1. Gene
  2. NXN - nucleoredoxin Gene

NXN - nucleoredoxin Gene

Homo sapiens

Also known as NRX; RRS2; TRG-4

Gene ID: 64359 | Gene type: protein coding

About 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.

Summary

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 Products(2)

mRNA Protein Name
NM_001205319.1 NP_001192248.1 nucleoredoxin isoform 2
NM_022463.5 NP_071908.2 nucleoredoxin isoform 1
Gene Ontology
  • Biological Process
Biological Process GO Annotation Evidence Reference Source
involved in Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
29276006 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NXN Protein Structure

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.
Protein Preferred Names Protein Names

nucleoredoxin

nucleoredoxin 1

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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