Sweating
Oligohidrosis

Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia	CFNS
Cfnd	Craniofrontonasal Dysostosis
Craniofrontonasal Dystosis	Dysplasia, Craniofrontonasal

Incontinentia Pigmenti

Bloch-Sulzberger Syndrome	IP
Incontinentia Pigmenti, Familial Male-Lethal Type	Incontinentia Pigmenti Syndrome
Bloch-Siemens Syndrome	Ip2
Incontinentia Pigmenti, Type Ii, Formerly	Ip2, Formerly
Incontinentia Pigmenti Type 2	Bloch-Siemens-Sulzberger Syndrome
Familial Incontinentia Pigmenti Male-Lethal Type	Familial Incontinentia Pigmenti Type Ii
Incontinentia Pigmenti, Type Ii	Bloch Sulzberger Syndrome
Incontinentia Pigmenti Achromians	Incontinentia Pigmenti Of Bloch-Sulzberger
Nevus Pigmentosus Systematicus

Anodontia

Complete Absence Of Teeth	Developmental Absence Of Tooth
Total Anodontia Of Permanent And Deciduous Teeth	Absence Of Permanent Teeth
Anodontia Of Permanent Dentition	Agomphiasis
Agomphosis	Anodontism
Complete Developmental Absence Of Teeth	Congenital Absence Of Teeth
Congenital Complete Absence Of Teeth	Congenital Edentia
Absence Of Teeth	Absent Teeth
Congenital Partial Absence Of Teeth	Partial Absence Of Teeth
Partial Anodontia

Hypotrichosis

Sweat Gland Disease

Sweat Gland Diseases

Ectodermal Dysplasia 10b

Ectd10b

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Nail Type, Autosomal Recessive

Toxicodendron Dermatitis

Dermatitis, Toxicodendron	Contact Dermatitis Due To Genus Toxicodendron
Rhus Dermatitis	Dermatitis Toxicodendron

Pompholyx

Dyshidrosis	Vesicular Eczema Of Hands And/Or Feet
Cheiropompholyx	Dyshydrotic Eczema
Eczema, Dyshidrotic	Vesicular Hand Eczema

Atrophic Rhinitis

Rhinitis, Atrophic	Ozena
Rhinitis Sicca	Dry Rhinitis
Ozaena

Paraurethral Gland Cancer

Malignant Tumor Of Paraurethral Gland	Malignant Tumor Of The Paraurethral Gland
Skene Gland Carcinoma	Carcinoma Of The Paraurethral Gland
Paraurethral Gland Carcinoma

Schopf-Schulz-Passarge Syndrome

SSPS	Eccrine Tumors With Ectodermal Dysplasia
Eccrine Tumors-Ectodermal Dysplasia	Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome	Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome
Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis	Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia And Hypotrichosis

Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant

ECTD10A	Hed
Ectodermal Dysplasia 10a	Ectodermal Dysplasia Hypohidrotic Autosomal Dominant
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
Hypohidrotic Ectodermal Dysplasia Autosomal Dominant	Ad-Hed
Autosomal Dominant Anhidrotic Ectodermal Dysplasia	Ectodermal Dysplasia 3
Ed3	Eda3
Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant	Dysplasia, Ectodermal, Type 10a, Hypohidrotic/Hair/Nail, Autosomal Dominant
Dysplasia, Ectodermal, Type 3

Hair Disease

Hair Diseases	Hair Anomaly
Hair Disorder	Hair Problems

Ectodermal Dysplasia 4, Hair/Nail Type

Pure Hair And Nail Ectodermal Dysplasia	ECTD4
Ectodermal Dysplasia, Pure Hair-Nail Type	Ectodermal Dysplasia, 'Pure' Hair/Nail Type
Hned	Hair-Nail Ectodermal Dysplasia
Phned	Ectodermal Dysplasia Pure Hair-Nail Type
Ectodermal Dysplasia, 'Pure' Hair-Nail Type	Dysplasia, Ectodermal, Type 4, Hair/Nail

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-N2587	Irigenin		99.84%	否
HY-130893	Biotin-EDA		97.49%	否
HY-147097A	EDA-DA TFA		≥95.0%	否
HY-126688	Mal-C2-Gly3-EDA-PNU-159682		93.43%	否
HY-D1603	BODIPY FL-EDA		99.23%	否
HY-114346A	BODIPY FL EDA free base		/	否
HY-125810	4'-Ethynyl-2'-deoxyadenosine	Inhibitor	/	否
HY-126673	Mal-C2-Gly3-EDA		/	否
HY-145078	PNU-EDA-Gly5		/	否
HY-147097	EDA-DA		/	否
HY-D1395	RH-EDA		/	否
HY-RS04151	EDA Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS04152	EDA2R Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-151829	Fmoc-L-Asn(EDA-N3)-OH		/	否
HY-151842	Fmoc-EDA-N3		/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	EDA	VGNC	VGNC:72153
Canis familiaris	EDA	VGNC	VGNC:54136
Mus musculus	EDA	MGD	MGI:1195272
Bos taurus	EDA	VGNC	VGNC:28316
Rattus norvegicus	EDA	RGD	RGD:1563178
Macaca fascicularis	EDA	NCBI	NCBI:102126767
Others	EDA	NCBI

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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）

EDA - ectodysplasin A Gene

关于 EDA

功能概要

EDA 基因产物(5)

EDA 蛋白结构

EDA 蛋白互作信息

关联疾病

直系同源

热门区域

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EDA - ectodysplasin A Gene

关于 EDA

功能概要

EDA 基因产物(5)

EDA 蛋白结构

EDA 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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