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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AKAP9 Gene

protein-coding   GIFtS: 65
GCID: GC07P091570

A Kinase (PRKA) Anchor Protein 9

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
A Kinase (PRKA) Anchor Protein 91 2     A-Kinase Anchoring Protein 4501
AKAP4502 3 5     AKAP120-Like Protein1
AKAP9-BRAF Fusion Protein1 2     Centrosome- And Golgi-Localized Protein1
Kinase N-Associated Protein1 2     Protein Phosphatase 11
Protein Kinase A Anchoring Protein 91 2     Regulatory Subunit 451
Centrosome- And Golgi-Localized PKN-Associated Protein2 3     yotiao1
Protein Hyperion2 3     HYPERION2
Protein Yotiao2 3     LQT112
AKAP-92 3     MU-RMS-40.16A2
AKAP3502 3     PPP1R452
CG-NAP2 3     A Kinase (PRKA) Anchor Protein (Yotiao) 92
PRKA92 3     A-Kinase Anchor Protein 92
A-Kinase Anchor Protein 350 KDa2 3     Protein Phosphatase 1, Regulatory Subunit 452
A-Kinase Anchor Protein 450 KDa2 3     KIAA08033
AKAP 120-Like Protein2 3     AKAP 3503
YOTIAO2 5     AKAP 4503
350kDa1     HgAKAP 3503
A-Kinase Anchor Protein1     Protein Kinase A-Anchoring Protein 93

External Ids:    HGNC: 3791   Entrez Gene: 101422   Ensembl: ENSG000001279147   OMIM: 6040015   UniProtKB: Q999963   

Export aliases for AKAP9 gene to outside databases

Previous GC identifers: GC07P090105 GC07P091168 GC07P091182 GC07P091214 GC07P091408 GC07P086177


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

Entrez Gene summary for AKAP9 Gene:
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, Aug 2008)

GeneCards Summary for AKAP9 Gene: 
AKAP9 (A kinase (PRKA) anchor protein 9) is a protein-coding gene. Diseases associated with AKAP9 include long qt syndrome 11, and long qt syndrome, and among its related super-pathways are G2/M Transition and Activation of cAMP-Dependent PKA. GO annotations related to this gene include protein binding and receptor binding. An important paralog of this gene is PCNT.

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 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 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKAP9 gene promoter:
         NF-YB   CBF-B   CBF-A   NF-YA   Olf-1   CP1C   CP1A   NF-Y   CBF-C   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 13): AKAP9 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKAP9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKAP9


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
AKAP9 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P091570:  view genomic region     (about GC identifiers)

Start:
91,570,181 bp from pter      End:
91,739,987 bp from pter
Size:
169,807 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 90,900,316-91,069,225     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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.
Interacts with chloride intracellular channel proteins CLIC1, CLIC4 and CLIC5. CSNK1D binding promotes its
centrosomal subcellular location
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, 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   

Explore the universe of human proteins at neXtProt for AKAP9: NX_Q99996

Explore proteomics data for AKAP9 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99996

  • AKAP9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKAP9 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005742.4  NP_671714.1  

    ENSEMBL proteins: 
     ENSP00000348573   ENSP00000378065   ENSP00000391704   ENSP00000378042   ENSP00000406937  
     ENSP00000351922   ENSP00000350813  
    Reactome Protein details: Q99996
    Human Recombinant Protein Products for AKAP9: 
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    Cloud-Clone Corp. Proteins for AKAP9 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000242pericentriolar material IEA--
    GO:0005737cytoplasm ----
    GO:0005794Golgi apparatus IDA--
    GO:0005813centrosome IDA--
    GO:0005829cytosol TAS--

    AKAP9 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits
    AKAP: A-kinase anchor proteins

    1 InterPro protein domain:
     IPR019528 PACT_domain

    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


    AKAP9 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 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

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding TAS9482789
    GO:0005515protein binding IPI12163479
    GO:0016301kinase activity ----
    GO:0032947protein complex scaffold IDA11799244
    GO:0044325ion channel binding IPI11799244
         
    AKAP9 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Akap9):
     adipose tissue  craniofacial  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  skeleton 

    AKAP9 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AKAP9 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKAP9 
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    hsa-miR-3163 hsa-miR-222* hsa-miR-548o hsa-miR-1179 hsa-miR-133b hsa-miR-3692 hsa-miR-133a hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidAKAP9 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AKAP9 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Recruitment of mitotic centrosome proteins and complexes
    Recruitment of mitotic centrosome proteins and complexes0.83
    Mitotic G2-G2/M phases0.81
    Centrosome maturation0.83
    Loss of Nlp from mitotic centrosomes0.78
    G2/M Transition0.83
    Loss of proteins required for interphase microtubule organization,from the centrosome0.78
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    3Post NMDA receptor activation events
    Post NMDA receptor activation events0.89
    CREB phosphorylation through the activation of Ras0.82
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    4Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    5CREB phosphorylation through the activation of CaMKII
    CREB phosphorylation through the activation of CaMKII0.78
    Unblocking of NMDA receptor, glutamate binding and activation0.68
    Ras activation uopn Ca2+ infux through NMDA receptor0.78

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AKAP9
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 BioSystems Pathway for AKAP9
        G Protein Signaling Pathways

    5/17        Reactome Pathways for AKAP9 (see all 17)
        Unblocking of NMDA receptor, glutamate binding and activation
    Transmission across Chemical Synapses
    Cell Cycle
    Recruitment of mitotic centrosome proteins and complexes
    Post NMDA receptor activation events



    AKAP9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKAP9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/116 Interacting proteins for AKAP9 (Q999962, 3 ENSP000003485734) via UniProtKB, MINT, STRING, and/or I2D (see all 116)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CLIC1O002993, ENSP000003649344I2D: score=2 STRING: ENSP00000364934
    ENSG00000230685O002993, ENSP000004080944I2D: score=2 STRING: ENSP00000408094
    ENSG00000206394O002993I2D: score=2 
    ENSG00000223639O002993I2D: score=2 
    ENSG00000226248O002993I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000086G2/M transition of mitotic cell cycle TAS--
    GO:0000278mitotic cell cycle TAS--
    GO:0006810transport TAS10390370
    GO:0007165signal transduction TAS10390370
    GO:0007268synaptic transmission TAS--

    AKAP9 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AKAP9 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for AKAP9

    1 HMDB Compound for AKAP9    About this table
    CompoundSynonyms CAS #PubMed Ids
    N-Methyl-D-aspartic acidN-Methyl-D-aspartate (see all 5)6384-92-5--

    6 Novoseek inferred chemical compound relationships for AKAP9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nocodazole 48.7 1 9915845 (1)
    potassium 32.3 3 15528278 (2), 16647783 (1)
    nmda 30.3 4 12649130 (1), 14982933 (1), 9915845 (1)
    inositol 1,4,5 trisphosphate 29.9 1 15911880 (1)
    cyclic amp 21.2 1 11799244 (1)
    leucine 19 1 14982933 (1)

    Search CenterWatch for drugs/clinical trials and news about AKAP9

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AKAP9 gene (4 alternative transcripts): 
    NM_005751.4  NM_147185.2  NM_147166.1  NM_147171.1  

    Unigene Cluster for AKAP9:

    A kinase (PRKA) anchor protein (yotiao) 9
    Hs.651221  [show with all ESTs]
    Unigene Representative Sequence: AJ131693
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356239(uc003ulf.3 uc003ulg.3 uc003uli.3) ENST00000493453(uc003ule.2)
    ENST00000394564(uc003uld.4) ENST00000438114 ENST00000484815 ENST00000491695
    ENST00000394534(uc003ulj.3) ENST00000435423(uc003ulk.3) ENST00000487258(uc003ull.3)
    ENST00000487692 ENST00000463118 ENST00000486313 ENST00000493976 ENST00000359028
    ENST00000358100
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    Additional mRNA 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.95287324  DT.91666841  DT.431646 
    DT.40253873  DT.91767641  DT.121112386  DT.95337133  DT.121112521  DT.95113969  DT.97827477  DT.100027182 
    DT.213369  DT.100660446  DT.121112494  DT.75141107  DT.75196327  DT.75196239  DT.95287326 

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

    AI679660 AA429253 AV709316 BU743167 CB156387 AW630446 W87644 AI826572 
    CA419148 NM_147166 AF083037 BG571536 BX114750 AI168831 CB134771 BE501777 
    T50113 BC040932 AA693583 CD251824 CA449636 AL713507 BQ186337 NM_147185 

    GeneLoc Exon Structure

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

    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:                                                                                          


    ECgene alternative splicing isoforms for AKAP9

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AKAP9 expression in normal human tissues (normalized intensities)      AKAP9 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTGCCTAA
    AKAP9 Expression
    About this image


    AKAP9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Breast (Uncategorized)
             breast epithelium   
     
     Testis (Reproductive System)
             Testis Somatic Cells Primitive Gonad
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Endothelium (Cardiovascular System)
             Umbilical cord blood-derived endothelial progenitor cells
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad

    See AKAP9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKAP9

    SOURCE GeneReport for Unigene cluster: Hs.651221

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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for AKAP9 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akap91 , 5 A kinase (PRKA) anchor protein (yotiao) 91, 5 76.89(n)1
    71.28(a)1
      5 (2.26 cM)5
    1009861  NM_194462.21  NP_919444.21 
     39280545 
    chicken
    (Gallus gallus)
    Aves AKAP91 A kinase (PRKA) anchor protein (yotiao) 9 67.43(n)
    60.34(a)
      395695  NM_207179.2  NP_997062.2 
    lizard
    (Anolis carolinensis)
    Reptilia AKAP96
    A kinase (PRKA) anchor protein (yotiao) 9
    54(a)
    1 ↔ 1
    6(20976052-21082355)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.70102 Xenopus laevis transcribed sequence with weak similarity more 74.85(n)    BX855059.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.99642 Transcribed sequence with weak similarity to protein more 71.9(n)    57071001 
    worm
    (Caenorhabditis elegans)
    Secernentea lfi-16
    Protein LFI-1, isoform e
    7(a)
    1 → many
    X(4983066-4993236)


    ENSEMBL Gene Tree for AKAP9 (if available)
    TreeFam Gene Tree for AKAP9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKAP9 gene
    PCNT2  
    1 SIMAP similar gene for AKAP9 using alignment to 6 protein entries:     AKAP9_HUMAN (see all proteins):
    PCNT

    AKAP9 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for AKAP9
    PGOHUM00000238553 PGOHUM00000238572 PGOHUM00000238873


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3383 SNPs in AKAP9 are shown (see all 3383)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0434894
    Long QT syndrome 11 (LQT11)4--see VAR_0434892 S L mis40--------
    VAR_0357854
    A colorectal cancer sample4--see VAR_0357852 M I mis40--------
    VAR_0357864
    A breast cancer sample4--see VAR_0357862 E Q mis40--------
    rs1219085661,2
    Cpathogenic194976426(+) GATTTC/TAGTGT 4 S L mis10--------
    rs1407627281,2
    C--90901323(+) CTGGT-/TGT   
       GTGTG
    TGTGT
    2 -- int10--------
    rs107009541,2
    C--90901353(+) gtgtg-/TG/TGTGT
    G
    /TGTGTGTG
    AACGG
    4 -- int1 cds11NA 2
    rs105756471,2
    C--90906617(+) TGTGCGT/-GTGTG 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs737097461,2
    C--90906618(+) GTGCGC/TGTGTG 2 -- int11Minor allele frequency- T:0.50WA 2
    rs792551601,2
    C--90913259(+) CCCCC-/AC/CA 
            
    CCCAC
    2 -- int10--------
    rs568986541,2
    C--90913260(+) CCCCC-/ACCACA 2 -- int10--------

    HapMap Linkage Disequilibrium report for AKAP9 (91570181 - 91739987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AKAP9:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv888734CNV Loss21882294
    nsv5838CNV Loss18451855
    nsv888733CNV Gain21882294


    Human Gene Mutation Database (HGMD): AKAP9

    Locus Specific Mutation Databases (LSDB): AKAP9
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604001   
    OMIM disorders: 611820  
    UniProtKB/Swiss-Prot: AKAP9_HUMAN, Q99996
  • Long QT syndrome 11 (LQT11) [MIM:611820]: A heart disorder characterized by a prolonged QT interval on
    the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or
    emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 16 diseases for AKAP9:    About MalaCards
    long qt syndrome 11    long qt syndrome    papillary carcinoma    syncope
    papillary thyroid carcinoma    lung cancer    thyroiditis    thyroid cancer
    esophageal adenocarcinoma    schizophrenia    esophagitis    adenocarcinoma
    endotheliitis    hepatitis    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for AKAP9:
    Long QT syndrome

    AKAP9 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for AKAP9 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thyroid papillary carcinoma 54.4 2 16753739 (2)

    Genetic Association Database (GAD): AKAP9
    Human Genome Epidemiology (HuGE) Navigator: AKAP9 (9 documents)

    Export disorders for AKAP9 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AKAP9 gene, integrated from 9 sources (see all 84):
    (articles sorted by number of sources associating them with AKAP9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Yotiao, a novel protein of neuromuscular junction and brain that interacts with specific splice variants of NMDA receptor subunit NR1. (PubMed id 9482789)1, 2, 3 Lin J.W.... Sheng M. (1998)
    2. AKAP350 at the Golgi apparatus. II. Association of AKAP350 with a novel chloride intracellular channel (CLIC) family member. (PubMed id 12163479)1, 2, 9 Shanks R.A.... Goldenring J.R. (2002)
    3. AKAP350, a multiply spliced protein kinase A-anchoring protein associated with centrosomes. (PubMed id 9915845)1, 2, 9 Schmidt P.H.... Goldenring J.R. (1999)
    4. Characterization of a novel giant scaffolding protein, CG-NAP, that anchors multiple signaling enzymes to centrosome and the Golgi apparatus. (PubMed id 10358086)1, 2, 9 Takahashi M.... Ono Y. (1999)
    5. Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450. (PubMed id 10202149)1, 2, 9 Witczak O.... Oerstavik S. (1999)
    6. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. (PubMed id 18093912)1, 2, 9 Chen L....Kass R.S. (2007)
    7. International Lung Cancer Consortium: coordinated ass ociation study of 10 potential lung cancer susceptibility variants. (PubMed id 20106900)1, 4 Truong T....Hung R.J. (2010)
    8. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PubMed id 20453000)1, 4 Liu C.Y....Christiani D.C. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. Association of a common AKAP9 variant with breast cancer risk: a collaborative analysis. (PubMed id 18334708)1, 4 Frank B....Burwinkel B. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
    About This Section
    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 PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AKAP9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AKAP9 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AKAP9 gene:
    Search GeneIP for patents involving AKAP9

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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