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

AKAP8L Gene

protein-coding   GIFtS: 51
GCID: GC19M015490

A kinase (PRKA) anchor protein 8-like

 Explore 2 diseases affiliated with
AKAP8L via our new
 Human Malady Compendium 
Biological research products
for AKAP8L
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
A Kinase (PRKA) Anchor Protein 8-Like1 2     NAKAP2 3
HAP951 2 3     AKAP8-Like Protein2 3
NAKAP951 2 3     A-Kinase Anchor Protein 8-Like2
Homologous To AKAP95 Protein2 3     Helicase A-Binding Protein 95 KDa2
Neighbor Of A-Kinase-Anchoring Protein 952 3     Neighbor Of A Kinase Anchoring Protein 952
Neighbor Of AKAP952 3     Neighbor Of A-Kinase Anchoring Protein 952
HA952 3     Helicase A-Binding Protein 953

External Ids:    HGNC: 298571   Entrez Gene: 269932   Ensembl: ENSG000000112437   OMIM: 6094755   UniProtKB: Q9ULX63   

Export aliases for AKAP8L gene to outside databases

Previous GC identifers: GC19M015352 GC19M015353 GC19M015058


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

UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6
Function: Could play a role in constitutive transport element (CTE)-mediated gene expression. Does not seem to be
implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and chromatin
condensation. May regulate the initiation phase of DNA replication when associated with TMPO-beta

Gene Wiki entry for AKAP8L


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AKAP8L gene promoter:
         GCNF   Pax-2   Pax-2a   Egr-2   AREB6   PPAR-gamma1   GCNF-1   c-Myb   PPAR-gamma2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAKAP8L promoter sequence
   Search SABiosciences Chromatin IP Primers for AKAP8L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AKAP8L


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

Entrez Gene cytogenetic band: 19p13.12   Ensembl cytogenetic band:  19p13.12   HGNC cytogenetic band: 19p13.13-p13.12

AKAP8L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AKAP8L gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M015490:  view genomic region     (about GC identifiers)

Start:
15,490,859 bp from pter      End:
15,529,833 bp from pter
Size:
38,975 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6 (See protein sequence)
Recommended Name: A-kinase anchor protein 8-like  
Size: 646 amino acids; 71649 Da
Subunit: Interacts with PRPF40A (By similarity). Binds to the C-terminal of RNA helicase A and to TMPO-beta. Interacts
with RNF43
Subcellular location: Nucleus matrix. Cytoplasm. Note=Colocalizes with PRPF40A in the nuclear matrix (By similarity).
Nuclear at steady state but shuttles between the nucleus and cytoplasm. Associated with the nuclear matrix
Sequence caution: Sequence=AAF86048.1; Type=Frameshift; Positions=553; Sequence=BAA34791.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
Secondary accessions: B4DJ74 B5BU90 O94792 Q96J58 Q9NRQ0 Q9UGM0
Alternative splicing: 2 isoforms:  Q9ULX6-1   Q9ULX6-2   

Explore the universe of human proteins at neXtProt for AKAP8L: NX_Q9ULX6

Post-translational modifications:

  • Phosphorylated on serine or threonine residues possibly by PKA1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULX6

  • AKAP8L Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055186.2  
    ENSEMBL proteins: 
     ENSP00000380557  

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    Uscn Proteins for AKAP8L

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus TAS10761695
    GO:0005737cytoplasm IEA--
    GO:0016363nuclear matrix IDA16391387


    AKAP8L for ontologies           About GeneDecksing



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

    AKAP8L for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR007071 AKAP95

    Graphical View of Domain Structure for InterPro Entry Q9ULX6

    ProtoNet protein and cluster: Q9ULX6

    1 Blocks protein family: IPB007071 A-kinase anchoring protein 95 (AKAP95)

    UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6
    Similarity: Belongs to the AKAP95 family
    Similarity: Contains 2 C2H2 AKAP95-type zinc fingers


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6
    Function: Could play a role in constitutive transport element (CTE)-mediated gene expression. Does not seem to be
    implicated in the binding of regulatory subunit II of PKA. May be involved in nuclear envelope breakdown and chromatin
    condensation. May regulate the initiation phase of DNA replication when associated with TMPO-beta

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI18313049
    GO:0008270zinc ion binding IEA--
    GO:0017151DEAD/H-box RNA helicase binding TAS10748171


    AKAP8L for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for AKAP8L:
     Decreased Wnt reporter activit  Decreased viability  Increased apoptosis 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AKAP8L

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/22 Interacting proteins for AKAP8L (Q9ULX61, 2, 3 ENSP000003805574) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RELAQ042062, 3MINT-48011 MINT-48966 I2D: score=1 
    MAP3K3Q997592, 3MINT-48514 I2D: score=2 
    RNF43Q68DV71, 3, ENSP000003853284EBI-357530,EBI-1647060 I2D: score=2 STRING: ENSP00000385328
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=2 STRING: ENSP00000364847
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    AKAP8L for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 AKAP8L
    Search CenterWatch for drugs/clinical trials and news about AKAP8L / AKP8L 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AKAP8L gene: 
    NM_014371.2  

    Unigene Cluster for AKAP8L:

    A kinase (PRKA) anchor protein 8-like
    Hs.399800  [show with all ESTs]
    Unigene Representative Sequence: NM_014371
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000397410(uc002naw.1 uc002nax.1 uc010xoh.1 uc002nay.1 uc002naz.3)


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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AKAP8L
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    Additional cDNA sequence: 

    AB015332.1 AB025905.1 AB451326.1 AB451469.1 AF199414.1 AJ243467.1 AK094736.1 AK225046.1 
    AK225291.1 AK295956.1 AK310990.1 AL133576.1 BC000713.2 BC111792.1 BC131550.1 

    24/28 DOTS entries (see all 28):

    DT.97855002  DT.100671816  DT.95083638  DT.445973  DT.100814161  DT.86847148  DT.121496880  DT.95355366 
    DT.445974  DT.100814160  DT.100814154  DT.100814145  DT.100030475  DT.121496912  DT.100030474  DT.304905 
    DT.40129033  DT.121496925  DT.100814155  DT.91654626  DT.95355361  DT.100814156  DT.100814159  DT.121496748 

    24/447 AceView cDNA sequences (see all 447):

    AI089655 BQ446072 BU859399 BF439312 BM792137 AW849547 BQ675990 BF946367 
    BF432313 AI637831 BX461032 BI438836 BE675833 BQ888662 AI360314 BE707177 
    AI288252 AA709228 AL390184 AI887127 BE464352 AI597624 AI204693 BU931020 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for AKAP8L (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^
    SP1:                                                        -                                                                                         -         
    SP2:                                      -                 -                                                                                         -         
    SP3:                                      -                 -                                                                                         -         
    SP4:                                      -                 -                                                                                                   
    SP5:                                      -                 -                                                                                                   

    ExUns: 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18
    SP1:        -                                 
    SP2:        -                                 
    SP3:  -     -                                 
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for AKAP8L

    (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

    AKAP8L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGGCCCGCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See AKAP8L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AKAP8L

    SOURCE GeneReport for Unigene cluster: Hs.399800

    UniProtKB/Swiss-Prot: AKP8L_HUMAN, Q9ULX6
    Tissue specificity: Expressed in the brain cortex (at protein level)

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    In Situ
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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 chordates.

    Orthologs for AKAP8L gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Akap8l1 , 5 A kinase (PRKA) anchor protein 8-like1, 5 89.2(n)1
    92.96(a)1
      17 (17.50 cM)5
    541941  NM_017476.21  NP_059504.21 
     323214245 
    chicken
    (Gallus gallus)
    Aves AKAP8L1 A kinase (PRKA) anchor protein 8-like 68.37(n)
    67.25(a)
      776856  NM_001199537.1  NP_001186466.1 
    lizard
    (Anolis carolinensis)
    Reptilia AKAP8L6
    --
    65(a)
    1 ↔ 1
    2(103455312-103477139)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.101402 Transcribed sequence with weak similarity to protein more 75.17(n)    BX691185.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc52f042 wufc52f04 78.03(n)   325046  BM156308.1 


    ENSEMBL Gene Tree for AKAP8L (if available)
    TreeFam Gene Tree for AKAP8L (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AKAP8L gene
    AKAP82  ZNF3262  
    2 SIMAP similar genes for AKAP8L using alignment to 9 protein entries:     AKP8L_HUMAN (see all proteins):
    DKFZp434L0650    AKAP8

    AKAP8L for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/548 NCBI SNPs in AKAP8L are shown (see all 548    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs23662671,2
    C,F,A,H,--15492848(-) ACCCAG/ACAGTG 1 -- int126Minor allele frequency- A:0.27NS EA NA WA 2498
    rs1874041361,2
    --15492865(+) GCTGTC/GGATAA 1 -- int10--------
    rs1379604371,2
    --15492902(+) TCCCAC/TGGCAT 1 -- int10--------
    rs1927001761,2
    --15492903(+) CCCACA/GGCATT 1 -- int10--------
    rs1473737091,2
    C,--15493036(+) TTTTT-/TAAGACA 1 -- int10--------
    rs353952011,2
    C,F,--15493037(+) TTTTA-/AGACAG 1 -- int14Minor allele frequency- A:0.38NA CSA 8
    rs571327001,2
    C--15493037(+) TTTTTT/AAGACA 1 -- int12Minor allele frequency- A:0.00NA WA 4
    rs1834316401,2
    --15493399(+) CATTAC/TACTTA 1 -- int10--------
    rs798749501,2
    C--15493461(+) GCATTA/TACTTT 1 -- int10--------
    rs751882261,2
    F,--15493548(+) GCTGAT/CGCAGG 1 -- int11Minor allele frequency- C:0.06WA 118

    HapMap Linkage Disequilibrium report for AKAP8L (15490859 - 15529833 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AKAP8L: --

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AKAP8L for disorders           About GeneDecksing

    OMIM gene information: 609475    OMIM disorders: --

    2 diseases for AKAP8L:    About MalaCards
    huntington's disease    retinitis


    Export disorders for AKAP8L 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 AKAP8L gene, integrated from 9 sources (see all 42):
    (articles sorted by number of sources associating them with AKAP8L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification, cloning and characterization of a novel nuclear protein, HA95, homologous to A-kinase anchoring protein 95. (PubMed id 10761695)1, 2, 3, 9 Orstavik S.... Skalhegg B.S. (2000)
    2. A novel shuttle protein binds to RNA helicase A and activates the retroviral constitutive transport element. (PubMed id 10748171)1, 2, 3, 9 Westberg C.... Wong-Staal F. (2000)
    3. In vitro modulation of the interaction between HA95 and LAP2beta by cAMP signaling. (PubMed id 12950172)1, 2, 9 Martins S.B.... Collas P. (2003)
    4. cDNA cloning of a novel human gene NAKAP95, neighbor of A-kinase anchoring protein 95 (AKAP95) on chromosome 19p13.11-p13.12 region. (PubMed id 10697960)1, 2, 9 Seki N.... Muramatsu M.-A. (2000)
    5. A cancer-associated RING finger protein, RNF43, is a ubiquitin ligase that interacts with a nuclear protein, HAP95. (PubMed id 18313049)1, 2 Sugiura T.... Miyamoto K. (2008)
    6. Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis. (PubMed id 16391387)1, 2 Sayer J.A....Coghlan V.M. (2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. HA95 and LAP2 beta mediate a novel chromatin-nuclear envelope interaction implicated in initiation of DNA replication. (PubMed id 12538639)1, 2 Martins S.... Collas P. (2003)
    10. Selection system for genes encoding nuclear-targeted proteins. (PubMed id 9853615)1, 2 Ueki N.... Muramatsu M.-A. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26993 HGNC: 29857 AceView: AKAP8 Ensembl:ENSG00000011243 euGenes: HUgn26993
    ECgene: AKAP8L H-InvDB: AKAP8L

    (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 AKAP8L 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 AKAP8L gene:
    Search GeneIP for patents involving AKAP8L

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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