Gene Gene information from NCBI Gene database.
Entrez ID 64359
Gene name Nucleoredoxin
Gene symbol NXN
Synonyms (NCBI Gene)
NRXRRS2TRG-4
Chromosome 17
Chromosome location 17p13.3
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 an
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1555607285 TCC>- Likely-pathogenic, pathogenic Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1555610590 G>A Likely-pathogenic, pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
492
miRTarBase ID miRNA Experiments Reference
MIRT001611 hsa-let-7b-5p pSILAC 18668040
MIRT022572 hsa-miR-124-3p Microarray 18668037
MIRT023721 hsa-miR-1-3p Proteomics 18668040
MIRT001611 hsa-let-7b-5p Proteomics;Other 18668040
MIRT049102 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0004791 Function Thioredoxin-disulfide reductase (NADPH) activity IBA
GO:0004791 Function Thioredoxin-disulfide reductase (NADPH) activity IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612895 18008 ENSG00000167693
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6DKJ4
Protein name Nucleoredoxin (EC 1.8.1.8)
Protein function Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13905 Thioredoxin_8 30 145 Thioredoxin-like Domain
PF13905 Thioredoxin_8 193 287 Thioredoxin-like Domain
PF13848 Thioredoxin_6 307 424 Domain
Sequence
Sequence length 435
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
41
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Distal shortening of limbs Likely pathogenic rs1555610590 RCV000577895
Robinow syndrome, autosomal recessive 2 Pathogenic; Likely pathogenic rs1555607285, rs1555610590, rs1912687309 RCV000791461
RCV000791460
RCV001265651
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs77578715, rs78598486, rs368050513 RCV005914584
RCV005921976
RCV005926114
Cholangiocarcinoma Benign rs78598486 RCV005921980
Familial cancer of breast Benign rs77578715 RCV005914582
Gastric cancer Benign rs77578715, rs78598486 RCV005914586
RCV005921978
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 35406633
Carcinoma Hepatocellular Inhibit 35927236
Neoplasm Metastasis Inhibit 35927236
Neoplastic Syndromes Hereditary Associate 32700628
Robinow Syndrome Associate 33048444
Wilms Tumor Associate 35578692