AKAP14 (A-kinase anchoring protein 14)

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Gene Gene information from NCBI Gene database.
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Entrez ID 158798
Gene name A-kinase anchoring protein 14
Gene symbol AKAP14
Synonyms (NCBI Gene)
AKAP28PRKA14
Chromosome X
Chromosome location Xq24
Summary The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene
miRNA miRNA information provided by mirtarbase database.
4
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miRTarBase ID miRNA Experiments Reference
MIRT775761 hsa-miR-122 CLIP-seq
MIRT775762 hsa-miR-1287 CLIP-seq
MIRT775763 hsa-miR-3135b CLIP-seq
MIRT775764 hsa-miR-3545-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12475942, 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005930 Component Axoneme IDA 12475942
GO:0005952 Component CAMP-dependent protein kinase complex IBA
GO:0005952 Component CAMP-dependent protein kinase complex IMP 12475942
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
300462 24061 ENSG00000186471
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.
Q86UN6
Protein name A-kinase anchor protein 14 (AKAP-14) (A-kinase anchor protein 28 kDa) (AKAP 28) (Protein kinase A-anchoring protein 14) (PRKA14)
Protein function Binds to type II regulatory subunits of protein kinase A and anchors/targets them.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14469 AKAP28 67 → 187 28 kDa A-kinase anchor Family
Tissue specificity TISSUE SPECIFICITY: Present in cilia (at protein level). Expressed in tissues containing axoneme-based organelles (cilia and/or flagella): trachea and testis. Highly expressed in airway cilia. {ECO:0000269|PubMed:12475942}.
Sequence 
MSETQNSTSQKAMDEDNKAASQTMPNTQDKNYEDELTQVALALVEDVINYAVKIVEEERN
PLKNIKWMTHGEFTVEKGLKQIDEYFSKCVSKKCWAHGVEFVERKDLIHSFLYIYYVHWS
ISTADLPVARISAGTYFTMKVSKTKPPDAPIVVSYVGDHQALVHRPGMVRFRENWQKNLT
DAKYSFMESFPFLFNRV
Sequence length 197
Interactions View interactions
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
AKAP14-related disorder Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations

No strongly related genes found yet for AKAP14.

No additional diseases found yet through genes similar to AKAP14.