Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64359
Gene name Gene Name - the full gene name approved by the HGNC.
Nucleoredoxin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NXN
Synonyms (NCBI Gene) Gene synonyms aliases
NRX, RRS2, TRG-4
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612895 18008 ENSG00000167693
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Robinow Syndrome Robinow syndrome, autosomal recessive 2 rs1555607285, rs1555610590 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer specific mortality in estrogen receptor positive breast cancer N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease 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