BPESC1 (blepharophimosis, epicanthus inversus and ptosis candidate 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 60467 |
| Gene name | Blepharophimosis, epicanthus inversus and ptosis candidate 1 |
| Gene symbol | BPESC1 |
| Synonyms (NCBI Gene) |
NCRNA00187
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| Chromosome | 3 |
| Chromosome location | 3q23 |
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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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Q9GZL8 |
| Protein name | Putative BPES syndrome breakpoint region protein (BPES candidate 1) |
| Family and domains | |
| Tissue specificity | TISSUE SPECIFICITY: Seems to be expressed only in testis. |
| Sequence |
MGGRDQITNLGSEGETHPWGYSSPPYPLHTFFIPFLPSGFGGSGLGIPSDNEKHDLQDCV |
| Sequence length | 116 |
| Interactions | View interactions |
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Related Genes
Genes most often co-reported with BPESC1 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to BPESC1 (see Related Genes above), that are NOT already directly curated for BPESC1 itself -- a lead worth checking, not a confirmed association.
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