ERGIC3 (ERGIC and golgi 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 51614 |
| Gene name | ERGIC and golgi 3 |
| Gene symbol | ERGIC3 |
| Synonyms (NCBI Gene) |
C20orf47C2orf47CGI-54Erv46NY-BR-84PRO0989SDBCAG84dJ477O4.2
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| Chromosome | 20 |
| Chromosome location | 20q11.22 |
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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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Q9Y282 | |||||||||||||||
| Protein name | Endoplasmic reticulum-Golgi intermediate compartment protein 3 (Serologically defined breast cancer antigen NY-BR-84) | |||||||||||||||
| Protein function | Possible role in transport between endoplasmic reticulum and Golgi. Positively regulates trafficking of the secretory proteins SERPINA1/alpha1-antitrypsin and HP/haptoglobin (PubMed:31142615). | |||||||||||||||
| Family and domains |
Pfam
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| Sequence |
MEALGKLKQFDAYPKTLEDFRVKTCGGATVTIVSGLLMLLLFLSELQYYLTTEVHPELYV |
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| Sequence length | 383 | |||||||||||||||
| 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 ERGIC3 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to ERGIC3 (see Related Genes above), that are NOT already directly curated for ERGIC3 itself -- a lead worth checking, not a confirmed association.
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