GJB7 (gap junction protein beta 7)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 375519 |
| Gene name | Gap junction protein beta 7 |
| Gene symbol | GJB7 |
| Synonyms (NCBI Gene) |
CX25bA136M9.1connexin25
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| Chromosome | 6 |
| Chromosome location | 6q14.3-q15 |
| Summary | Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin s |
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miRNA
miRNA information provided by mirtarbase database.
422
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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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Q6PEY0 | |||||||||||||||
| Protein name | Gap junction beta-7 protein (Connexin-25) (Cx25) | |||||||||||||||
| Protein function | One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Weakly expressed in placenta. {ECO:0000269|PubMed:12881038}. | |||||||||||||||
| Sequence |
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| Sequence length | 223 | |||||||||||||||
| 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.).
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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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