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

AKAP12 Gene

protein-coding   GIFtS: 64
GCID: GC06P151561

A Kinase (PRKA) Anchor Protein 12

(Previous name: A kinase (PRKA) anchor protein (gravin) 12)
  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 121 2     A-Kinase Anchor Protein, 250kDa2
Src-Suppressed C Kinase Substrate1 2     Kinase Scaffold Protein Gravin2
AKAP2502 3     Myasthenia Gravis Autoantigen Gravin2
AKAP 2502 3     AKAP-123
A Kinase (PRKA) Anchor Protein (Gravin) 121     Gravin3
gravin1     A-Kinase Anchor Protein 250 KDa3
SSeCKS2     Myasthenia Gravis Autoantigen3
A-Kinase Anchor Protein 122     

External Ids:    HGNC: 3701   Entrez Gene: 95902   Ensembl: ENSG000001310167   OMIM: 6046985   UniProtKB: Q029523   

Export aliases for AKAP12 gene to outside databases

Previous GC identifers: GC06P151122 GC06P151456 GC06P151592 GC06P151653 GC06P149123


(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 AKAP12 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. The encoded protein is expressed in endothelial
cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase,
and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell
periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients
with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different
isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for AKAP12 Gene: 
AKAP12 (A kinase (PRKA) anchor protein 12) is a protein-coding gene. Diseases associated with AKAP12 include myasthenia gravis, and osteosarcoma, 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 A binding and adenylate cyclase binding.

UniProtKB/Swiss-Prot: AKA12_HUMAN, Q02952
Function: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein
kinase C (PKC)

Gene Wiki entry for AKAP12 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 AKAP12 gene promoter:
         GR   NF-1   NF-1/L   AML1a   GR-beta   STAT5A   HEN1   HFH-1   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): AKAP12 promoter sequence
   Search SABiosciences Chromatin IP Primers for AKAP12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKAP12


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

Entrez Gene cytogenetic band: 6q24-q25   Ensembl cytogenetic band:  6q25.1   HGNC cytogenetic band: 6q24-q25

AKAP12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP12 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P151561:  view genomic region     (about GC identifiers)

Start:
151,561,134 bp from pter      End:
151,679,694 bp from pter
Size:
118,561 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: AKA12_HUMAN, Q02952 (See protein sequence)
Recommended Name: A-kinase anchor protein 12  
Size: 1782 amino acids; 191482 Da
Subunit: Binds to dimeric RII-alpha regulatory subunit of PKC
Subcellular location: Cytoplasm, cell cortex (Probable). Cytoplasm, cytoskeleton (Probable). Note=May be part of
the cortical cytoskeleton
Miscellaneous: Antibodies against the C-terminal of gravin can be produced by patients with myasthenia gravis (MG)
Sequence caution: Sequence=BAE06085.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O00310 O00498 Q4LE68 Q5SZ80 Q5TGN1 Q68D82 Q99970
Alternative splicing: 3 isoforms:  Q02952-1   Q02952-2   Q02952-3   

Explore the universe of human proteins at neXtProt for AKAP12: NX_Q02952

Explore proteomics data for AKAP12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q02952

  • AKAP12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AKAP12 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005091.2  NP_653080.1  

    ENSEMBL proteins: 
     ENSP00000253332   ENSP00000346702   ENSP00000384537   ENSP00000352794  

    Human Recombinant Protein Products for AKAP12: 
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    Cloud-Clone Corp. Proteins for AKAP12 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IDA--
    GO:0005938cell cortex IEA--

    AKAP12 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

    2 InterPro protein domains:
     IPR018459 RII_binding_1
     IPR001573 Pkinase-A_anch_WSK-motif

    Graphical View of Domain Structure for InterPro Entry Q02952

    ProtoNet protein and cluster: Q02952

    1 Blocks protein domain: IPB001573 Protein kinase A anchoring domain

    UniProtKB/Swiss-Prot: AKA12_HUMAN, Q02952
    Domain: Polybasic regions located between residues 266 and 557 are involved in binding PKC
    Similarity: Contains 3 AKAP domains


    AKAP12 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: AKA12_HUMAN, Q02952
    Function: Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA) and protein
    kinase C (PKC)
    Induction: Activated by lysophosphatidylcholine (lysoPC)

         Genatlas biochemistry entry for AKAP12:
    A kinase (PRKA regulatory subunits PRKC and RIIA) anchor protein 12,expressed in endothelial cells and several
    adherent cells

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008179adenylate cyclase binding IPI17081159
    GO:0051018protein kinase A binding TAS10858453
         
    AKAP12 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for AKAP12:
     Cell division defect  Increased G2M DNA content 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Akap12):
     behavior/neurological  cardiovascular system  endocrine/exocrine gland  hematopoietic system  immune system 
     liver/biliary system  mortality/aging  nervous system  normal  reproductive system 
     respiratory system 

    AKAP12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Akap12tm1Ihg for AKAP12

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AKAP12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AKAP12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AKAP12 
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    hsa-mir-186 (MIRT005871), hsa-mir-183 (MIRT005870)

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    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate AKAP12 (see all 61):
    hsa-miR-4291 hsa-miR-300 hsa-miR-15a hsa-let-7a-2* hsa-miR-219-5p hsa-miR-29b-1* hsa-miR-3916 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidAKAP12 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 AKAP12 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 AKAP12
        Signal transduction PKA signaling

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for AKAP12
        Activation of PKA through GPCR
    PKA Signaling
    cAMP Pathway
    Activation of cAMP-Dependent PKA

    1 GeneGo (Thomson Reuters) Pathway for AKAP12
        Signal transduction PKA signaling

    1 BioSystems Pathway for AKAP12
        G Protein Signaling Pathways



    AKAP12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKAP12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/10 Interacting proteins for AKAP12 (Q029521, 2, 3 ENSP000002533324) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FHL1Q136422, 3, ENSP000003597244MINT-8255365 I2D: score=3 STRING: ENSP00000359724
    PRKAR2AP138612, 3, ENSP000002655634MINT-2411858 I2D: score=3 STRING: ENSP00000265563
    PDE4DQ084992, 3, ENSP000003848064MINT-2411838 I2D: score=1 STRING: ENSP00000384806
    EGFRP005331, 3, ENSP000002754934EBI-2562430,EBI-297353 I2D: score=2 STRING: ENSP00000275493
    ADRB2P075503, ENSP000003053724I2D: score=2 STRING: ENSP00000305372
    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:0006605protein targeting IEA--
    GO:0007165signal transduction ----
    GO:0007186G-protein coupled receptor signaling pathway TAS10858453
    GO:0010739positive regulation of protein kinase A signaling cascade IMP17081159
    GO:0030819positive regulation of cAMP biosynthetic process IMP17081159

    AKAP12 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

    AKAP12 for compounds           About GeneDecksing

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

    Browse Tocris compounds for AKAP12 (AKA12)

    1 Novoseek inferred chemical compound relationship for AKAP12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 0 1 14715081 (1)

    Search CenterWatch for drugs/clinical trials and news about AKAP12 / AKA12

    (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 AKAP12 gene (2 alternative transcripts): 
    NM_005100.3  NM_144497.2  

    Unigene Cluster for AKAP12:

    A kinase (PRKA) anchor protein 12
    Hs.371240  [show with all ESTs]
    Unigene Representative Sequence: NM_005100
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253332 ENST00000354675 ENST00000490177 ENST00000402676(uc011eep.2 uc003qoe.3 uc003qof.3 uc010kim.3 uc003qog.3)
    ENST00000359755
    miRNA
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    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate AKAP12 (see all 61):
    hsa-miR-4291 hsa-miR-300 hsa-miR-15a hsa-let-7a-2* hsa-miR-219-5p hsa-miR-29b-1* hsa-miR-3916 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidAKAP12 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB003476.1 AB210003.1 AF001504.1 AF086250.1 AK024598.1 AK126161.1 AK307578.1 AK307673.1 
    AK307739.1 BC000188.1 BC015830.1 BC022814.1 BC033829.1 BC047728.1 BC070151.1 BC117679.1 
    BC117680.1 CR749527.1 CR936604.1 M96322.1 U81607.1 

    14 DOTS entries:

    DT.95170629  DT.100823862  DT.100823860  DT.97843539  DT.87016407  DT.75106825  DT.100031427  DT.75138132 
    DT.100680885  DT.91650893  DT.97800929  DT.121362334  DT.40132830  DT.95170641 

    24/362 AceView cDNA sequences (see all 362):

    BU542448 AL040822 AA699718 AL040086 BM729126 AL041657 BQ919238 CB158171 
    BU149157 CA392550 AL119021 BM461663 CA396125 BF339175 AI384007 BQ432119 
    AL041580 BQ772759 BF114967 AI078016 AI342300 BG112901 BC047728 AA382631 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP12 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b
    SP1:        -                             -     -     -     -                                 
    SP2:                                      -     -     -     -                                 
    SP3:                                                                                          
    SP4:                                      -     -     -     -     -     -     -               
    SP5:                                                        -                                 


    ECgene alternative splicing isoforms for AKAP12

    (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

    AKAP12 expression in normal human tissues (normalized intensities)      AKAP12 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTTGCCTCT
    AKAP12 Expression
    About this image


    AKAP12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Olfactory Bulb   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Human Schwann Cells (HSC)   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H7 (WA07)
     
     Gonad
             XY Germ Cells Testis Cord

    See AKAP12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKAP12

    SOURCE GeneReport for Unigene cluster: Hs.371240

    UniProtKB/Swiss-Prot: AKA12_HUMAN, Q02952
    Tissue specificity: Expressed in endothelial cells, cultured fibroblasts and osteosarcoma, but not in platelets,
    leukocytes, monocytic cell lines or peripherical blood cells

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AKAP12

    (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 and fungi.

    Orthologs for AKAP12 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akap121 , 5 A kinase (PRKA) anchor protein (gravin) 121, 5 71.18(n)1
    61.28(a)1
      10 (2.06 cM)5
    833971  NM_031185.31  NP_112462.11 
     42663295 
    chicken
    (Gallus gallus)
    Aves --
    GGA.428336
    Uncharacterized protein
    4(a)
    28(a)
    possible ortholog
    1 ↔ 1
    25(1144608-1151966)
    3(48114482-48136195)
    lizard
    (Anolis carolinensis)
    Reptilia AKAP126
    Uncharacterized protein
    46(a)
    1 ↔ 1
    GL343259.1(1111045-1116690)
    African clawed frog
    (Xenopus laevis)
    Amphibia gl2 gravin-like 75.07(n)    AF308810.1 
    zebrafish
    (Danio rerio)
    Actinopterygii akap12b1 A kinase (PRKA) anchor protein (gravin) 12b 49.14(n)
    38.91(a)
      567365  NM_001098184.1  NP_001091654.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG425886
    Su(var)2-HP26
    (see all 10)
    Su(var)2-HP2
    (see all 10)
    9(a)
    7(a)
    (see all 10)
    1 ↔ many
    possible ortholog
    (see all 10)
    3L(12807354-12817750)
    2R(10494659-10505550)
    worm
    (Caenorhabditis elegans)
    Secernentea H11E01.36
    hsr-96
    (see all 9)
    Protein HSR-9
    (see all 9)
    4(a)
    3(a)
    (see all 9)
    possible ortholog
    possible ortholog
    (see all 9)
    X(1604906-1619150)
    I(9626260-9630847)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YFR016C6
    Putative protein of unknown function; green fluore...
    5(a)
    1 → many
    VI(177042-180743)


    ENSEMBL Gene Tree for AKAP12 (if available)
    TreeFam Gene Tree for AKAP12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKAP12 gene
    1 SIMAP similar gene for AKAP12 using alignment to 3 protein entries:     AKA12_HUMAN (see all proteins):
    DKFZp686M0430

    AKAP12 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

    10/3088 SNPs in AKAP12 are shown (see all 3088)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357804
    A colorectal cancer sample4--see VAR_0357802 E K mis40--------
    rs1123327541,2
    C,F--151558216(+) TGGCAC/TGATCT 1 -- us2k12Minor allele frequency- T:0.50CSA 4
    rs1887304371,2
    --151558254(+) GTTCAA/GGCAGT 1 -- us2k10--------
    rs1915990691,2
    --151558320(+) GGCTAA/CTTTTT 1 -- us2k10--------
    rs1131463831,2
    C--151558330(+) TGTACT/-TTTAG 1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs1396075851,2
    C--151558342(+) AGAGAC/TGGGGT 1 -- us2k10--------
    rs1836040451,2
    --151558514(+) GCCACA/GTTTCA 1 -- us2k10--------
    rs1887086731,2
    --151558674(+) TCTCCA/GGGCCT 1 -- us2k10--------
    rs1497394541,2
    --151558730(+) ATCCCA/GTGGGG 1 -- us2k10--------
    rs69069051,2
    C,F,A,H--151558757(+) tatgtA/Gaagtg 1 -- us2k116Minor allele frequency- G:0.10NS EA NA CSA WA 1736

    HapMap Linkage Disequilibrium report for AKAP12 (151561134 - 151679694 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for AKAP12:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1163e199CNV Deletion23128226
    esv2410237CNV Deletion18987734
    esv2732898CNV Deletion23290073
    esv2732897CNV Deletion23290073
    esv2664668CNV Deletion23128226
    nsv5541CNV Insertion18451855
    nsv518240CNV Loss19592680
    nsv519279CNV Loss19592680
    nsv521795CNV Loss19592680
    nsv349261CNV Loss16902084

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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: 604698    OMIM disorders: --

    20/21 diseases for AKAP12 (see all 21):    About MalaCards
    myasthenia gravis    osteosarcoma    pancreatic ductal adenocarcinoma    endotheliitis
    fibrosarcoma    chronic myeloid leukemia    thrombosis    kidney disease
    myeloid leukemia    hypoxia    colorectal cancer    esophagitis
    adenocarcinoma    retinitis    pancreatitis    lung cancer
    leukemia    prostate cancer    prostatitis    hepatitis


    AKAP12 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for AKAP12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 9.64 4 15258566 (1), 18554502 (1), 17442483 (1), 20227403 (1)
    tumors 2.02 9 17442483 (3), 18579430 (1), 18199717 (1), 15496411 (1) (see all 6)

    Genetic Association Database (GAD): AKAP12
    Human Genome Epidemiology (HuGE) Navigator: AKAP12 (3 documents)

    Export disorders for AKAP12 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 AKAP12 gene, integrated from 9 sources (see all 75):
    (articles sorted by number of sources associating them with AKAP12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gravin, an autoantigen recognized by serum from myasthenia gravis patients, is a kinase scaffold protein. (PubMed id 9000000)1, 2, 3 Nauert J.B.... Scott J.D. (1997)
    2. Association of genetic variants with hemorrhagic stro ke in Japanese individuals. (PubMed id 20198315)1, 4 Yoshida T....Yamada Y. (2010)
    3. Assessment of a polymorphism of SDK1 with hypertensio n in Japanese Individuals. (PubMed id 19851296)1, 4 Oguri M....Yamada Y. (2010)
    4. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PubMed id 19724895)1, 4 Yoshida T....Yamada Y. (2009)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    6. Changes of gene expression by lysophosphatidylcholine in vascular endothelial cells: 12 up-regulated distinct genes including 5 cell growth-related, 3 thrombosis-related, and 4 others. (PubMed id 9604001)1, 2 Sato N.... Miyata T. (1998)
    7. Molecular cloning and preliminary characterization of a novel cytoplasmic antigen recognized by myasthenia gravis sera. (PubMed id 1522245)1, 2 Gordon T.... Ginsberg M.H. (1992)
    8. Hypermethylation of the AKAP12 promoter is a biomarker of Barrett's-associated esophageal neoplastic progression. (PubMed id 18199717)1, 9 Jin Z....Meltzer S.J. (2008)
    9. Multiple promoters direct expression of three AKAP12 isoforms with distinct subcellular and tissue distribution profiles. (PubMed id 15496411)2, 9 Streb J.W.... Miano J.M. (2004)
    10. G-protein-coupled receptor-associated A-kinase anchoring proteins AKAP5 and AKAP12: differential trafficking and distribution. (PubMed id 18950703)1, 9 Chen M.H. and Malbon C.C. (2009)

    (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: 9590 HGNC: 370 AceView: AKAP12 Ensembl:ENSG00000131016 euGenes: HUgn9590
    ECgene: AKAP12 H-InvDB: AKAP12

    (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 AKAP12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AKAP12 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 AKAP12 gene:
    Search GeneIP for patents involving AKAP12

    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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