SNX22 (sorting nexin 22)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 79856 |
| Gene name | Sorting nexin 22 |
| Gene symbol | SNX22 |
| Synonyms (NCBI Gene) |
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| Chromosome | 15 |
| Chromosome location | 15q22.31 |
| Summary | The protein encoded by this gene is a sorting nexin that is found in the cytoplasm, where it interacts with membrane-bound phosphatidylinositol 3-phosphate. The encoded protein may play a role in intracellular trafficking. Two transcript variants, one pro |
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miRNA
miRNA information provided by mirtarbase database.
428
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
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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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Q96L94 | ||||||||||
| Protein name | Sorting nexin-22 | ||||||||||
| Protein function | May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:17400918). | ||||||||||
| PDB | 2ETT | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in erythrocytes (at protein level). {ECO:0000269|PubMed:32356940}. | ||||||||||
| Sequence |
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| Sequence length | 193 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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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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