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AKAP13 (A-kinase anchoring protein 13)

Identity

Alias (NCBI)AKAP-13
AKAP-Lbc
ARHGEF13
BRX
HA-3
Ht31
LBC
PRKA13
PROTO-LB
PROTO-LBC
c-lbc
p47
HGNC (Hugo) AKAP13
HGNC Alias symbHt31
BRX
AKAP-Lbc
c-lbc
PROTO-LB
HA-3
ARHGEF13
HGNC Previous nameLBC
HGNC Previous namelymphoid blast crisis oncogene
 A kinase (PRKA) anchor protein 13
LocusID (NCBI) 11214
Atlas_Id 53096
Location 15q25.3  [Link to chromosome band 15q25]
Location_base_pair Starts at 85380603 and ends at 85749355 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(5;15)(q12;q25) RNF180/AKAP13
t(11;15)(q23;q25) KMT2A/AKAP13


External links

Nomenclature
HGNC (Hugo)AKAP13   371
Cards
Entrez_Gene (NCBI)AKAP13    A-kinase anchoring protein 13
AliasesAKAP-13; AKAP-Lbc; ARHGEF13; BRX; 
HA-3; Ht31; LBC; PRKA13; PROTO-LB; PROTO-LBC; c-lbc; p47
GeneCards (Weizmann)AKAP13
Ensembl hg19 (Hinxton)ENSG00000170776 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170776 [Gene_View]  ENSG00000170776 [Sequence]  chr15:85380603-85749355 [Contig_View]  AKAP13 [Vega]
ICGC DataPortalENSG00000170776
TCGA cBioPortalAKAP13
AceView (NCBI)AKAP13
Genatlas (Paris)AKAP13
SOURCE (Princeton)AKAP13
Genetics Home Reference (NIH)AKAP13
Genomic and cartography
GoldenPath hg38 (UCSC)AKAP13  -     chr15:85380603-85749355 +  15q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKAP13  -     15q25.3   [Description]    (hg19-Feb_2009)
GoldenPathAKAP13 - 15q25.3 [CytoView hg19]  AKAP13 - 15q25.3 [CytoView hg38]
ImmunoBaseENSG00000170776
genome Data Viewer NCBIAKAP13 [Mapview hg19]  
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)
Consensus coding sequences : CCDS (NCBI)AKAP13
Alternative Splicing GalleryENSG00000170776
Gene ExpressionAKAP13 [ NCBI-GEO ]   AKAP13 [ EBI - ARRAY_EXPRESS ]   AKAP13 [ SEEK ]   AKAP13 [ MEM ]
Gene Expression Viewer (FireBrowse)AKAP13 [ Firebrowse - Broad ]
GenevisibleExpression of AKAP13 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11214
GTEX Portal (Tissue expression)AKAP13
Human Protein AtlasENSG00000170776-AKAP13 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12802   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12802  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12802
Splice isoforms : SwissVarQ12802
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    DBL_dom_sf    DH-domain    PE/DAG-bd    PH-like_dom_sf    PH_16    PH_domain    RII-bd_1   
Domain families : Pfam (Sanger)PH_16 (PF17838)    RhoGEF (PF00621)    RII_binding_1 (PF10522)   
Domain families : Pfam (NCBI)pfam17838    pfam00621    pfam10522   
Domain families : Smart (EMBL)C1 (SM00109)  PH (SM00233)  RhoGEF (SM00325)  
Conserved Domain (NCBI)AKAP13
Blocks (Seattle)AKAP13
PDB (RSDB)2DRN    2LG1    4D0N    4D0O    6BCA   
PDB Europe2DRN    2LG1    4D0N    4D0O    6BCA   
PDB (PDBSum)2DRN    2LG1    4D0N    4D0O    6BCA   
PDB (IMB)2DRN    2LG1    4D0N    4D0O    6BCA   
Structural Biology KnowledgeBase2DRN    2LG1    4D0N    4D0O    6BCA   
SCOP (Structural Classification of Proteins)2DRN    2LG1    4D0N    4D0O    6BCA   
CATH (Classification of proteins structures)2DRN    2LG1    4D0N    4D0O    6BCA   
SuperfamilyQ12802
Human Protein Atlas [tissue]ENSG00000170776-AKAP13 [tissue]
Peptide AtlasQ12802
HPRD05253
IPIIPI00329783   IPI00065931   IPI00829717   IPI00829774   IPI00384381   IPI00829853   IPI00885071   IPI01018636   IPI00872432   IPI00375281   
Protein Interaction databases
DIP (DOE-UCLA)Q12802
IntAct (EBI)Q12802
BioGRIDAKAP13
STRING (EMBL)AKAP13
ZODIACAKAP13
Ontologies - Pathways
QuickGOQ12802
Ontology : AmiGOcAMP-dependent protein kinase activity  MAP-kinase scaffold activity  MAP-kinase scaffold activity  guanyl-nucleotide exchange factor activity  protein binding  nucleus  cytosol  cytosol  cell cortex  protein phosphorylation  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  heart development  actin cytoskeleton  membrane  cortical actin cytoskeleton  small GTPase binding  regulation of Rho protein signal transduction  positive regulation of Rho protein signal transduction  positive regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of MAP 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  molecular adaptor activity  regulation of sarcomere organization  bone development  cell growth involved in cardiac muscle cell development  adrenergic receptor signaling pathway  adrenergic receptor signaling pathway  adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process  
Ontology : EGO-EBIcAMP-dependent protein kinase activity  MAP-kinase scaffold activity  MAP-kinase scaffold activity  guanyl-nucleotide exchange factor activity  protein binding  nucleus  cytosol  cytosol  cell cortex  protein phosphorylation  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  heart development  actin cytoskeleton  membrane  cortical actin cytoskeleton  small GTPase binding  regulation of Rho protein signal transduction  positive regulation of Rho protein signal transduction  positive regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of MAP 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  molecular adaptor activity  regulation of sarcomere organization  bone development  cell growth involved in cardiac muscle cell development  adrenergic receptor signaling pathway  adrenergic receptor signaling pathway  adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process  
Pathways : BIOCARTARho-Selective Guanine Exchange Factor AKAP13 Mediates Stress Fiber Formation [Genes]   
NDEx NetworkAKAP13
Atlas of Cancer Signalling NetworkAKAP13
Wikipedia pathwaysAKAP13
Orthology - Evolution
OrthoDB11214
GeneTree (enSembl)ENSG00000170776
Phylogenetic Trees/Animal Genes : TreeFamAKAP13
HOGENOMQ12802
Homologs : HomoloGeneAKAP13
Homology/Alignments : Family Browser (UCSC)AKAP13
Gene fusions - Rearrangements
Fusion : MitelmanAKAP13/CHD2 [15q25.3/15q26.1]  
Fusion : MitelmanAKAP13/CHSY3 [15q25.3/5q23.3]  
Fusion : MitelmanAKAP13/DMXL2 [15q25.3/15q21.2]  
Fusion : MitelmanAKAP13/IGF1R [15q25.3/15q26.3]  
Fusion : MitelmanAKAP13/NRG1 [15q25.3/8p12]  
Fusion : MitelmanAKAP13/NTRK3 [15q25.3/15q25.3]  
Fusion : MitelmanAKAP13/PDE8A [15q25.3/15q25.3]  
Fusion : MitelmanAKAP13/RET [15q25.3/10q11.21]  
Fusion : MitelmanGSN/AKAP13 [9q33.2/15q25.3]  
Fusion : MitelmanIQGAP1/AKAP13 [15q26.1/15q25.3]  
Fusion PortalAKAP13 15q25.3 CHD2 15q26.1 LUSC
Fusion PortalAKAP13 15q25.3 CHSY3 5q23.3 BRCA
Fusion PortalAKAP13 15q25.3 IGF1R 15q26.3 BRCA
Fusion PortalAKAP13 15q25.3 NRG1 8p12 BRCA
Fusion PortalAKAP13 15q25.3 NTRK3 15q25.3 LGG
Fusion PortalAKAP13 15q25.3 RET 10q11.21 THCA
Fusion PortalGSN 9q33.2 AKAP13 15q25.3 THCA
Fusion : QuiverAKAP13
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKAP13 [hg38]
dbVarAKAP13
ClinVarAKAP13
MonarchAKAP13
1000_GenomesAKAP13 
Exome Variant ServerAKAP13
GNOMAD BrowserENSG00000170776
Varsome BrowserAKAP13
Genomic Variants (DGV)AKAP13 [DGVbeta]
DECIPHERAKAP13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAKAP13 
Mutations
ICGC Data PortalAKAP13 
TCGA Data PortalAKAP13 
Broad Tumor PortalAKAP13
OASIS PortalAKAP13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKAP13  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAKAP13
Mutations and Diseases : HGMDAKAP13
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
Cancer3DAKAP13(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604686   
Orphanet
DisGeNETAKAP13
MedgenAKAP13
Genetic Testing Registry AKAP13
NextProtQ12802 [Medical]
GENETestsAKAP13
Target ValidationAKAP13
Huge Navigator AKAP13 [HugePedia]
ClinGenAKAP13
Clinical trials, drugs, therapy
MyCancerGenomeAKAP13
Protein Interactions : CTD
Pharm GKB GenePA24665
PharosQ12802
Clinical trialAKAP13
Miscellaneous
canSAR (ICR)AKAP13 (select the gene name)
HarmonizomeAKAP13
DataMed IndexAKAP13
Probes
Litterature
PubMed100 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAKAP13
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 25 19:10:29 CET 2021

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