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AHNAK Gene

protein-coding   GIFtS: 55
GCID: GC11M062202

AHNAK Nucleoprotein

(Previous name: AHNAK nucleoprotein (desmoyokin))
Microbiology & Infectious Diseases Congress
  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)
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Aliases
AHNAK Nucleoprotein1 2     AHNAKRS2
desmoyokin1 2     Neuroblast Differentiation-Associated Protein AHNAK2
AHNAK Nucleoprotein (Desmoyokin)1     Desmoyokin3
AHNAK-related2     PM2273

External Ids:    HGNC: 3471   Entrez Gene: 790262   Ensembl: ENSG000001249427   OMIM: 1033905   UniProtKB: Q096663   

Export aliases for AHNAK gene to outside databases

Previous GC identifers: GC11U990003 GC11M063859 GC11M062535 GC11M062059 GC11M062040 GC11M058529


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AHNAK Gene:
AHNAK (AHNAK nucleoprotein) is a protein-coding gene. Diseases associated with AHNAK include skeletal muscle regeneration, and limb-girdle muscular dystrophy. An important paralog of this gene is PRX.

UniProtKB/Swiss-Prot: AHNK_HUMAN, Q09666
Function: May be required for neuronal cell differentiation

Gene Wiki entry for AHNAK 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AHNAK gene promoter:
         Bach1   Elk-1   Spz1   Pax-5   HTF   FOXD3   RelA   LUN-1   Egr-2   Hlf   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for AHNAK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AHNAK


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

Entrez Gene cytogenetic band: 11q12.2   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q12-q13

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M062202:  view genomic region     (about GC identifiers)

Start:
62,201,016 bp from pter      End:
62,323,707 bp from pter
Size:
122,692 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AHNK_HUMAN, Q09666 (See protein sequence)
Recommended Name: Neuroblast differentiation-associated protein AHNAK  
Size: 5890 amino acids; 629101 Da
Subunit: Interacts with DYSF; the interaction is direct and Ca(2+)-independent
Sequence caution: Sequence=AAA69899.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for AHNAK:
4DRW (3D)        4FTG (3D)        4HRG (3D)    
Secondary accessions: A1A586
Alternative splicing: 2 isoforms:  Q09666-1   Q09666-2   

Explore the universe of human proteins at neXtProt for AHNAK: NX_Q09666

Explore proteomics data for AHNAK at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AHNAK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001611.1  NP_076965.2  

    ENSEMBL proteins: 
     ENSP00000433789   ENSP00000257247   ENSP00000433635   ENSP00000367263   ENSP00000433286  
     ENSP00000435357   ENSP00000436845  

    AHNAK Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for AHNAK
    OriGene Protein Over-expression Lysate for AHNAK
    OriGene MassSpec for AHNAK
    OriGene Custom Protein Services for AHNAK
    GenScript Custom Purified and Recombinant Proteins Services for AHNAK
    Novus Biologicals AHNAK Proteins
    Novus Biologicals AHNAK Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AHNAK

    AHNAK Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for AHNAK
    Cloud-Clone Corp. Antibodies for AHNAK
    ThermoFisher Antibody for AHNAK
    LSBio Antibodies in human, mouse, rat for AHNAK

    AHNAK Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AHNAK
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AHNAK
    Cloud-Clone Corp. CLIAs for AHNAK


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q09666

    ProtoNet protein and cluster: Q09666

    UniProtKB/Swiss-Prot: AHNK_HUMAN, Q09666
    Similarity: Contains 1 PDZ (DHR) domain


    AHNAK 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AHNK_HUMAN, Q09666
    Function: May be required for neuronal cell differentiation

         Genatlas biochemistry entry for AHNAK:
    unusually large protein (700kDa),expressed in several cell lineages,repressed in neuroblastoma,with homology with
    desmosomal plaque protein (desmoyokin) in bovine

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16417406
    GO:0044548S100 protein binding IPI14699089
    GO:0044822poly(A) RNA binding IDA--
    GO:0097493structural molecule activity conferring elasticity ISS--
         
    AHNAK for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ahnak):
     adipose tissue  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     normal 

    AHNAK for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for AHNAK: Ahnaktm1Tak Ahnaktm1Vtm Ahnaktm1Ysb

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AHNAK
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for AHNAK

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AHNAK
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AHNAK

    miRNA
    Products:
        
    miRTarBase miRNAs that target AHNAK:
    hsa-mir-34a-5p (MIRT025277), hsa-mir-335-5p (MIRT017155), hsa-mir-324-5p (MIRT043080), hsa-mir-421 (MIRT039393), hsa-mir-1303 (MIRT035876)

    Block miRNA regulation of human, mouse, rat AHNAK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AHNAK (see all 58):
    hsa-miR-100* hsa-miR-302d hsa-miR-520e hsa-miR-429 hsa-miR-106a hsa-let-7a-2* hsa-miR-30d hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidAHNAK 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AHNAK
    Predesigned siRNA for gene silencing in human, mouse, rat AHNAK

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AHNAK

    Clone
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    OriGene clones in human, mouse for AHNAK (see all 9)
    OriGene ORF clones in mouse, rat for AHNAK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AHNAK (NM_001620)
    Sino Biological Human cDNA Clone for AHNAK
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AHNAK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHNAK

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for AHNAK
    Browse ESI BIO Cell Lines and PureStem Progenitors for AHNAK 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHNAK


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AHNK_HUMAN, Q09666: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    plasma membrane3
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS1608957
    GO:0005737cytoplasm IDA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005829cytosol ISS--
    GO:0005886plasma membrane IDA--

    AHNAK for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including AHNAK: 
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AHNAK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for AHNAK (Q096661, 2, 3 ENSP000003672634) via UniProtKB, MINT, STRING, and/or I2D (see all 794)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SUMO1P631652, 3, ENSP000003760764MINT-7947479 I2D: score=1 STRING: ENSP00000376076
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    EGFRP005331, 3, ENSP000002754934EBI-2555881,EBI-297353 I2D: score=2 STRING: ENSP00000275493
    YWHAZP631042, 3, ENSP000003095034MINT-3318854 I2D: score=1 STRING: ENSP00000309503
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development ----
    GO:0043484regulation of RNA splicing ISS--
    GO:0051259protein oligomerization ISS--
    GO:1901385regulation of voltage-gated calcium channel activity IMP--

    AHNAK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AHNAK (AHNK)

    1 Novoseek inferred chemical compound relationship for AHNAK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 27.6 9 11312263 (2), 10593863 (2), 19497879 (1), 19261907 (1) (see all 6)



    AHNAK for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AHNAK gene (2 alternative transcripts): 
    NM_001620.2  NM_024060.3  

    Unigene Cluster for AHNAK:

    AHNAK nucleoprotein
    Hs.502756  [show with all ESTs]
    Unigene Representative Sequence: NM_001620
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000530124 ENST00000257247(uc001ntk.1) ENST00000525875 ENST00000533365
    ENST00000378024(uc001ntl.3) ENST00000530285 ENST00000528508 ENST00000531324

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AHNAK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AHNAK (see all 58):
    hsa-miR-100* hsa-miR-302d hsa-miR-520e hsa-miR-429 hsa-miR-106a hsa-let-7a-2* hsa-miR-30d hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmidAHNAK 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AHNAK
    Predesigned siRNA for gene silencing in human, mouse, rat AHNAK
    Clone
    Products:
         
    OriGene clones in human, mouse for AHNAK (see all 9)
    OriGene ORF clones in mouse, rat for AHNAK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): AHNAK (NM_001620)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AHNAK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AHNAK
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for AHNAK
    OriGene qSTAR qPCR primer pairs in human, mouse for AHNAK
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AHNAK
      QuantiTect SYBR Green Assays in human, mouse, rat AHNAK
      QuantiFast Probe-based Assays in human, mouse, rat AHNAK

    Additional mRNA sequence: 

    AK091153.1 AK095346.1 AK128868.1 AK300376.1 BC000926.1 BC012477.1 BC017483.1 BC128460.1 
    M80899.1 M80902.1 X74818.1 

    22 DOTS entries:

    DT.306230  DT.40196571  DT.205363  DT.91943879  DT.92444250  DT.95234275  DT.102843018  DT.120721656 
    DT.120721676  DT.121632014  DT.95083474  DT.95161779  DT.120721666  DT.120721669  DT.120721732  DT.120721753 
    DT.75155677  DT.91641032  DT.92444243  DT.95234278  DT.91980643  DT.95180013 

    Selected AceView cDNA sequences (see all 41):

    AK091153 AA834085 AX746812 NM_024060 BG187385 BF094607 AK095346 BF761997 
    BC012477 BV187685 M80902 AI791300 BC000926 BE087659 AI791268 BE694319 
    AA516529 BF091430 BF940334 BF512391 BE004719 BU557894 BF380833 BQ370550 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AHNAK expression in normal human tissues (normalized intensities)      AHNAK embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTAAGAAAA
    AHNAK Expression
    About this image


    AHNAK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
    AHNAK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AHNAK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.502756
        Pathway & Disease-focused RT2 Profiler PCR Array including AHNAK: 
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat AHNAK
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AHNAK

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for AHNAK gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ahnak1 , 5 AHNAK nucleoprotein (desmoyokin)1, 5 78.53(n)1
    76.42(a)1
      19 (6.04 cM)5
    663951  NM_009643.21  NP_033773.11 
     89892845 
    chicken
    (Gallus gallus)
    Aves AHNAK6
    AHNAK nucleoprotein
    67(a)
    1 ↔ 1
    JH375735.1(21-10051)
    lizard
    (Anolis carolinensis)
    Reptilia AHNAK6
    AHNAK nucleoprotein
    59(a)
    1 ↔ 1
    GL344077.1(85909-105402)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ahnak1 AHNAK nucleoprotein 62.33(n)
    54.63(a)
      733715  XM_002941460.2  XP_002941506.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ahnak1 AHNAK nucleoprotein 60.3(n)
    51.05(a)
      559276  XM_682604.4  XP_687696.4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AHNAK gene
    PRX2  AHNAK22  

    AHNAK 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AHNAK (see all 2974)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2009595991,2
    Cuntested162293490(+) CTTTCA/GGTCCT 3 P L int1 mis10--------
    rs1388237431,2
    C--62200529(+) AGCCTA/GGCCAA 1 -- int10--------
    rs1139751751,2
    C--62200603(+) GCGTGA/GTGGCA 1 -- int10--------
    rs79444361,2
    C,F,A--62200661(+) CTCAGG/CAGGTG 1 -- int16Minor allele frequency- C:0.27NA WA EA 248
    rs113077871,2
    C,F--62200736(+) GTCTCA/-AAAAA 1 -- int13Minor allele frequency- -:0.50NA CSA 6
    rs127949201,2
    C,F,A--62200809(+) AAGGGG/ATGTAA 1 -- int17Minor allele frequency- A:0.09NA WA CSA 248
    rs112310901,2
    H--62200815(+) TGTAAG/AAGGGA 1 -- int14Minor allele frequency- A:0.00NS EA 420
    rs30171061,2
    C,F,O,A,H--62200846(-) CGCGCA/GTTCTC 1 -- int127Minor allele frequency- G:0.31NA NS EA WA CSA 2484
    rs1844020051,2
    --62200860(+) GTTCTC/TGGTCA 1 -- int10--------
    rs114054571,2
    C--62200902(+) AAAAA-/A/AA  
            
    TAGTG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for AHNAK (62201016 - 62323707 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AHNAK (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661679CNV Deletion23128226
    esv2661140CNV Deletion23128226
    esv2671635CNV Deletion23128226
    esv2744605CNV Deletion23290073
    esv2674790CNV Deletion23128226
    esv2673066CNV Deletion23128226
    nsv346CNV Insertion18451855
    nsv832180CNV Loss17160897
    nsv897621CNV Loss21882294
    nsv347CNV Loss18451855

    Human Gene Mutation Database (HGMD): AHNAK
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 103390    OMIM disorders: --

    18 diseases for AHNAK:    About MalaCards
    skeletal muscle regeneration    limb-girdle muscular dystrophy    laryngeal carcinoma    epididymitis
    muscular dystrophy    intrahepatic cholangiocarcinoma    cholangiocarcinoma    laryngitis
    hepatitis c virus    systemic lupus erythematosus    lupus erythematosus    hepatitis c
    neuroblastoma    hypoxia    esophagitis    hepatitis
    breast cancer    neuronitis

    1 disease from the University of Copenhagen DISEASES database for AHNAK:
    limb-girdle muscular dystrophy

    AHNAK for disorders           About GeneDecksing


    Export disorders for AHNAK 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)
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    PubMed articles for AHNAK gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with AHNAK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human gene (AHNAK) encoding an unusually large protein with a 1.2- microns polyionic rod structure. (PubMed id 1608957)1, 2, 9 Shtivelman E.... Bishop J.M. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    2. AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration. (PubMed id 17185750)1, 2 Huang Y.... van der Maarel S.M. (FASEB J. 2007)
    3. The carboxyl-terminal region of ahnak provides a link between cardiac L-type Ca2+ channels and the actin-based cytoskeleton. (PubMed id 12153988)1, 3 Hohaus A....Haase H. (FASEB J. 2002)
    4. A radiation hybrid map of 506 STS markers spanning human chromosome 11. (PubMed id 7987395)1, 3 James M.R....Vignal A. (Nat. Genet. 1994)
    5. Protein kinase B phosphorylates AHNAK and regulates its subcellular localization. (PubMed id 11535620)1, 9 Sussman J....Shtivelman E. (J. Cell Biol. 2001)
    6. Multiple antibodies to titin immunoreact with AHNAK and localize to the mitotic spindle machinery. (PubMed id 11746675)1, 9 Wernyj R.P....Isaacs W.B. (Cell Motil. Cytoskeleton 2001)
    7. AHNAK interacts with the DNA ligase IV-XRCC4 complex and stimulates DNA ligase IV-mediated double-stranded ligation. (PubMed id 15177040)1, 9 Stiff T....Kysela B. (DNA Repair (Amst.) 2004)
    8. The giant protein AHNAK is a specific target for the calcium- and zinc-binding S100B protein: potential implications for Ca2+ homeostasis regulation by S100B. (PubMed id 11312263)1, 9 Gentil B.J....Baudier J. (J. Biol. Chem. 2001)
    9. Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle. (PubMed id 18334579)1, 9 Huang Y....van der Maarel S.M. (Hum. Mol. Genet. 2008)
    10. AHNAK-mediated activation of phospholipase C-gamma1 through protein kinase C. (PubMed id 15033986)1, 9 Lee I.H....Bae Y.S. (J. Biol. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79026 HGNC: 347 AceView: MGC5395 Ensembl:ENSG00000124942 euGenes: HUgn79026
    ECgene: AHNAK H-InvDB: AHNAK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AHNAK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for AHNAK Genetics and Cytogenetics in Oncology and Haematology

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

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



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