TMEM100 (transmembrane protein 100)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 55273 |
| Gene name | Transmembrane protein 100 |
| Gene symbol | TMEM100 |
| Synonyms (NCBI Gene) |
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| Chromosome | 17 |
| Chromosome location | 17q22 |
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miRNA
miRNA information provided by mirtarbase database.
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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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Q9NV29 | ||||||||||
| Protein name | Transmembrane protein 100 | ||||||||||
| Protein function | Plays a role during embryonic arterial endothelium differentiation and vascular morphogenesis through the ACVRL1 receptor-dependent signaling pathway upon stimulation by bone morphogenetic proteins, such as GDF2/BMP9 and BMP10. Involved in the r | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in neurons of the myenteric and submucosal plexuses in the gastric body, jejunum and proximal colon. Expressed in arterial endothelial cells and neurons of the central nervous system and peripheral nervous system. Expressed i | ||||||||||
| Sequence | |||||||||||
| Sequence length | 134 | ||||||||||
| 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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Related Genes
Genes most often co-reported with TMEM100 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to TMEM100 (see Related Genes above), that are NOT already directly curated for TMEM100 itself -- a lead worth checking, not a confirmed association.
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