Gene Gene information from NCBI Gene database.
Entrez ID 9495
Gene name A-kinase anchoring protein 5
Gene symbol AKAP5
Synonyms (NCBI Gene)
AKAP75AKAP79H21
Chromosome 14
Chromosome location 14q23.3
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.
465
miRTarBase ID miRNA Experiments Reference
MIRT029184 hsa-miR-26b-5p Microarray 19088304
MIRT672951 hsa-miR-605-3p HITS-CLIP 23824327
MIRT672950 hsa-miR-4493 HITS-CLIP 23824327
MIRT672949 hsa-miR-214-5p HITS-CLIP 23824327
MIRT672948 hsa-miR-6811-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 11287423, 16642035, 20410303, 20664520, 21771783, 22343722, 22976297, 26496610, 28514442, 32296183, 33941685, 33961781, 35697294
GO:0005516 Function Calmodulin binding EXP 35697294
GO:0005516 Function Calmodulin binding IEA
GO:0005768 Component Endosome IEA
GO:0005829 Component Cytosol NAS 22343722
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604688 375 ENSG00000179841
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P24588
Protein name A-kinase anchor protein 5 (AKAP-5) (A-kinase anchor protein 79 kDa) (AKAP 79) (H21) (cAMP-dependent protein kinase regulatory subunit II high affinity-binding protein)
Protein function Multivalent scaffold protein that anchors the cAMP-dependent protein kinase/PKA to cytoskeletal and/or organelle-associated proteins, targeting the signal carried by cAMP to specific intracellular effectors (PubMed:1512224). Association with the
PDB 2H9R , 3LL8 , 5NIN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03832 WSK 75 102 WSK motif Motif
Tissue specificity TISSUE SPECIFICITY: Predominantly in the cerebral cortex and the postsynaptic densities of the forebrain, and to a lesser extent in adrenal medulla, lung and anterior pituitary.
Sequence
METTISEIHVENKDEKRSAEGSPGAERQKEKASMLCFKRRKKAAKALKPKAGSEAADVAR
KCPQEAGASDQPEPTRGAWASLKRLVTRRKRSESSKQQKPLEGEMQPAINAEDADLSKKK
AKSRLKIPCIKFPRGPKRSNHSKIIEDSDCSIKVQEEAEILDIQTQTPLNDQATKAKSTQ
DLSEGISRKDGDEVCESNVSNSTTSGEKVISVELGLDNGHSAIQTGTLILEEIETIKEKQ
DVQPQQASPLETSETDHQQPVLSDVPPLPAIPDQQIVEEASNSTLESAPNGKDYESTEIV
AEETKPKDTELSQESDFKENGITEEKSKSEESKRMEPIAIIITDTEISEFDVTKSKNVPK
QFLISAENEQVGVFANDNGFEDRTSEQYETLLIETASSLVKNAIQLSIEQLVNEMASDDN
KINNLLQ
Sequence length 427
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Trafficking of AMPA receptors
ROBO receptors bind AKAP5
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 Evidence Score
CARDIOMEGALY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL COORDINATION DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MOTOR SKILLS DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Age-Related Memory Disorders Age-Related Memory Disorders CTD_human_DG 18711127
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 25637608
★☆☆☆☆
Found in Text Mining only
Developmental Coordination Disorder Developmental dyspraxia CTD_human_DG 18711127
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 33617875 Associate
★☆☆☆☆
Found in Text Mining only
Memory Disorders Memory Disorders CTD_human_DG 18711127
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Motor Skills Disorders Motor Skills Disorders CTD_human_DG 18711127
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia BEFREE 17826036
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 38025711 Associate
★☆☆☆☆
Found in Text Mining only