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AKAP9 Gene

protein-coding   GIFtS: 60

GC07P091408
A kinase (PRKA) anchor protein (yotiao) 9
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
AKAP350 1, 2, 3
AKAP450 1, 2, 3, 5
CG-NAP 1, 2, 3
HYPERION 1, 2
KIAA0803 1, 2, 3
MU-RMS-40.16A 1, 2
PRKA9 1, 2, 3
YOTIAO 1, 2, 5
Descriptions
A kinase (PRKA) anchor protein (yotiao) 9 2
A-kinase anchor protein 350 kDa 3
A-kinase anchor protein 450 kDa 3
A-kinase anchor protein 9 2
A-kinase anchor protein, 350kDa 2
A-kinase anchoring protein 450 2
AKAP 120-like protein 3
AKAP 350 3
AKAP 450 3
AKAP120-like protein 2
AKAP9-BRAF fusion protein 2
Centrosome- and Golgi-localized PKN-associated protein 3
Protein hyperion 3
Protein kinase A-anchoring protein 9 3
Protein yotiao 3
centrosome- and golgi-localized protein 2
hgAKAP 350 3
kinase N-associated protein 2
protein kinase A anchoring protein 9 2
External Ids
HGNC: 3791
Entrez Gene: 101422
UniProtKB: Q999963
Ensembl: ENSG000001279147
Search outside databases for aliases for AKAP9 gene

Previous GC identifers: GC07P090105 GC07P091168 GC07P091182 GC07P091214

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for AKAP9:
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 encodes a member of the AKAP family.
Alternate splicing of this gene results in at least two isoforms that localize to the centrosome
and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal
transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine
kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon
and phosphodiesterase 4D3. [provided by RefSeq]

UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996
Function: Binds to type II regulatory subunits of protein kinase A. Scaffolding protein that
assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. May be
required to maintain the integrity of the Golgi apparatus. Isoform 4/Yotiao is associated with the
N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as
well as in neuronal synapses, suggesting a role in the organization of postsynaptic
specializations

Gene Wiki entry for AKAP9

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the AKAP9 gene  

Entrez Gene cytogenetic band: 7q21-q22   Ensembl cytogenetic band:  7q21.2   HGNC cytogenetic band: 7q21-q22

AKAP9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P091408:     (about GC identifiers)

Start:
91,408,128 bp from pter
End:
91,577,925 bp from pter
Size:
169,798 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 90,900,319-91,069,227     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079595.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996 (See protein sequence)
Recommended Name: A-kinase anchor protein 9  
Size: 3911 amino acids; 453667 Da
Subunit: Interacts with the regulatory region of protein kinase N (PKN), protein phosphatase 2A
(PP2A), protein phosphatase 1 (PP1) and the immature non-phosphorylated form of PKC epsilon.
Interacts with CIP4 and FNBP1
Subcellular location: Cytoplasm. Centrosome. Golgi apparatus. Note=Cytoplasmic in parietal cells
Sequence caution: Sequence=AAB86384.1; Type=Frameshift; Positions=1637; Sequence=AAC60380.1;
Type=Erroneous gene model prediction;
Secondary accessions: A4D1F0 A4D1F2 A4D1F4 O14869 O43355 O94895 Q75N20 Q9UQH3 Q9UQQ4 Q9Y6B8 Q9Y6Y2
Alternative splicing: 6 isoforms:  Q99996-1   Q99996-2   Q99996-3   Q99996-4   Q99996-5   Q99996-6   

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (4 alternative transcripts): 
    NP_005742.4  NP_671695.1  NP_671700.1  NP_671714.1  


    ENSEMBL proteins: 
    ENSP00000265737 ENSP00000378042 ENSP00000351922 ENSP00000378066 ENSP00000378065 ENSP00000348573 
    ENSP00000350813 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (AKAP9)
    Human Recombinant Proteins from Abnova (AKAP9)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737 cytoplasm IEA--
    GO:0005794 Golgi apparatus IEA--
    GO:0005813 centrosome TAS10202149
    GO:0005856 cytoskeleton TAS9482789
    About this table

    Antibodies for AKAP9: 
    Invitrogen Antibodies for AKAP9
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for AKAP9
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (AKAP9), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (AKAP9)
    Novus Biologicals Antibodies for AKAP9

    Assays for AKAP9: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    1 InterPro domain/family:
     IPR019528 PACT_domain


       GeneDecks  AKAP9 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q99996

    ProtoNet protein and cluster: Q99996

    UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996
    Domain: RII-binding site, predicted to form an amphipathic helix, could participate in
    protein-protein interactions with a complementary surface on the R-subunit dimer

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (AKAP9)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AKAP9)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_005751

                  Applied Biosystems Silencer® siRNAs for AKAP9

                  Sigma-Aldrich siRNA and siRNA Panels for AKAP9  
                         Sigma-Aldrich shRNA for AKAP9  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_005751
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_005751
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_005751 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_005751

    UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996
    Function: Binds to type II regulatory subunits of protein kinase A. Scaffolding protein that
    assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. May be
    required to maintain the integrity of the Golgi apparatus. Isoform 4/Yotiao is associated with the
    N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as
    well as in neuronal synapses, suggesting a role in the organization of postsynaptic
    specializations

    Genatlas biochemistry entry for AKAP9:
    a kinase (PRKA regulatory subunit RIIA) anchor protein 9,abundantly expressed in skeletal muscle
    and pancreas,also expressed in brain,located in the centrosome,interacting with a splice variant
    of GRIN1

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102 receptor binding TAS9482789
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  AKAP9  (Your Favorite Gene powered by Ingenuity) 
     Cardiac &beta
     cAMP-mediated Signaling

       GeneDecks  AKAP9 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  AKAP9 

      --

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810 transport TAS10390370
    GO:0007165 signal transduction TAS10390370
    GO:0007268 synaptic transmission TAS9482789
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for AKAP9
    4 Novoseek chemical compound relationships for AKAP9 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 34.08 3 15528278 (2), 16647783 (1)
    inositol 1,4,5 trisphosphate 31.32 1 15911880 (1)
    cyclic amp 22.69 1 11799244 (1)
    leucine 20.77 1 14982933 (1)
    About this table

    1 PharmGKB drug compound relationship for AKAP9 gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    antiarrhythmicsFA  11799244
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (AKAP9)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (AKAP9)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_005751

                  Sigma-Aldrich siRNA and siRNA Panels for AKAP9  
                         Sigma-Aldrich shRNA for AKAP9  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_005751  NM_147185  

    REFSEQ mRNAs for AKAP9 gene (4 alternative transcripts): 

    NM_005751.4   NM_147166.1   NM_147171.1   NM_147185.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_005751  NM_147185  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 4): NM_005751
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 4): NM_005751
                                     untagged cDNA clones in CMV expression vector (see all 4): NM_005751 

    Additional cDNA sequence: 

    AB018346.1 AB019691.1 AF026245.1 AF083037.1 AF091711.1 AF247727.2 AJ131693.1 AK000270.1 
    AK025160.1 AK026444.1 AK057546.1 AK074869.1 AL117418.1 AY528715.1 BC015533.2 BC027455.1 
    BC040932.1 BC062448.1 

    23 DOTS entries:

    DT.452376  DT.100791885  DT.100656918  DT.100791886  DT.100791884  DT.91666841  DT.95287324  DT.431646 
    DT.91767641  DT.121112386  DT.40253873  DT.95337133  DT.121112521  DT.95113969  DT.97827477  DT.100027182 
    DT.213369  DT.100660446  DT.121112494  DT.75141107  DT.75196239  DT.75196327  DT.95287326 

    24/242 AceView cDNA sequences (see all 242 ):

    AI887666 NM_147166 CA419148 W87644 BE464444 AA429253 AI253205 BE218438 
    BG290591 BC027455 Z38615 AA768003 CB134771 BX114750 BQ950320 AJ131693 
    T50165 CD251824 AL713507 BQ184576 AA931269 CA449636 BC040932 BQ186531 

    highest scoring ESTs for AKAP9:

    AB019691 AA001872 AA429253 AA502941 AA677489 AA693583 AA702784 AA908642 AA931269 AA976494 

    Unigene Cluster for AKAP9:

    A kinase (PRKA) anchor protein (yotiao) 9
    Hs.651221  [show with all ESTs]
    Unigene Representative Sequence: AJ131693


    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP9 (see all 13 )

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:                                      -                                                                       -                                             
    SP2:                                      -                                                                       -                                             
    SP3:                                                                                                              -                                             
    SP4:                                                                                                                                                            
    SP5:                                      -                                                                                                                     

    ExUns: 25a · 25b ^ 26a · 26b · 26c ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b · 37c ^ 38a · 38b ^ 39 ^ 40a · 40b · 40c ^
    SP1:                    -     -                                                                 -                 -     -     -                                 
    SP2:                          -                                                                 -                 -     -     -                                 
    SP3:                          -                                                                 -                 -     -     -                                 
    SP4:                                                                                            -                 -     -     -                                 
    SP5:                                                                                                                                                            

    ExUns: 41 ^ 42 ^ 43a · 43b ^ 44 ^ 45 ^ 46 ^ 47a · 47b · 47c ^ 48a · 48b · 48c ^ 49a · 49b
    SP1:                    -                       -           -                 -               
    SP2:                    -                       -           -                 -               
    SP3:                    -                       -           -                 -               
    SP4:                    -                       -           -                                 
    SP5:                                                                                          

    About this scheme

    ECgene alternative splicing isoforms for AKAP9

    7 Ensembl transcripts including schematic representations:
    ENST00000265737  ENST00000394534  ENST00000359028  ENST00000394565  ENST00000394564  ENST00000356239  
    ENST00000358100  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    AKAP9 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for AKAP9

    1 / 2 / 3

    8 probe-sets matching AKAP9 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    36506_at2, 3 U95-A 1 1.00 1.00 0.63 1.20 AB019691 1.00 1.00 1.00 1
    67427_at2, 3 U95-D 1 1.00 1.00 0.93 0.80 AA908642 0.80 1.00 0.91 1

    215483_at2, 3 U133-A 1 1.00 1.00 -- -- AK000270 0.60 1.00 0.82 1

    210962_s_at2, 3 U133-A 1 1.00 1.00 -- -- AB019691 1.00 1.00 1.00 1

    207870_at2, 3 U133-A 1 1.00 1.00 -- -- NM_005751 0.60 1.00 0.82 1

    215483_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    210962_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    207870_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  AKAP9 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTTTGCCTAA

    SOURCE GeneReport for Unigene cluster: Hs.651221

    Expression variation in blood from EXPOLDB for AKAP9

    UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996
    Tissue specificity: Widely expressed. Isoform 4/Yotiao is highly expressed in skeletal muscle and
    in pancreas

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for AKAP9 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    AKAP91   -- A kinase (PRKA) anchor protein (yotiao) 9 90.26(n)
    87.73(a)
    475224  XM_532456.2  XP_532456.2 
    chimpanzee
    (Pan troglodytes)
    AKAP91   -- A kinase (PRKA) anchor protein (yotiao) 9 99.56(n)
    99.39(a)
    472440  XM_527814.2  XP_527814.2 
    cow
    (Bos taurus)
    AKAP91   -- A kinase (PRKA) anchor protein (yotiao) 9 88.44(n)
    86.08(a)
    520784  XM_599034.3  XP_599034.3 
    rat
    (Rattus norvegicus)
    Akap91   -- A kinase (PRKA) anchor protein (yotiao) 9 76.91(n)
    72.26(a)
    246150  XM_347223.3  XP_347224.3 
    mouse
    (Mus musculus)
    Akap91, 5 55
    A kinase (PRKA) anchor protein (yotiao) 91, 5 76.89(n)1
    71.28(a)1
    1009861  NM_194462.21  NP_919444.21 
     AF3437515  AI5278305  (see all 28)
    About this table        Species with no ortholog for AKAP9

    ENSEMBL Gene Tree for AKAP9
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for AKAP9 gene
    PCNT2  TPR2  EEA12  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/787 NCBI SNPs in AKAP9 are shown (see all 787 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 185)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs69645871,2
    A,C,F,H91468556(+) GAAATG/TAAAAC 2 M/I mis112Minor allele frequency- T:0.31EA NA EU WA 1054
    rs18590371,2
    A,C,F,H91406208(+) TCAGAG/ACACTA 2 -- ng518Minor allele frequency- A:0.39NA EA MN EU WA 851
    rs69608671,2
    C,F,H91550634(+) CAGCAA/GTCAGA 2 N/S mis17Minor allele frequency- G:0.29NA EU EA WA 650
    --
    rs22307681,2
    C,F91508072(+) TATGCA/C/GGCAAA 4 R/Q R/P mis1 ese34MN NA EA 283
    rs10632421,2
    C,H91552847(+) CAGAAT/CCTTGG 2 S/P mis1 ese39Minor allele frequency- C:0.00NA EA MN EU WA 925
    --
    rs357598331,2
    C,F91546834(-) AAGATT/CTGAAG 2 R/K mis15Minor allele frequency- C:0.05NA EU EA WA 472
    rs343273951,2
    C,F91567063(-) CTTCAT/CAACCA 2 V/M mis15Minor allele frequency- C:0.01NA EU EA WA 490
    rs349566331,2
    C,F91564540(-) GCTTCT/CGGAAT 2 R/Q mis15Minor allele frequency- C:0.03NA EU EA WA 492
    rs47272661,2
    A91408065(+) GCCCAC/TGAGGC 2 -- ng51 tfbs30--------
    --
    rs47272671,2
    A91408226(+) GGAGCC/GCCGGA 2 -- ut51 ese30--------
    About this table

    HapMap Linkage Disequilibrium images for AKAP9 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 604001   disorders: 611820  

    UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996

  • Defects in AKAP9 are the cause of long QT syndrome type 11 (LQT11) [MIM:611820]. Long QT
    syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic
    ventricular arrhythmias. They cause syncope and sudden death in response to excercise or emotional
    stress. They can present with a sentinel event of sudden cardiac death in infancy
  • 1 Novoseek disease relationship for AKAP9 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    thyroid papillary carcinoma 56.55 2 16753739 (2)
    About this table

    1 PharmGKB disease relationship for AKAP9 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Long QT SyndromeFA  11799244
    About this table

    Human Gene Mutation Database: AKAP9
    Human Genome Epidemiology Navigator: AKAP9 (5 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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    10/52 PubMed articles for AKAP9 gene (see all 52 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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    Entrez Gene: 10142 HGNC: 379 AceView: AKAP9 Ensembl:ENSG00000127914 euGenes: HUgn10142
    ECgene: AKAP9 H-InvDB: AKAP9
    (According to HUGE)
    About This Section

    HUGE: KIAA0803
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for AKAP9 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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     Antibodies for AKAP9

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