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AKAP13 (A-kinase anchoring protein 13)

Identity

Other namesAKAP-13
AKAP-Lbc
ARHGEF13
BRX
HA-3
Ht31
LBC
PRKA13
PROTO-LB
PROTO-LBC
c-lbc
p47
HGNC (Hugo) AKAP13
LocusID (NCBI) 11214
Atlas_Id 53096
Location 15q25.3
Location_base_pair Starts at 86163181 and ends at 86292589 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADAMTS12 (5p13.3) / AKAP13 (15q25.3)AKAP13 (15q25.3) / AKAP13 (15q25.3)AKAP13 (15q25.3) / C3orf58 (3q24)
AKAP13 (15q25.3) / CHD2 (15q26.1)AKAP13 (15q25.3) / CHSY3 (5q23.3)AKAP13 (15q25.3) / DMXL2 (15q21.2)
AKAP13 (15q25.3) / IGF1R (15q26.3)AKAP13 (15q25.3) / IQCG (3q29)AKAP13 (15q25.3) / NCOA2 (8q13.3)
AKAP13 (15q25.3) / NRG1 (8p12)AKAP13 (15q25.3) / NTRK3 (15q25.3)AKAP13 (15q25.3) / PDE8A (15q25.3)
AKAP13 (15q25.3) / RET (10q11.21)AKAP13 (15q25.3) / SERPINA1 (14q32.13)AKAP13 (15q25.3) / SUPT3H (6p21.1)
AKAP13 (15q25.3) / USP47 (11p15.3)AKAP13 (15q25.3) / ZFYVE1 (14q24.2)DDT (22q11.23) / AKAP13 (15q25.3)
GSN (9q33.2) / AKAP13 (15q25.3)IQGAP1 (15q26.1) / AKAP13 (15q25.3)KMT2A (11q23.3) / AKAP13 (15q25.3)
PIP5K1C (19p13.3) / AKAP13 (15q25.3)PPFIBP1 (12p11.23) / AKAP13 (15q25.3)RNF180 (5q12.3) / AKAP13 (15q25.3)
SPG11 (15q21.1) / AKAP13 (15q25.3)STX8 (17p13.1) / AKAP13 (15q25.3)TMTC1 (12p11.22) / AKAP13 (15q25.3)
XPO6 (16p11.2) / AKAP13 (15q25.3)AKAP13 15q25.3 / CHD2 15q26.1AKAP13 15q25.3 / CHSY3 5q23.3
AKAP13 15q25.3 / IGF1R 15q26.3AKAP13 15q25.3 / NRG1 8p12AKAP13 15q25.3 / NTRK3 15q25.3
AKAP13 15q25.3 / RET 10q11.21GSN 9q33.2 / AKAP13 15q25.3

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)AKAP13   371
Cards
Entrez_Gene (NCBI)AKAP13  11214  A-kinase anchoring protein 13
GeneCards (Weizmann)AKAP13
Ensembl hg19 (Hinxton)ENSG00000170776 [Gene_View]  chr15:86163181-86292589 [Contig_View]  AKAP13 [Vega]
Ensembl hg38 (Hinxton)ENSG00000170776 [Gene_View]  chr15:86163181-86292589 [Contig_View]  AKAP13 [Vega]
ICGC DataPortalENSG00000170776
TCGA cBioPortalAKAP13
AceView (NCBI)AKAP13
Genatlas (Paris)AKAP13
WikiGenes11214
SOURCE (Princeton)AKAP13
Genomic and cartography
GoldenPath hg19 (UCSC)AKAP13  -     chr15:86163181-86292589 +  15q25.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AKAP13  -     15q25.3   [Description]    (hg38-Dec_2013)
EnsemblAKAP13 - 15q25.3 [CytoView hg19]  AKAP13 - 15q25.3 [CytoView hg38]
Mapping of homologs : NCBIAKAP13 [Mapview hg19]  AKAP13 [Mapview hg38]
OMIM604686   
Gene and transcription
Genbank (Entrez)AB055890 AB209414 AF086293 AF126008 AF387101
RefSeq transcript (Entrez)NM_001270546 NM_006738 NM_007200 NM_144767
RefSeq genomic (Entrez)NC_000015 NC_018926 NT_010194 NW_004929399
Consensus coding sequences : CCDS (NCBI)AKAP13
Cluster EST : UnigeneHs.710656 [ NCBI ]
CGAP (NCI)Hs.710656
Alternative Splicing GalleryENSG00000170776
Gene ExpressionAKAP13 [ NCBI-GEO ]   AKAP13 [ EBI - ARRAY_EXPRESS ]   AKAP13 [ SEEK ]   AKAP13 [ MEM ]
Gene Expression Viewer (FireBrowse)AKAP13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11214
GTEX Portal (Tissue expression)AKAP13
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12802 (Uniprot)
NextProtQ12802  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12802
Splice isoforms : SwissVarQ12802 (Swissvar)
PhosPhoSitePlusQ12802
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)AKAP13    DH-domain    PE/DAG-bd    PH_dom-like    PH_domain    RII_binding_1   
Domain families : Pfam (Sanger)PH_13 (PF16652)    RhoGEF (PF00621)    RII_binding_1 (PF10522)   
Domain families : Pfam (NCBI)pfam16652    pfam00621    pfam10522   
Domain families : Smart (EMBL)C1 (SM00109)  PH (SM00233)  RhoGEF (SM00325)  
DMDM Disease mutations11214
Blocks (Seattle)AKAP13
PDB (SRS)2DRN    2LG1    4D0N    4D0O   
PDB (PDBSum)2DRN    2LG1    4D0N    4D0O   
PDB (IMB)2DRN    2LG1    4D0N    4D0O   
PDB (RSDB)2DRN    2LG1    4D0N    4D0O   
Structural Biology KnowledgeBase2DRN    2LG1    4D0N    4D0O   
SCOP (Structural Classification of Proteins)2DRN    2LG1    4D0N    4D0O   
CATH (Classification of proteins structures)2DRN    2LG1    4D0N    4D0O   
SuperfamilyQ12802
Human Protein AtlasENSG00000170776
Peptide AtlasQ12802
HPRD05253
IPIIPI00329783   IPI00065931   IPI00829717   IPI00829774   IPI00384381   IPI00829853   IPI00885071   IPI01018636   IPI00872432   IPI00375281   
Protein Interaction databases
DIP (DOE-UCLA)Q12802
IntAct (EBI)Q12802
FunCoupENSG00000170776
BioGRIDAKAP13
STRING (EMBL)AKAP13
ZODIACAKAP13
Ontologies - Pathways
QuickGOQ12802
Ontology : AmiGOcAMP-dependent protein kinase activity  signal transducer activity  MAP-kinase scaffold activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  cell cortex  protein phosphorylation  G-protein coupled receptor signaling pathway  heart development  regulation of cardiac muscle hypertrophy  membrane  Rho GTPase binding  cortical actin cytoskeleton  protein complex scaffold  positive regulation of Rho protein signal transduction  positive regulation of Rho protein signal transduction  intracellular signal transduction  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  regulation of protein kinase activity  metal ion binding  perinuclear region of cytoplasm  protein kinase A binding  regulation of small GTPase mediated signal transduction  nuclear export  cardiac muscle cell differentiation  regulation of sarcomere organization  bone development  adrenergic receptor signaling pathway  adrenergic receptor signaling pathway involved in heart process  regulation of glucocorticoid mediated signaling pathway  
Ontology : EGO-EBIcAMP-dependent protein kinase activity  signal transducer activity  MAP-kinase scaffold activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  nucleus  cytoplasm  cytosol  cytosol  cell cortex  protein phosphorylation  G-protein coupled receptor signaling pathway  heart development  regulation of cardiac muscle hypertrophy  membrane  Rho GTPase binding  cortical actin cytoskeleton  protein complex scaffold  positive regulation of Rho protein signal transduction  positive regulation of Rho protein signal transduction  intracellular signal transduction  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of GTPase activity  positive regulation of GTPase activity  positive regulation of GTPase activity  regulation of protein kinase activity  metal ion binding  perinuclear region of cytoplasm  protein kinase A binding  regulation of small GTPase mediated signal transduction  nuclear export  cardiac muscle cell differentiation  regulation of sarcomere organization  bone development  adrenergic receptor signaling pathway  adrenergic receptor signaling pathway involved in heart process  regulation of glucocorticoid mediated signaling pathway  
Pathways : BIOCARTARho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation [Genes]   
NDEx Network
Atlas of Cancer Signalling NetworkAKAP13
Wikipedia pathwaysAKAP13
Orthology - Evolution
OrthoDB11214
GeneTree (enSembl)ENSG00000170776
Phylogenetic Trees/Animal Genes : TreeFamAKAP13
Homologs : HomoloGeneAKAP13
Homology/Alignments : Family Browser (UCSC)AKAP13
Gene fusions - Rearrangements
Fusion: TCGAAKAP13 15q25.3 CHD2 15q26.1 LUSC
Fusion: TCGAAKAP13 15q25.3 CHSY3 5q23.3 BRCA
Fusion: TCGAAKAP13 15q25.3 IGF1R 15q26.3 BRCA
Fusion: TCGAAKAP13 15q25.3 NRG1 8p12 BRCA
Fusion: TCGAAKAP13 15q25.3 NTRK3 15q25.3 LGG
Fusion: TCGAAKAP13 15q25.3 RET 10q11.21 THCA
Fusion: TCGAGSN 9q33.2 AKAP13 15q25.3 THCA
Polymorphisms : SNP, variants
NCBI Variation ViewerAKAP13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKAP13
dbVarAKAP13
ClinVarAKAP13
1000_GenomesAKAP13 
Exome Variant ServerAKAP13
ExAC (Exome Aggregation Consortium)AKAP13 (select the gene name)
Genetic variants : HAPMAP11214
Genomic Variants (DGV)AKAP13 [DGVbeta]
Mutations
ICGC Data PortalAKAP13 
TCGA Data PortalAKAP13 
Broad Tumor PortalAKAP13
OASIS PortalAKAP13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKAP13 
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 AKAP13
DgiDB (Drug Gene Interaction Database)AKAP13
DoCM (Curated mutations)AKAP13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKAP13 (select a term)
intoGenAKAP13
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)15:86163181-86292589  ENSG00000170776
CONAN: Copy Number AnalysisAKAP13 
Mutations and Diseases : HGMDAKAP13
OMIM604686   
MedgenAKAP13
Genetic Testing Registry AKAP13
NextProtQ12802 [Medical]
TSGene11214
GENETestsAKAP13
Huge Navigator AKAP13 [HugePedia]
snp3D : Map Gene to Disease11214
BioCentury BCIQAKAP13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11214
Chemical/Pharm GKB GenePA24665
Clinical trialAKAP13
Miscellaneous
canSAR (ICR)AKAP13 (select the gene name)
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKAP13
EVEXAKAP13
GoPubMedAKAP13
iHOPAKAP13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun May 8 18:36:31 CEST 2016

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