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  2. EDAR - ectodysplasin A receptor Gene

EDAR - ectodysplasin A receptor Gene

中文名称:胞外发育不良 A 受体

种属: Homo sapiens

同用名: DL; ED3; ED5; ED1R; EDA3; HRM1; EDA1R; ECTD10A; ECTD10B; EDA-A1R

基因 ID: 10913 | 基因类型: protein coding

关于 EDAR

Cytogenetic location: 2q13 Genomic coordinates (GRCh38): 2:108,894,471-108,989,220 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 9 phenotypes. Broad expression in esophagus (RPKM 1.4), lymph node (RPKM 0.8) and 18 other tissues.

功能概要

该基因编码肿瘤坏死因子受体家族的一个成员。编码的跨膜蛋白是可溶性配体 ectodysplasin A 的受体,可以激活核因子-kappaB、JNK 和不依赖半胱天冬酶的细胞死亡途径。它是头发、牙齿和其他外胚层衍生物发育所必需的。该基因的突变导致常染色体显性和隐性形式的少汗性外胚层发育不良。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and Other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

EDAR 基因产物(1)

mRNA Protein Name
NM_022336.4 NP_071731.1 tumor necrosis factor receptor superfamily member EDAR precursor
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 protein binding IPI
IPI: 通过物理相互作用推断
11039935 GOA
enables transmembrane signaling receptor activity 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
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

EDAR 蛋白结构

Death

Death: Death domain (369 - 430)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 448 a.a.
蛋白主名 其他名称

tumor necrosis factor receptor superfamily member EDAR

EDA-A1 receptor

重组 EDAR 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75262 EDAR Protein, Human (HEK293, His) Q9UNE0-1 (E27-I189) ≥95%
HY-P75263 EDAR Protein, Human (HEK293, Fc) Q9UNE0-1 (E27-I189) ≥95%

关联疾病

疾病名称 别名
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

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

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

Hair Morphology 1

Hair Morphology 1, Hair Thickness

HRM1

Hair Thickness, Variation In

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome

Alpers-Huttenlocher Syndrome

Alpers Progressive Infantile Poliodystrophy

Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis

Alpers Disease

Progressive Sclerosing Poliodystrophy

Pndc

Diffuse Cerebral Sclerosis Of Schilder

MTDPS4A

Neuronal Degeneration Of Childhood With Liver Disease, Progressive

Alper'S Syndrome

Alpers' Disease Or Gray-Matter Degeneration

Diffuse Cerebral Degeneration In Infancy

Infantile Poliodystrophy

Poliodystrophia Cerebri Progressiva

Progressive Cerebral Poliodystrophy

Alpers' Disease

Alpers Progressive Sclerosing Poliodystrophy

Progressive Neuronal Degeneration Of Childhood With Liver Disease

Ahs

Mitochondrial Dna Depletion Syndrome 4a Alpers Type

Neuronal Degeneration Of Childhood With Liver Disease Progressive

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mngie Syndrome

Thymidine Phosphorylase Deficiency

MTDPS4B

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Mngie

Myoneurogastrointestinal Encephalopathy Syndrome

Ogimd

Oculogastrointestinal Muscular Dystrophy

Polip

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

Mngie, Polg-Related

Mepop

Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction

Mngie Disease

Mitochondrial Dna Depletion Syndrome 4b Mngie Type

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

Mngie Polg-Related

Mitochondrial Dna Depletion Syndrome, Type 4b

Visceral Myopathy Familial External Ophthalmoplegia

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

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 10b

Ectd10b

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

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

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

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

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

Pompholyx

Dyshidrosis

Vesicular Eczema Of Hands And/Or Feet

Cheiropompholyx

Dyshydrotic Eczema

Eczema, Dyshidrotic

Vesicular Hand Eczema

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

Sweat Gland Disease

Sweat Gland Diseases

Hypotrichosis
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

Anhidrosis

Hypohidrosis

Absence Of Sweating

Adiaphoresis

Impaired Sweating

Oligohidrosis

Immunodeficiency 57 With Autoinflammation

Immunodeficiency 57

IMD57

Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome

Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary

Miliaria Profunda

Icd10cm:L74.2

Snomedct_us_2020_03_01:47317002

Leiomyomatosis
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

Hair Disease

Hair Diseases

Hair Anomaly

Hair Disorder

Hair Problems

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Orofacial Cleft

Cleft, Orofacial

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus EDAR RGD RGD:1561714
Bos taurus EDAR VGNC VGNC:28318
Mus musculus EDAR MGD MGI:1343498
Canis familiaris EDAR VGNC VGNC:40190
Felis catus EDAR VGNC VGNC:61719
Macaca mulatta EDAR VGNC VGNC:72133
Macaca fascicularis EDAR NCBI NCBI:102120238
Others EDAR NCBI