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AKAP6 (A-kinase anchoring protein 6)

Identity

Alias_namesA kinase (PRKA) anchor protein 6
Alias_symbol (synonym)KIAA0311
mAKAP
AKAP100
PRKA6
ADAP6
Other aliasADAP100
HGNC (Hugo) AKAP6
LocusID (NCBI) 9472
Atlas_Id 47276
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 32798479 and ends at 33302268 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AKAP6 (14q12) / AKAP6 (14q12)AKAP6 (14q12) / EGLN3 (14q13.1)ARHGAP5 (14q12) / AKAP6 (14q12)
KIAA0391 (14q13.2) / AKAP6 (14q12)NPAS3 (14q13.1) / AKAP6 (14q12)RACGAP1 (12q13.12) / AKAP6 (14q12)
RMDN1 (8q21.3) / AKAP6 (14q12)SERP1 (3q25.1) / AKAP6 (14q12)AKAP6 14q12 / EGLN3 14q13.1
FAM82B AKAP6 14q12KIAA0391 14q13.2 / AKAP6 14q12NPAS3 14q13.1 / AKAP6 14q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AKAP6   376
Cards
Entrez_Gene (NCBI)AKAP6  9472  A-kinase anchoring protein 6
AliasesADAP100; ADAP6; AKAP100; PRKA6; 
mAKAP
GeneCards (Weizmann)AKAP6
Ensembl hg19 (Hinxton)ENSG00000151320 [Gene_View]  chr14:32798479-33302268 [Contig_View]  AKAP6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000151320 [Gene_View]  chr14:32798479-33302268 [Contig_View]  AKAP6 [Vega]
ICGC DataPortalENSG00000151320
TCGA cBioPortalAKAP6
AceView (NCBI)AKAP6
Genatlas (Paris)AKAP6
WikiGenes9472
SOURCE (Princeton)AKAP6
Genetics Home Reference (NIH)AKAP6
Genomic and cartography
GoldenPath hg19 (UCSC)AKAP6  -     chr14:32798479-33302268 +  14q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AKAP6  -     14q12   [Description]    (hg38-Dec_2013)
EnsemblAKAP6 - 14q12 [CytoView hg19]  AKAP6 - 14q12 [CytoView hg38]
Mapping of homologs : NCBIAKAP6 [Mapview hg19]  AKAP6 [Mapview hg38]
OMIM604691   
Gene and transcription
Genbank (Entrez)AB002309 AK094160 BC137232 BC137233 BC150185
RefSeq transcript (Entrez)NM_004274
RefSeq genomic (Entrez)NC_000014 NC_018925 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)AKAP6
Cluster EST : UnigeneHs.509083 [ NCBI ]
CGAP (NCI)Hs.509083
Alternative Splicing GalleryENSG00000151320
Gene ExpressionAKAP6 [ NCBI-GEO ]   AKAP6 [ EBI - ARRAY_EXPRESS ]   AKAP6 [ SEEK ]   AKAP6 [ MEM ]
Gene Expression Viewer (FireBrowse)AKAP6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9472
GTEX Portal (Tissue expression)AKAP6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13023   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13023  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13023
Splice isoforms : SwissVarQ13023
PhosPhoSitePlusQ13023
Domains : Interpro (EBI)AKAP6/CEP68    Spectrin/alpha-actinin   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)SPEC (SM00150)  
Conserved Domain (NCBI)AKAP6
DMDM Disease mutations9472
Blocks (Seattle)AKAP6
SuperfamilyQ13023
Human Protein AtlasENSG00000151320
Peptide AtlasQ13023
HPRD05257
IPIIPI00297089   IPI01026575   IPI01026463   IPI01025875   IPI01025758   IPI01025926   IPI01025808   IPI01025195   
Protein Interaction databases
DIP (DOE-UCLA)Q13023
IntAct (EBI)Q13023
FunCoupENSG00000151320
BioGRIDAKAP6
STRING (EMBL)AKAP6
ZODIACAKAP6
Ontologies - Pathways
QuickGOQ13023
Ontology : AmiGOaction potential  protein binding  nuclear envelope  cytoplasm  caveola  protein targeting  adenylate cyclase binding  regulation of protein kinase A signaling  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  junctional sarcoplasmic reticulum membrane  intercalated disc  sarcoplasmic reticulum  cAMP-mediated signaling  positive regulation of cell growth  T-tubule  negative regulation of cAMP biosynthetic process  nuclear membrane  positive regulation of protein phosphatase type 2B activity  protein complex scaffold  protein kinase A regulatory subunit binding  calcium channel complex  intracellular signal transduction  protein anchor  ion channel binding  perinuclear region of cytoplasm  perinuclear region of cytoplasm  protein kinase A binding  protein kinase A binding  positive regulation of release of sequestered calcium ion into cytosol  positive regulation of NFAT protein import into nucleus  regulation of membrane repolarization  positive regulation of ryanodine-sensitive calcium-release channel activity  positive regulation of cell growth involved in cardiac muscle cell development  positive regulation of calcineurin-NFAT signaling cascade  cellular response to cAMP  cellular response to cytokine stimulus  positive regulation of potassium ion transmembrane transport  positive regulation of delayed rectifier potassium channel activity  
Ontology : EGO-EBIaction potential  protein binding  nuclear envelope  cytoplasm  caveola  protein targeting  adenylate cyclase binding  regulation of protein kinase A signaling  regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum  junctional sarcoplasmic reticulum membrane  intercalated disc  sarcoplasmic reticulum  cAMP-mediated signaling  positive regulation of cell growth  T-tubule  negative regulation of cAMP biosynthetic process  nuclear membrane  positive regulation of protein phosphatase type 2B activity  protein complex scaffold  protein kinase A regulatory subunit binding  calcium channel complex  intracellular signal transduction  protein anchor  ion channel binding  perinuclear region of cytoplasm  perinuclear region of cytoplasm  protein kinase A binding  protein kinase A binding  positive regulation of release of sequestered calcium ion into cytosol  positive regulation of NFAT protein import into nucleus  regulation of membrane repolarization  positive regulation of ryanodine-sensitive calcium-release channel activity  positive regulation of cell growth involved in cardiac muscle cell development  positive regulation of calcineurin-NFAT signaling cascade  cellular response to cAMP  cellular response to cytokine stimulus  positive regulation of potassium ion transmembrane transport  positive regulation of delayed rectifier potassium channel activity  
NDEx NetworkAKAP6
Atlas of Cancer Signalling NetworkAKAP6
Wikipedia pathwaysAKAP6
Orthology - Evolution
OrthoDB9472
GeneTree (enSembl)ENSG00000151320
Phylogenetic Trees/Animal Genes : TreeFamAKAP6
HOVERGENQ13023
HOGENOMQ13023
Homologs : HomoloGeneAKAP6
Homology/Alignments : Family Browser (UCSC)AKAP6
Gene fusions - Rearrangements
Fusion : MitelmanAKAP6/EGLN3 [14q12/14q13.1]  
Fusion : MitelmanKIAA0391/AKAP6 [14q13.2/14q12]  [t(14;14)(q12;q13)]  
Fusion : MitelmanNPAS3/AKAP6 [14q13.1/14q12]  [t(14;14)(q12;q13)]  
Fusion : MitelmanRMDN1/AKAP6 [8q21.3/14q12]  [t(8;14)(q21;q12)]  
Fusion: TCGAAKAP6 14q12 EGLN3 14q13.1 GBM
Fusion: TCGAFAM82B AKAP6 14q12 BRCA
Fusion: TCGAKIAA0391 14q13.2 AKAP6 14q12 LUAD
Fusion: TCGANPAS3 14q13.1 AKAP6 14q12 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKAP6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKAP6
dbVarAKAP6
ClinVarAKAP6
1000_GenomesAKAP6 
Exome Variant ServerAKAP6
ExAC (Exome Aggregation Consortium)AKAP6 (select the gene name)
Genetic variants : HAPMAP9472
Genomic Variants (DGV)AKAP6 [DGVbeta]
DECIPHER (Syndromes)14:32798479-33302268  ENSG00000151320
CONAN: Copy Number AnalysisAKAP6 
Mutations
ICGC Data PortalAKAP6 
TCGA Data PortalAKAP6 
Broad Tumor PortalAKAP6
OASIS PortalAKAP6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKAP6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAKAP6
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AKAP6
DgiDB (Drug Gene Interaction Database)AKAP6
DoCM (Curated mutations)AKAP6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKAP6 (select a term)
intoGenAKAP6
Cancer3DAKAP6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604691   
Orphanet
MedgenAKAP6
Genetic Testing Registry AKAP6
NextProtQ13023 [Medical]
TSGene9472
GENETestsAKAP6
Huge Navigator AKAP6 [HugePedia]
snp3D : Map Gene to Disease9472
BioCentury BCIQAKAP6
ClinGenAKAP6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9472
Chemical/Pharm GKB GenePA24670
Clinical trialAKAP6
Miscellaneous
canSAR (ICR)AKAP6 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKAP6
EVEXAKAP6
GoPubMedAKAP6
iHOPAKAP6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:03 CEST 2017

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