EDARADD - EDAR associated death domain Gene

中文名称：EDAR 相关死亡域

种属: Homo sapiens

同用名: ED3; EDA3; ECTD11A; ECTD11B

基因 ID: 128178 | 基因类型: protein coding

关于 EDARADD

Cytogenetic location: 1q42.3-q43 Genomic coordinates (GRCh38): 1:236,394,286-236,484,930 (from NCBI)

This gene has 5 transcripts (splice variants), 88 orthologues and is associated with 7 phenotypes. Ubiquitous expression in urinary bladder (RPKM 9.3), kidney (RPKM 6.2) and 25 other tissues.

功能概要

该基因与外胚层发育不良有关，这是一种遗传性疾病，其特征是毛发、牙齿和汗腺的发育缺陷。由该基因编码的蛋白质是一种含有死亡结构域的蛋白质，被发现与 EDAR 相互作用，EDAR 是一种已知的死亡结构域受体，是毛发、牙齿和其他外胚层衍生物发育所必需的。这种蛋白质和 EDAR 在毛囊和牙齿形成过程中在上皮细胞中共表达。通过与 EDAR 的相互作用，这种蛋白质充当衔接子，并将受体连接到下游信号通路。已经报道了编码不同亚型的该基因的两个选择性剪接的转录物变体。[RefSeq 提供，2008 年 7 月]

This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

EDARADD 基因产物(2)

mRNA	Protein	Name
NM_080738.4	NP_542776.1	ectodysplasin-A receptor-associated adapter protein isoform B
NM_145861.4	NP_665860.2	ectodysplasin-A receptor-associated adapter protein isoform A

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	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

EDARADD 蛋白结构

Death

0
100
200
215 a.a.

蛋白主名

其他名称

ectodysplasin-A receptor-associated adapter protein

EDAR-associated death domain protein

EDARADD 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	EDARADD	Q8WWZ3	SUMO1P1	Homo sapiens	G2XKQ0	Y2H Prey Pooling	25416956
Intra	EDARADD	Q8WWZ3	SUMO1P1	Homo sapiens	G2XKQ0	Validated Y2H	25416956
Intra	EDARADD	Q8WWZ3	SUMO1P1	Homo sapiens	G2XKQ0	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	RNF111	Homo sapiens	Q6ZNA4	Validated Y2H	25416956
Intra	EDARADD	Q8WWZ3	RNF111	Homo sapiens	Q6ZNA4	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	TRAF6	Homo sapiens	Q9Y4K3	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	SHPRH	Homo sapiens	Q149N8	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	25416956
Intra	EDARADD	Q8WWZ3	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	EDARADD	Q8WWZ3	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	EDARADD	Q8WWZ3	SUMO1	Homo sapiens	P63165	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	UBE2I	Homo sapiens	P63279	Validated Y2H	25416956
Intra	EDARADD	Q8WWZ3	UBE2I	Homo sapiens	P63279	Y2H Array	25416956

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 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive

ECTD11B	Hed
Eda	Ectodermal Dysplasia 11b
Ectodermal Dysplasia, Hypohidrotic	Ectodermal Dysplasia, Anhidrotic
Ectodermal Dysplasia Anhidrotic	Ectodermal Dysplasia Hypohidrotic Autosomal Recessive
Dysplasia, Ectodermal, Type 11b, Hypohidrotic/Hair/Tooth, Autosomal Recessive	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Ectodermal Dysplasia 11a, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant

ECTD11A	Hed
Ectodermal Dysplasia 11a	Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant
Ectodermal Dysplasia 11a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ectodermal Dysplasia Hypohidrotic Autosomal Dominant
Dysplasia, Ectodermal, Type 11a, Hypohidrotic/Hair/Tooth, Autosomal Dominant

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

Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Anhidrotic Ectodermal Dysplasia, Autosomal Recessive	Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Ar-Hed	Autosomal Recessive Anhidrotic Ectodermal Dysplasia
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Tooth Agenesis

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

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

Ectodermal Dysplasia

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

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

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 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

Sweat Gland Disease

Sweat Gland Diseases

Ectodermal Dysplasia 10b

Ectd10b

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

Combined Oxidative Phosphorylation Deficiency 5

COXPD5	Hypotonia With Lactic Acidemia And Hyperammonemia
Combined Oxidative Phosphorylation Defect Type 5	Combined Oxidative Phosphorylation Deficiency, Type 5

Hypotrichosis

Miliaria Profunda

Icd10cm:L74.2

Snomedct_us_2020_03_01:47317002

Anhidrosis

Hypohidrosis	Absence Of Sweating
Adiaphoresis	Impaired Sweating
Oligohidrosis

Pompholyx

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

Gapo Syndrome

GAPOS	Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy
Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome	Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy

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

Atrophic Rhinitis

Rhinitis, Atrophic	Ozena
Rhinitis Sicca	Dry Rhinitis
Ozaena

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-RS04154	EDARADD Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	EDARADD	VGNC	VGNC:40191
Bos taurus	EDARADD	VGNC	VGNC:28319
Macaca mulatta	EDARADD	VGNC	VGNC:72043
Rattus norvegicus	EDARADD	RGD	RGD:1564010
Mus musculus	EDARADD	MGD	MGI:1931001

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