2. Gene
  3. EDA2R - ectodysplasin A2 receptor Gene

EDA2R - ectodysplasin A2 receptor Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：胞外发育不良 A2 受体

种属: Homo sapiens

同用名: XEDAR; EDAA2R; EDA-A2R; TNFRSF27

基因 ID: 60401 | 基因类型: protein coding

关于 EDA2R

Cytogenetic location: Xq12 Genomic coordinates (GRCh38): X:66,595,637-66,639,269 (from NCBI)

This gene has 4 transcripts (splice variants), 134 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 3.4), ovary (RPKM 3.3) and 22 other tissues.

功能概要

该基因编码的蛋白质是 TNFR (肿瘤坏死因子受体) 超家族的 III 型跨膜蛋白，包含富含半胱氨酸的重复序列和单个跨膜结构域。这种蛋白质与 ectodysplasin 的 EDA-A2 亚型结合，后者在维护头发和牙齿方面起着重要作用。可变剪接的转录本变体编码不同的蛋白质亚型。[RefSeq 提供，2016 年 4 月]

The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]

EDA2R 基因产物(9)

mRNA Protein Name
NM_001199687.3 NP_001186616.2 tumor necrosis factor receptor superfamily member 27 isoform 1
NM_001242310.1 NP_001229239.1 tumor necrosis factor receptor superfamily member 27 isoform 2
NM_001324199.2 NP_001311128.2 tumor necrosis factor receptor superfamily member 27 isoform 3
NM_001324201.2 NP_001311130.2 tumor necrosis factor receptor superfamily member 27 isoform 4
NM_001324202.2 NP_001311131.2 tumor necrosis factor receptor superfamily member 27 isoform 5
NM_001324204.2 NP_001311133.2 tumor necrosis factor receptor superfamily member 27 isoform 6
NM_001324205.2 NP_001311134.2 tumor necrosis factor receptor superfamily member 27 isoform 7
NM_001324206.2 NP_001311135.2 tumor necrosis factor receptor superfamily member 27 isoform 8
NM_021783.5 NP_068555.2 tumor necrosis factor receptor superfamily member 27 isoform 1

EDA2R 蛋白结构

TNFR_c6

TNFR_c6: TNFR/NGFR cysteine-rich region (3 - 32)

TNFR_c6

TNFR_c6: TNFR/NGFR cysteine-rich region (44 - 83)

  • 0
  • 100
  • 200
  • 297 a.a.
蛋白主名 其他名称

tumor necrosis factor receptor superfamily member 27

EDA-A2 receptor

重组 EDA2R 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75727 EDA2R/XEDAR Protein, Human (HEK293, Fc) Q9HAV5 (M1-E136) ≥95%
HY-P75728 EDA2R/XEDAR Protein, Human (HEK293, His) Q9HAV5 (M1-T138) ≥95%

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
Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal
Ectodermal Dysplasia 10b

Ectd10b

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

Androgenetic Alopecia

Alopecia Androgenetica, Male Pattern Baldness
Megabladder, Congenital

MGBL

Congenital Megabladder
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
Myopathy, Congenital, Compton-North

Compton-North Congenital Myopathy

MYPCN

Congenital Lethal Myopathy, Compton-North Type
Alopecia
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 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
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
Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04152 EDA2R Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus EDA2R VGNC VGNC:28317
Felis catus EDA2R VGNC VGNC:61718
Rattus norvegicus EDA2R RGD RGD:1564025
Mus musculus EDA2R MGD MGI:2442860
Macaca mulatta EDA2R VGNC VGNC:72062
Macaca fascicularis EDA2R NCBI
Others EDA2R NCBI
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