Gene
nxn
- ID
- ZDB-GENE-050522-75
- Name
- nucleoredoxin
- Symbol
- nxn Nomenclature History
- Previous Names
-
- ns:zf-es94
- zgc:110449
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable thioredoxin-disulfide reductase (NADPH) activity. Predicted to be involved in circulatory system development; negative regulation of Wnt signaling pathway; and negative regulation of protein ubiquitination. Predicted to act upstream of or within Wnt signaling pathway and cell differentiation. Predicted to be located in cytosol. Predicted to be active in nucleus. Is expressed in several structures, including basal plate midbrain region; brain; immature eye; lens; and neural plate. Human ortholog(s) of this gene implicated in autosomal recessive Robinow syndrome 2. Orthologous to human NXN (nucleoredoxin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110449 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la012674Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la019168Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa16536 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa35837 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive Robinow syndrome 2 | Alliance | Robinow syndrome, autosomal recessive 2 | 618529 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Thioredoxin domain | Thioredoxin-like fold | Thioredoxin-like superfamily | TryX and NRX, thioredoxin domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q503L9 | InterPro | 418 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-259G3 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-179C2 | ZFIN Curated Data | |
| Contains | SNP | rs3728701 | ZFIN Curated Data | |
| Contains | SNP | rs3728702 | ZFIN Curated Data | |
| Contains | SNP | rs3728703 | ZFIN Curated Data | |
| Encodes | EST | zf-es94 | Woods et al., 2005 | |
| Encodes | cDNA | MGC:110449 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001020595 (1) | 2231 nt | ||
| Genomic | GenBank:AL954372 (2) | 162539 nt | ||
| Polypeptide | UniProtKB:Q503L9 (1) | 418 aa |