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

AKAP7 Gene

protein-coding   GIFtS: 62
GCID: GC06P131508

A Kinase (PRKA) Anchor Protein 7

  See related disease
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 71 2     PRKA7 Isoform Gamma2 3
AKAP152 3     PRKA7 Isoforms Alpha/Beta2 3
AKAP182 3     A-Kinase Anchor Protein 7 Isoform Gamma2
A-Kinase Anchor Protein 18 KDa2 3     A-Kinase Anchor Protein 7 Isoforms Alpha And Beta2
AKAP 182 3     A-Kinase Anchor Protein 9 KDa2
AKAP-7 Isoform Gamma2 3     Protein Kinase A-Anchoring Protein 7 Isoform Gamma3
AKAP-7 Isoforms Alpha And Beta2 3     Protein Kinase A-Anchoring Protein 7 Isoforms Alpha/Beta3

External Ids:    HGNC: 3771   Entrez Gene: 94652   Ensembl: ENSG000001185077   OMIM: 6046935   UniProtKB: O436873   
UniProtKB: Q9P0M23   

Export aliases for AKAP7 gene to outside databases

Previous GC identifers: GC06P131126 GC06P131313 GC06P131447 GC06P129047


(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 AKAP7 Gene:
This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related
proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme
to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting
motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript
variants encoding different isoforms have been described.(provided by RefSeq, Apr 2011)

GeneCards Summary for AKAP7 Gene: 
AKAP7 (A kinase (PRKA) anchor protein 7) is a protein-coding gene. Diseases associated with AKAP7 include febrile seizures, and among its related super-pathways are Activation of cAMP-Dependent PKA and Signal transduction PKA signaling. GO annotations related to this gene include protein kinase binding and protein C-terminus binding.

UniProtKB/Swiss-Prot: AKA7G_HUMAN, Q9P0M2
Function: Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal
structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free
cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium

Gene Wiki entry for AKAP7 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_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKAP7 gene promoter:
         LHX3b/Lhx3b   Pbx1a   AP-1   Brachyury   CUTL1   GATA-1   HEN1   c-Myb   LHX3a/Lhx3a   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AKAP7 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKAP7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKAP7


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

Entrez Gene cytogenetic band: 6q23   Ensembl cytogenetic band:  6q23.2   HGNC cytogenetic band: 6q23.2

AKAP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP7 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P131508:  view genomic region     (about GC identifiers)

Start:
131,456,806 bp from pter      End:
131,604,675 bp from pter
Size:
147,870 bases      Orientation:
plus strand

(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: AKA7A_HUMAN, O43687 (See protein sequence)
Recommended Name: A-kinase anchor protein 7 isoforms alpha and beta  
Size: 104 amino acids; 11465 Da
Subunit: Binds cAMP-dependent protein kinase (PKA). Interacts with PRKCA; only the cytoplasmic form is capable of
interacting with PRKCA
Subcellular location: Isoform Alpha: Lateral cell membrane; Lipid-anchor. Note=Targeted predominantly to the
lateral membrane
Subcellular location: Isoform Beta: Apical cell membrane; Lipid-anchor. Note=Targeted predominantly to the apical
membrane
Secondary accessions: A8K2K6 Q5TBR9 Q5TBS0 Q9HCZ8 Q9P0G4
Alternative splicing: 3 isoforms:  O43687-1   O43687-2   Q9P0M2-1   

UniProtKB/Swiss-Prot: AKA7G_HUMAN, Q9P0M2 (See protein sequence)

Recommended Name: A-kinase anchor protein 7 isoform gamma  
Size: 348 amino acids; 39518 Da
Subunit: Binds cAMP-dependent protein kinase (PKA). Interacts with PRKCA; only the cytoplasmic form is capable of
interacting with PRKCA
Subcellular location: Nucleus (By similarity). Cytoplasm
Sequence caution: Sequence=AAF28106.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAI19003.1; Type=Erroneous gene model prediction; Sequence=CAI19788.1; Type=Erroneous gene model
prediction; Sequence=CAI21509.1; Type=Erroneous gene model prediction;
Secondary accessions: B4DUC3 Q9HCZ8
Alternative splicing: 3 isoforms:  Q9P0M2-1   O43687-2   O43687-1   

Explore the universe of human proteins at neXtProt for AKAP7: NX_Q9P0M2

Explore proteomics data for AKAP7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P0M2

  • AKAP7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKAP7 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_004833.1  NP_057461.2  NP_619539.1  

    ENSEMBL proteins: 
     ENSP00000405252   ENSP00000441048   ENSP00000445486   ENSP00000446022   ENSP00000263050  
     ENSP00000345149   ENSP00000418208   ENSP00000357105  

    Human Recombinant Protein Products for AKAP7: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for AKAP7
    Cloud-Clone Corp. Proteins for AKAP7 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005829cytosol IDA10613906
    GO:0005886plasma membrane TAS10613906

    AKAP7 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: 
    AKAP: A-kinase anchor proteins

    3 InterPro protein domains:
     IPR019510 Kinase-A_anchor_nucl_local_sig
     IPR019511 Kinase-A_anchor_RI-RII-bd_dom
     IPR009097 RNA_ligase/cNuc_Pdiesterase

    Graphical View of Domain Structure for InterPro Entry O43687
    Graphical View of Domain Structure for InterPro Entry Q9P0M2

    ProtoNet protein and cluster: O43687


    AKAP7 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: AKA7A_HUMAN, O43687
    Function: Targets the cAMP-dependent protein kinase (PKA) to the plasma membrane, and permits functional coupling
    to the L-type calcium channel. The membrane-associated form reduces epithelial sodium channel (ENaC) activity,
    whereas the free cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular
    sodium

         UniProtKB/Swiss-Prot: AKA7G_HUMAN, Q9P0M2
    Function: Probably targets cAMP-dependent protein kinase (PKA) to the cellular membrane or cytoskeletal
    structures. The membrane-associated form reduces epithelial sodium channel (ENaC) activity, whereas the free
    cytoplasmic form may negatively regulate ENaC channel feedback inhibition by intracellular sodium

         Genatlas biochemistry entry for AKAP7:
    A kinase (PRKA regulatory subunit RIIA) anchor protein 7,potentially involved in ion channel activation

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity IEA--
    GO:0005515protein binding IPI17244820
    GO:0008022protein C-terminus binding IEA--
    GO:0016208AMP binding IEA--
    GO:0019901protein kinase binding IEA--
         
    AKAP7 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for AKAP7:
     Decreased cilium length  Decreased cilium length after   Increased apoptosis 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Akap7):
     no phenotypic analysis  normal 

    AKAP7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Akap7tm1.1Gsm for AKAP7

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AKAP7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AKAP7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKAP7 
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    SwitchGear 3'UTR luciferase reporter plasmidAKAP7 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 AKAP7 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Signal transduction PKA signaling
    Signal transduction PKA signaling1.00
    3Signal transduction cAMP signaling
    G Protein Signaling Pathways0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AKAP7
        Signal transduction PKA signaling

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AKAP7
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 GeneGo (Thomson Reuters) Pathway for AKAP7
        Signal transduction PKA signaling

    1 BioSystems Pathway for AKAP7
        G Protein Signaling Pathways




    AKAP7 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AKAP7

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

    5/6 Interacting proteins for AKAP7 (Q9P0M23 ENSP000003571054) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP4ENSP000002655604STRING: ENSP00000265560
    PRKAR1AENSP000003514104STRING: ENSP00000351410
    PRKAR2AENSP000002655634STRING: ENSP00000265563
    PLNENSP000003501324STRING: ENSP00000350132
    MEPCEENSP000003085464STRING: ENSP00000308546
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001508regulation of action potential IC11299204
    GO:0006811ion transport TAS9545239
    GO:0008104protein localization IC9545239
    GO:0008150biological_process ND--
    GO:0010738regulation of protein kinase A signaling cascade IEA--

    AKAP7 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AKAP7 (AKA7G)

    2 HMDB Compounds for AKAP7    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    Search CenterWatch for drugs/clinical trials and news about AKAP7 / AKA7G

    (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 AKAP7 gene (3 alternative transcripts): 
    NM_004842.3  NM_016377.3  NM_138633.2  

    Unigene Cluster for AKAP7:

    A kinase (PRKA) anchor protein 7
    Hs.486483  [show with all ESTs]
    Unigene Representative Sequence: NM_016377
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000431975(uc003qck.3) ENST00000541650 ENST00000366358 ENST00000479599
    ENST00000543815 ENST00000535150 ENST00000537868 ENST00000263050 ENST00000342266(uc003qcm.2 uc003qcn.2)
    ENST00000474850 ENST00000368123
    miRNA
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    Additional mRNA sequence: 

    AB451273.1 AB451400.1 AF152929.1 AF161075.1 AK290271.1 AK300587.1 AK311820.1 BC016927.1 
    BC063499.1 BC073847.1 BC094732.1 BC110897.1 BC118601.1 BC118606.1 BC128398.1 BC128399.1 
    BC141926.1 BC141927.1 

    7 DOTS entries:

    DT.95168642  DT.100893038  DT.95168640  DT.91734681  DT.91734687  DT.121353614  DT.121353629 

    24/111 AceView cDNA sequences (see all 111):

    BC016927 BC073847 CD636473 BE501560 CF552329 CA412227 AW181947 CK820029 
    AL540310 NM_016377 BF058265 AL537713 AW236482 NM_138633 BG105437 AU107912 
    CF552349 BI522503 BM354051 CR618092 CK820028 BX420398 AI554010 F09550 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP7    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                            -                     
    SP4:                                            -     -     -         


    ECgene alternative splicing isoforms for AKAP7

    (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

    AKAP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCTTAATA
    AKAP7 Expression
    About this image


    See AKAP7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKAP7

    SOURCE GeneReport for Unigene cluster: Hs.486483

    UniProtKB/Swiss-Prot: AKA7A_HUMAN, O43687
    Tissue specificity: Expressed in brain, heart, lung, pancreas and skeletal muscle

    UniProtKB/Swiss-Prot: AKA7G_HUMAN, Q9P0M2
    Tissue specificity: Expressed in brain, heart, lung, pancreas and placenta

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP7

    (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 chordates.

    Orthologs for AKAP7 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akap71 , 5 A kinase (PRKA) anchor protein 71, 5 81.78(n)1
    79.74(a)1
      10 (12.26 cM)5
    4324421  NM_018747.41  NP_061217.31 
     251690905 
    chicken
    (Gallus gallus)
    Aves AKAP71 A kinase (PRKA) anchor protein 7 64.52(n)
    56.73(a)
      426926  XM_424536.3  XP_424536.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    AKAP76
    A kinase (PRKA) anchor protein 7
    67(a)
    51(a)
    possible ortholog
    1 ↔ 1
    1(204059630-204059827)
    1(203957114-204037755)
    zebrafish
    (Danio rerio)
    Actinopterygii akap76
    A kinase (PRKA) anchor protein 7
    32(a)
    1 ↔ 1
    20(2448526-2510462)


    ENSEMBL Gene Tree for AKAP7 (if available)
    TreeFam Gene Tree for AKAP7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKAP7 gene
    1 SIMAP similar gene for AKAP7 using alignment to 8 protein entries:     AKA7A_HUMAN (see all proteins):
    C18orf42

    AKAP7 for paralogs           About GeneDecksing



    (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

    10/2826 SNPs in AKAP7 are shown (see all 2826)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2014438251,2
    C--129039218(+) AACTT-/CAAGTTGA 1 -- cds10--------
    rs1421087551,2
    C--129056888(+) TCCCT-/GTTTTT 1 -- int10--------
    rs587155511,2
    C--129056908(+) TTTTT-/TT/T  
     TT
    /TTTT
    AATGT
    1 -- int11NA 2
    rs73835281,2
    C--129072718(+) AAAAGA/GAAAAA 1 -- int1 trp30--------
    rs1456333241,2
    C--129081575(+) TTCGG-/TTTTTT 1 -- int10--------
    rs2016974301,2
    --129081582(+) TTTTT-/TTTG  
            
    TTTGT
    1 -- int10--------
    rs612310871,2
    C--129082297(+) AATAAA/TTAATA 1 -- int10--------
    rs574817951,2
    C--129082298(+) ATAAAA/TAATAA 1 -- int10--------
    rs3681668411,2
    C--129083215(+) ACTTTC/TTTTTT 1 -- int10--------
    rs779305481,2
    C--129086711(+) GCAGGA/GGGGTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for AKAP7 (131456806 - 131604675 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AKAP7:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv507362CNV Insertion20534489
    nsv830808CNV Loss17160897
    nsv830807CNV Loss17160897
    nsv886665CNV Gain21882294
    nsv886664CNV Gain21882294
    nsv886666CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604693    OMIM disorders: --

    2 diseases for AKAP7:    About MalaCards
    febrile seizures    


    AKAP7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AKAP7
    Human Genome Epidemiology (HuGE) Navigator: AKAP7 (1 document)

    Export disorders for AKAP7 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 AKAP7 gene, integrated from 9 sources (see all 22):
    (articles sorted by number of sources associating them with AKAP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Alternative splicing regulates the subcellular localization of A- kinase anchoring protein 18 isoforms. (PubMed id 10613906)1, 2, 9 Trotter K.W....Milgram S.L. (1999)
    2. 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)
    3. The A-kinase anchoring protein 15 regulates feedback inhibition of the epithelial Na+ channel. (PubMed id 17244820)1, 2 Bengrine A....Awayda M.S. (2007)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. A novel lipid-anchored A-kinase anchoring protein facilitates cAMP- responsive membrane events. (PubMed id 9545239)1, 3 Fraser I.D.C.... Scott J.D. (1998)
    6. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    7. The CCND1 c.870G>A polymorphism is a risk factor fo r t(11;14)(q13;q32) multiple myeloma. (PubMed id 23502783)1 Weinhold N....Hemminki K. (2013)
    8. Spatiotemporal regulation of PKC via interactions with AKAP7 isoforms. (PubMed id 22670899)1 Redden J.M....Dodge-Kafka K.L. (2012)
    9. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    10. AKAP18 contains a phosphoesterase domain that binds AMP. (PubMed id 18082768)1 Gold M.G....Barford D. (2008)

    (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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9465 HGNC: 377 AceView: AKAP7 Ensembl:ENSG00000118507 euGenes: HUgn9465
    ECgene: AKAP7 H-InvDB: AKAP7

    (According to HUGE)
    About This Section
      --

    (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 AKAP7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AKAP7 gene:
    Search GeneIP for patents involving AKAP7

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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