SESTD1 (SEC14 and spectrin domain containing 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 91404 |
| Gene name | SEC14 and spectrin domain containing 1 |
| Gene symbol | SESTD1 |
| Synonyms (NCBI Gene) |
Solo
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| Chromosome | 2 |
| Chromosome location | 2q31.2 |
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miRNA
miRNA information provided by mirtarbase database.
846
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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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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Q86VW0 | ||||||||||
| Protein name | SEC14 domain and spectrin repeat-containing protein 1 (Huntingtin-interacting protein-like protein) (Protein Solo) | ||||||||||
| Protein function | May act as the primary docking protein directing membrane turnover and assembly of the transient receptor potential channels TRPC4 and TRPC5. Binds phospholipids such as phosphatidylinositol monophosphates, phosphatidylinositol diphosphates (PIP | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Broad expression. High expression in thalamus and brain. Significantly expressed in vasculature. {ECO:0000269|PubMed:20164195}. | ||||||||||
| Sequence |
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| Sequence length | 696 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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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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