NDFIP2 (Nedd4 family interacting protein 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 54602 |
| Gene name | Nedd4 family interacting protein 2 |
| Gene symbol | NDFIP2 |
| Synonyms (NCBI Gene) |
N4WBP5A
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| Chromosome | 13 |
| Chromosome location | 13q31.1 |
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miRNA
miRNA information provided by mirtarbase database.
224
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9NV92 | |
| Protein name | NEDD4 family-interacting protein 2 (NEDD4 WW domain-binding protein 5A) (Putative MAPK-activating protein PM04/PM05/PM06/PM07) (Putative NF-kappa-B-activating protein 413) | |
| Protein function | Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD | |
| Family and domains | ||
| Tissue specificity | TISSUE SPECIFICITY: Expressed in brain, lung, heart, skeletal muscle, kidney, liver and placenta. {ECO:0000269|PubMed:12796489}. | |
| Sequence |
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| Sequence length | 336 | |
| Interactions | View interactions | |
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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