Gene Gene information from NCBI Gene database.
Entrez ID 11216
Gene name A-kinase anchoring protein 10
Gene symbol AKAP10
Synonyms (NCBI Gene)
AKAP-10D-AKAP-2D-AKAP2PRKA10
Chromosome 17
Chromosome location 17p11.2
Summary This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mito
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs203462 T>C Risk-factor Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
335
miRTarBase ID miRNA Experiments Reference
MIRT043412 hsa-miR-331-3p CLASH 23622248
MIRT042793 hsa-miR-339-5p CLASH 23622248
MIRT568562 hsa-miR-129-5p PAR-CLIP 20371350
MIRT524946 hsa-miR-5580-3p PAR-CLIP 20371350
MIRT524945 hsa-miR-190a-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20159461
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604694 368 ENSG00000108599
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43572
Protein name A-kinase anchor protein 10, mitochondrial (AKAP-10) (Dual specificity A kinase-anchoring protein 2) (D-AKAP-2) (Protein kinase A-anchoring protein 10) (PRKA10)
Protein function Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not
PDB 3IM4 , 3TMH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00615 RGS 261 368 Regulator of G protein signaling domain Domain
PF00615 RGS 379 504 Regulator of G protein signaling domain Domain
Sequence
MRGAGPSPRQSPRTLRPDPGPAMSFFRRKVKGKEQEKTSDVKSIKASISVHSPQKSTKNH
ALLEAAGPSHVAINAISANMDSFSSSRTATLKKQPSHMEAAHFGDLGRSCLDYQTQETKS
SLSKTLEQVLHDTIVLPYFIQFMELRRMEHLVKFWLEAESFHSTTWSRIRAHSLNTVKQS
SLAEPVSPSKKHETTASFLTDSLDKRLEDSGSAQLFMTHSEGIDLNNRTNSTQNHLLLSQ
ECDSAHSLRLEMARAGTHQVSMETQESSSTLTVASRNSPASPLKELSGKLMKSIEQDAVN
TFTKYISPDAAKPIPITEAMRNDIIARICGEDGQVDPNCFVLAQSIVFSAMEQEHFSEFL
RSHHFCKY
QIEVLTSGTVYLADILFCESALFYFSEYMEKEDAVNILQFWLAADNFQSQLA
AKKGQYDGQEAQNDAMILYDKYFSLQATHPLGFDDVVRLEIESNICREGGPLPNCFTTPL
RQAWTTMEKVFLPGFLSSNLYYKY
LNDLIHSVRGDEFLGGNVSLTAPGSVGPPDESHPGS
SDSSASQSSVKKASIKILKNFDEAIIVDAASLDPESLYQRTYAGKMTFGRVSDLGQFIRE
SEPEPDVRKSKGSMFSQAMKKWVQGNTDEAQEELAWKIAKMIVSDIMQQAQYDQPLEKST
KL
Sequence length 662
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AKAP10-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign rs203462, rs2108978, rs2072336, rs757814589, rs11870360, rs146647888, rs145600622, rs61749865 RCV003974800
RCV003974315
RCV003904159
RCV003927131
RCV003932166
RCV003949143
RCV003956710
RCV003976270
Conduction disorder of the heart Uncertain significance rs767054513 RCV003337833
Reclassified - variant of unknown significance Conflicting classifications of pathogenicity rs203462 RCV004703181
SUDDEN INFANT DEATH SYNDROME Uncertain significance rs985236104 RCV001787413
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 23468363
Colorectal Neoplasms Associate 23468363
Hypertension Associate 22817328
Lymphatic Metastasis Associate 23468363
Neoplasms Associate 23468363, 32233832