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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Distal shortening of limbs Likely pathogenic rs1555610590 RCV000577895
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Robinow syndrome, autosomal recessive 2 Pathogenic; Likely pathogenic rs1555607285, rs1555610590, rs1912687309 RCV000791461
RCV000791460
RCV001265651
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE ROBINOW SYNDROME Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 24836286, 26965516, 30510241, 31089142
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35406633 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ankyloglossia Ankyloglossia HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal recessive Robinow syndrome Robinow Syndrome Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bicuspid aortic valve Bicuspid aortic valve HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly HPO_DG
★☆☆☆☆
Found in Text Mining only