1. Gene
  2. NXN - nucleoredoxin Gene

NXN - nucleoredoxin Gene

中文名称:核氧还蛋白

种属: Homo sapiens

同用名: NRX; RRS2; TRG-4

基因 ID: 64359 | 基因类型: protein coding

关于 NXN

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:799,310-979,776 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 140 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in endometrium (RPKM 8.8), prostate (RPKM 6.7) and 24 other tissues.

功能概要

该基因编码硫氧还蛋白超家族的一个成员,硫氧还蛋白超家族是一组小型多功能氧化还原活性蛋白。该家族成员的特征在于称为硫氧还蛋白折叠的保守活性基序,可催化二硫键形成和异构化。编码的蛋白质充当 Wnt 信号通路的氧化还原依赖性调节剂,并参与细胞生长和分化。[RefSeq 提供,2015 年 9 月]

This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]

NXN 基因产物(2)

mRNA Protein Name
NM_001205319.1 NP_001192248.1 nucleoredoxin isoform 2
NM_022463.5 NP_071908.2 nucleoredoxin isoform 1
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Wnt signaling pathway IMP
IMP: 通过突变表型推断
29276006 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

NXN 蛋白结构

Thioredoxin_8

Thioredoxin_8: Thioredoxin-like (33 - 145)

Thioredoxin_8

Thioredoxin_8: Thioredoxin-like (196 - 287)

Thioredoxin_6

Thioredoxin_6: Thioredoxin-like domain (311 - 424)

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

nucleoredoxin

nucleoredoxin 1

关联疾病

疾病名称 别名
Robinow Syndrome, Autosomal Recessive 2

RRS2

Robinow, Autosomal Recessive Syndrome, Type 2

Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1

Robinow Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Costovertebral Segmentation Defect With Mesomelia

Covesdem Syndrome

Robinow'S Syndrome

Robinow-Silverman Syndrome

Omodysplasia 2

OMOD2

Omodysplasia, Autosomal Dominant

Autosomal Dominant Omodysplasia

Omodysplasia Type 2

Omodysplasia, Type 2

Robinow Syndrome, Autosomal Dominant 3

Autosomal Dominant Robinow Syndrome 3

DRS3

Robinow, Autosomal Dominant Syndrome, Type 3

Omodysplasia 1

OMOD1

Autosomal Recessive Omodysplasia

Omodysplasia Autosomal Recessive

Omodysplasia Generalized Form

Omodysplasia Type 1

Omodysplasia, Generalized Form

Omodysplasia, Autosomal Recessive

Micromelic Dysplasia, Congenital, With Dislocation Of Radius

Micromelic Dysplasia Congenita With Dislocation Of Radius

Micromelic Dysplasia-Dislocation Of Radius Syndrome

Micromelic Dysplasia Congenital With Dislocation Of Radius

Omodysplasia, Type 1

Vulvitis

Vulvitis Nos

Inflammation Of Vulva

Edeitis

Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR

Alacrima, Achalasia, And Intellectual Disability Syndrome

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

Intellectual Disability

Brachydactyly
Omodysplasia

Omodysplasia Type 1

Omodysplasia 2

Scoliosis
Polycystic Liver Disease

Autosomal Dominant Polycystic Liver Disease

Isolated Polycystic Liver Disease

Pcld

Congenital Cystic Liver Disease

Congenital Hepatic Cyst

Fibrocystic Liver Disease

Isolated Autosomal Dominant Polycystic Liver Disease

Adpcld

Liver Disease, Polycystic

Multiple Cysts Of Liver

Pld - [Polycystic Liver Disease]

Polycystic Liver Disorder

Polycystic Liver

Congenital Polycystic Disease Of Liver

Congenital Polycystic Liver Disease

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 NXN RGD RGD:1310489
Canis familiaris NXN VGNC VGNC:44073
Bos taurus NXN VGNC VGNC:32376
Mus musculus NXN MGD MGI:109331
Macaca mulatta NXN VGNC VGNC:75427
Felis catus NXN VGNC VGNC:63935