STOM (stomatin)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 2040 |
| Gene name | Stomatin |
| Gene symbol | STOM |
| Synonyms (NCBI Gene) |
BND7EPB7EPB72
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| Chromosome | 9 |
| Chromosome location | 9q33.2 |
| Summary | This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of |
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miRNA
miRNA information provided by mirtarbase database.
737
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
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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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P27105 | ||||||||||
| Protein name | Stomatin (Erythrocyte band 7 integral membrane protein) (Erythrocyte membrane protein band 7.2) (Protein 7.2b) | ||||||||||
| Protein function | Regulates ion channel activity and transmembrane ion transport. Regulates ASIC2 and ASIC3 channel activity. | ||||||||||
| PDB | 7WH3 | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Detected in erythrocytes (at protein level). Widely expressed. {ECO:0000269|PubMed:1547348, ECO:0000269|PubMed:23219802}. | ||||||||||
| Sequence |
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| Sequence length | 288 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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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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