AKAP7 (A-kinase anchoring protein 7)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 9465 |
| Gene name | A-kinase anchoring protein 7 |
| Gene symbol | AKAP7 |
| Synonyms (NCBI Gene) |
AKAP15AKAP18
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| Chromosome | 6 |
| Chromosome location | 6q23.2 |
| Summary | This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartment |
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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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O43687 | |||||||||||||||
| Protein name | A-kinase anchor protein 7 isoforms alpha and beta (AKAP-7 isoforms alpha and beta) (A-kinase anchor protein 18 kDa) (AKAP 18) (Protein kinase A-anchoring protein 7 isoforms alpha/beta) (PRKA7 isoforms alpha/beta) | |||||||||||||||
| Protein function | Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic f | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in brain, heart, lung, pancreas and skeletal muscle. {ECO:0000269|PubMed:9545239}. | |||||||||||||||
| Sequence |
MGQLCCFPFSRDEGKISELESSSSAVLQRYSKDIPSWSSGEKNGGEPDDAELVRLSKRLV |
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| Sequence length | 104 | |||||||||||||||
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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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Q9P0M2 | |||||||||||||||
| Protein name | A-kinase anchor protein 7 isoform gamma (AKAP-7 isoform gamma) (A-kinase anchor protein 18 kDa) (AKAP 18) (Protein kinase A-anchoring protein 7 isoform gamma) (PRKA7 isoform gamma) | |||||||||||||||
| Protein function | Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free cytoplasmic form may negatively regulate E | |||||||||||||||
| PDB | 4ZP3 , 5JJ2 | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in brain, heart, lung, pancreas and placenta. {ECO:0000269|PubMed:10613906}. | |||||||||||||||
| Sequence |
MERPEAGGINSNECENVSRKKKMSEEFEANTMDSLVDMPFATVDIQDDCGITDEPQINLK |
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| Sequence length | 348 | |||||||||||||||
| 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 AKAP7 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to AKAP7 (see Related Genes above), that are NOT already directly curated for AKAP7 itself -- a lead worth checking, not a confirmed association.
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