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

ANK2 Gene

protein-coding   GIFtS: 67
GCID: GC04P113739

Ankyrin 2, Neuronal

(Previous name: long (electrocardiographic) QT syndrome 4)
(Previous symbol: LQT4)
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(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
Ankyrin 2, Neuronal1 2     Ankyrin, Brain2
LQT41 2 5     ankyrin-22
Non-Erythroid Ankyrin2 3     Ankyrin-2, Nonerythrocytic2
ANK-22 3     brank-22
Long (Electrocardiographic) QT Syndrome 41     Ankyrin-B3
Ankyrin B2     Brain Ankyrin3

External Ids:    HGNC: 4931   Entrez Gene: 2872   Ensembl: ENSG000001453627   OMIM: 1064105   UniProtKB: Q014843   

Export aliases for ANK2 gene to outside databases

Previous GC identifers: GC04P114383 GC04P114251 GC04P114132 GC04P114429 GC04P114328 GC04P113970 GC04P109467


(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 ANK2 Gene:
This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the
underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation,
proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed
of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with
a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved
and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca
exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome.
Multiple transcript variants encoding different isoforms have been described. (provided by RefSeq, Dec 2011)

GeneCards Summary for ANK2 Gene: 
ANK2 (ankyrin 2, neuronal) is a protein-coding gene. Diseases associated with ANK2 include long qt syndrome 4, and cardiac arrhythmia, ankyrin-b-related, and among its related super-pathways are Axon guidance. GO annotations related to this gene include protein kinase binding and protein binding, bridging. An important paralog of this gene is TNKS2.

UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484
Function: In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or
stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By
similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins.
Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum
sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and
beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of
SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate




(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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANK2 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-1   E2F   p53   E2F-2   Pax-4a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANK2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANK2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANK2


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

Entrez Gene cytogenetic band: 4q25-q27   Ensembl cytogenetic band:  4q25   HGNC cytogenetic band: 4q25-q26

ANK2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANK2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P113739:  view genomic region     (about GC identifiers)

Start:
113,739,239 bp from pter      End:
114,304,896 bp from pter
Size:
565,658 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: ANK2_HUMAN, Q01484 (See protein sequence)
Recommended Name: Ankyrin-2  
Size: 3957 amino acids; 433715 Da
Subunit: Directly interacts with DMD; this interaction is necessary for DMD localization at the sarcolemma.
Interacts with DCTN4; this interaction is required for DCTN4 retention at costameres (By similarity). Interacts
with RHBG and SPTBN1
Subcellular location: Cytoplasm, cytoskeleton. Membrane. Cytoplasm, myofibril, sarcomere, M line (By similarity).
Apical cell membrane (By similarity). Cell membrane. Cell junction, synapse, postsynaptic cell membrane (By
similarity). Note=Expressed at the apical membrane of airway lung epithelial cells (By similarity). Localized to
the plasma membrane of the inner segments of photoreceptors in retina. Colocalizes with SPTBN1 in a distict
intracellular compartment of neonatal cardiomyocytes (By similarity). In skeletal muscle, localizes to
neuromuscular junctions (By similarity)
Sequence caution: Sequence=AAI25237.1; Type=Frameshift; Positions=1405; Sequence=CAB42644.1; Type=Miscellaneous
discrepancy; Note=CDS lacks C-terminal region which is nevertheless present in the underlying cDNA;
1 PDB 3D structure from and Proteopedia for ANK2:
4D8O (3D)    
Secondary accessions: Q01485 Q08AC7 Q08AC8 Q7Z3L5
Alternative splicing: 4 isoforms:  Q01484-4   Q01484-2   Q01484-5   Q01484-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANK2: NX_Q01484

Explore proteomics data for ANK2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated at multiple sites by different protein kinases and each phosphorylation event regulates the
    protein's structure and function (Potential)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01484

  • ANK2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ANK2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001120965.1  NP_001139.3  NP_066187.2  

    ENSEMBL proteins: 
     ENSP00000423799   ENSP00000421011   ENSP00000421067   ENSP00000424722   ENSP00000378044  
     ENSP00000349588   ENSP00000264366   ENSP00000422900   ENSP00000425775   ENSP00000421059  
     ENSP00000426944   ENSP00000422853   ENSP00000426994   ENSP00000421023   ENSP00000422498  
     ENSP00000422888   ENSP00000422486  
    Reactome Protein details: Q01484
    Human Recombinant Protein Products for ANK2: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ANK2 

    Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IGI17178715
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane ISS--

    ANK2 for ontologies           About GeneDecksing



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    Assay Products for ANK2: 
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    Cloud-Clone Corp. ELISAs for ANK2 
    Cloud-Clone Corp. CLIAs for ANK2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    5 InterPro protein domains:
     IPR011029 DEATH-like_dom
     IPR000488 Death_domain
     IPR000906 ZU5
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q01484

    ProtoNet protein and cluster: Q01484

    3 Blocks protein domains:
    IPB000488 Death domain
    IPB000906 ZU5 domain
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484
    Domain: The tandem configuration of the two ZU5 and the UPA domains forms a structural supramodule termed ZZU.
    ZU5-1 mediates interaction with beta-spectrin, and the ZU5-1/UPA interface is required for ankyrin's function
    other than binding to spectrin
    Similarity: Contains 24 ANK repeats
    Similarity: Contains 2 death domains
    Similarity: Contains 2 ZU5 domains


    ANK2 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: ANK2_HUMAN, Q01484
    Function: In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or
    stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By
    similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins.
    Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum
    sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and
    beta-2-spectrin (SPTBN1) in the inner segment of rod photoreceptors. Required for expression and targeting of
    SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate

         Genatlas biochemistry entry for ANK2:
    ankyrin 2,non erythrocytic,intermediate filament associated protein (IFAP,type III)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15262991
    GO:0015459potassium channel regulator activity IEA--
    GO:0019899enzyme binding IPI--
    GO:0019901protein kinase binding IPI18782775
    GO:0030507spectrin binding IPI15262991
         
    ANK2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ANK2:
     Decreased viability with pacli 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ank2):
     behavior/neurological  cardiovascular system  growth/size  homeostasis/metabolism  mortality/aging 
     nervous system  vision/eye 

    ANK2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ank2tm1Bnt for ANK2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ANK2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ANK2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANK2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANK2 

    miRNA
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    miRTarBase miRNAs that target ANK2:
    hsa-mir-122 (MIRT003081)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANK2
    8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate ANK2 (see all 58):
    hsa-miR-3152-3p hsa-miR-376b hsa-miR-139-5p hsa-miR-16-1* hsa-let-7a-2* hsa-miR-342-3p hsa-miR-507 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidANK2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): ANK2 (NM_001148)
    Browse Sino Biological Human cDNA Clones
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    Search LifeMap BioReagents cell lines for ANK2
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANK2


    (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 ANK2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Axon guidance
    Axon guidance0.69
    L1CAM interactions0.39
    Developmental Biology0.69
    2Proteoglycans in cancer
    Proteoglycans in cancer
    3Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins
    4Antiarrhythmic Pathway, Pharmacodynamics
    Antiarrhythmic Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for ANK2
        L1CAM interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    Axon guidance

    1 PharmGKB Pathway for ANK2
        Antiarrhythmic Pathway, Pharmacodynamics

    1         Kegg Pathway  (Kegg details for ANK2):
        Proteoglycans in cancer


    ANK2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANK2

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

    5/40 Interacting proteins for ANK2 (Q014841, 2, 3 ENSP000003495884) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OBSCNQ5VST92, 3, ENSP000004094934MINT-50081 I2D: score=1 STRING: ENSP00000409493
    GRB2P629931, 3, ENSP000003390074EBI-941975,EBI-401755 I2D: score=1 STRING: ENSP00000339007
    AK6Q165943I2D: score=1 
    EPB42P164523, ENSP000003002154I2D: score=1 STRING: ENSP00000300215
    NDEL1Q9GZM83, ENSP000003339824I2D: score=1 STRING: ENSP00000333982
    About this table

    Gene Ontology (GO): 5/42 biological process terms (GO ID links to tree view) (see all 42):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002027regulation of heart rate IMP18832177
    GO:0003283atrial septum development IMP18832177
    GO:0006874cellular calcium ion homeostasis ISS--
    GO:0007165signal transduction ----
    GO:0007411axon guidance TAS--

    ANK2 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

    ANK2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ANK2

    3 Novoseek inferred chemical compound relationships for ANK2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inositol 1,4,5 trisphosphate 66.4 13 15262991 (2), 16292983 (2), 14722080 (1), 17074766 (1) (see all 9)
    ryanodine 54.8 3 15262991 (1), 16292983 (1)
    calcium 17.2 4 19098452 (3), 17413664 (1)

    Search CenterWatch for drugs/clinical trials and news about ANK2

    (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 ANK2 gene (3 alternative transcripts): 
    NM_001127493.1  NM_001148.4  NM_020977.3  

    Unigene Cluster for ANK2:

    Ankyrin 2, neuronal
    Hs.620557  [show with all ESTs]
    Unigene Representative Sequence: NM_001148
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000503271 ENST00000503423 ENST00000506722(uc003ibc.2 uc003ibd.4)
    ENST00000504454 ENST00000514246 ENST00000394537 ENST00000357077(uc011cgb.1 uc003ibe.4 uc003ibf.4 uc011cgc.2)
    ENST00000264366 ENST00000508613 ENST00000512999 ENST00000511380 ENST00000515034
    ENST00000509550 ENST00000502701 ENST00000515644 ENST00000514960(uc003ibg.4 uc003ibh.4)
    ENST00000514160 ENST00000504887

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    8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate ANK2 (see all 58):
    hsa-miR-3152-3p hsa-miR-376b hsa-miR-139-5p hsa-miR-16-1* hsa-let-7a-2* hsa-miR-342-3p hsa-miR-507 hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidANK2 3' UTR sequence
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    Additional mRNA sequence: 

    AF131823.1 AK021894.1 AK095596.1 AK128049.1 AK294720.1 AK299767.1 AK299815.1 AK299893.1 
    AK307601.1 BC017986.1 BC047498.1 BC125235.1 BC125236.1 BX537758.1 BX538132.1 BX538239.1 
    DQ925692.1 DQ925693.1 X56957.1 X56958.2 Z26634.2 

    24 DOTS entries:

    DT.447644  DT.100777845  DT.91747668  DT.91739745  DT.100777840  DT.99971372  DT.100777841  DT.121257819 
    DT.40213674  DT.95213758  DT.97762373  DT.40123217  DT.91787899  DT.100642065  DT.121257779  DT.121257784 
    DT.121257902  DT.97768810  DT.100777842  DT.121257785  DT.121257885  DT.75119078  DT.75176435  DT.75193347 

    24/227 AceView cDNA sequences (see all 227):

    R42392 N78488 AW316545 AK095596 AW129277 AI129314 AA054200 AA311664 
    BQ006948 Z44178 AL043865 AA975079 BM690023 AI287987 X56957 AU132049 
    AI252220 AL537825 AA350438 BE349232 BX537758 CD679539 T16619 NM_020977 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ANK2 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:              -     -                                                                                                                                       
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42a · 42b · 42c
    SP1:              -                                                                                                                           
    SP2:                                                                                            -                       -                     
    SP3:                                                                                                                                          
    SP4:                                                                                                                    -                     
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for ANK2

    (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

    ANK2 expression in normal human tissues (normalized intensities)      ANK2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTAGTTAA
    ANK2 Expression
    About this image


    ANK2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 29 entries
             Thalamus
             Globus Pallidus   
     
     Spinal Cord (Nervous System)
             Dorsal Root Ganglion   
     
     Eye (Sensory Organs)
             Retina

    See ANK2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANK2

    SOURCE GeneReport for Unigene cluster: Hs.620557

    UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484
    Tissue specificity: Present in plasma membrane of neurons as well as glial cells throughout the brain. Expressed
    in fetal brain and in temporal cortex of adult brain. Also expressed in the inner segments of rod photoreceptors
    in retina

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

    This gene was present in the common ancestor of animals.

    Orthologs for ANK2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ank25 ankyrin 2, brain   --   3 (56.07 cM) 126921606 
    chicken
    (Gallus gallus)
    Aves ANK21 ankyrin 2, neuronal 62.87(n)
    61.87(a)
      422689  XM_420641.3  XP_420641.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    96(a)
    65(a)
    1 ↔ many
    1 ↔ many
    5(142662462-142698297)
    5(142563237-142660215)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.85172 Xenopus laevis transcribed sequence with strong similarity more 87.41(n)    AW158520.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI845253.12   -- 77.08(n)    BI845253.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ank23 cytoskeletal anchoring cytoskeletal
    protein binding
    60(a)
    (best of 4)
      66A10   --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-443   -- 55(a)
    (best of 3)
      IV(5975764-5987452)   --


    ENSEMBL Gene Tree for ANK2 (if available)
    TreeFam Gene Tree for ANK2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANK2 gene
    TNKS22  ANK32  TRPA12  ANK12  ANKRD522  TNKS2  ANKRD652  ANKRD502  
    ANKFY12  INVS2  ANKRD282  
    18/44 SIMAP similar genes for ANK2 using alignment to 17 protein entries:     ANK2_HUMAN (see all proteins) (see all similar genes):
    DKFZp686P0948    DKFZp686M09125    ANK3    ANKDD1B    ANKRD54    ANK1
    IkBa    MIB2    ANKHD1    ASB2    TNKS    RAI14
    ANKRD39    ANKRD42    CDKN2C    GABPB1    ANKRD12    KIDINS220

    ANK2 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

    10/11157 SNPs in ANK2 are shown (see all 11157)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0356084
    A colorectal cancer sample4--see VAR_0356082 T K mis40--------
    VAR_0356074
    A colorectal cancer sample4--see VAR_0356072 G R mis40--------
    VAR_0356064
    A breast cancer sample4--see VAR_0356062 G E mis40--------
    VAR_0229364
    Long QT syndrome 4 (LQT4)4--see VAR_0229362 T N mis40--------
    rs725441411,2,4
    CLong QT syndrome 4 (LQT4)4 pathogenic1114064028(+) AAAGGA/GATCAG 6 E G mis12Minor allele frequency- G:0.00EU 1643
    rs355305441,2,4
    C,FLong QT syndrome 4 (LQT4)4 pathogenic1114083503(+) CAGCAC/ATCTTT 6 /I /L mis15Minor allele frequency- A:0.01NA CSA 4634
    rs1219127061,2,4
    C,FLong QT syndrome 4 (LQT4)4 pathogenic1114089058(+) TTAGGC/TGGTAT 6 R W mis12Minor allele frequency- T:0.00NA EU 5871
    rs454544961,2,4
    C,FLong QT syndrome 4 (LQT4)4 pathogenic1114089133(+) ACATCG/AAGGAA 6 /K /E mis16Minor allele frequency- A:0.00NA EU 6805
    rs455020931,2
    C,Fnon-pathogenic1113915370(+) ATTTTC/TCCTGA 3 -- int13Minor allele frequency- T:0.02NA EA 620
    rs353363731,2
    C,Fnon-pathogenic1114051727(+) GGTGTA/GCTGAG 6 V syn15Minor allele frequency- G:0.04NA WA 5116

    HapMap Linkage Disequilibrium report for ANK2 (113739239 - 113989239 bp, first 250kb of ANK2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/37 variations for ANK2 (see all 37):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2728160CNV Deletion23290073
    esv2161780CNV Deletion18987734
    esv2676769CNV Deletion23128226
    esv2728157CNV Deletion23290073
    esv2728161CNV Deletion23290073
    esv989156CNV Deletion20482838
    esv2728156CNV Deletion23290073
    esv2665481CNV Deletion23128226
    esv2728158CNV Deletion23290073
    esv2428650CNV Deletion19546169


    Human Gene Mutation Database (HGMD): ANK2

    Locus Specific Mutation Databases (LSDB): ANK2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 106410   
    OMIM disorders: 600919  
    UniProtKB/Swiss-Prot: ANK2_HUMAN, Q01484
  • Long QT syndrome 4 (LQT4) [MIM:600919]: A heart disorder characterized by a prolonged QT interval on the
    ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or
    emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. Long QT syndrome type
    4 shows many atypical features compared to classical long QT syndromes, including pronounced sinus bradycardia,
    polyphasic T waves and atrial fibrillation. Cardiac repolarization defects may be not as severe as in classical
    LQT syndromes and prolonged QT interval on EKG is not a consistent feature. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20 diseases for ANK2:    About MalaCards
    long qt syndrome 4    cardiac arrhythmia, ankyrin-b-related    long qt syndrome    catecholaminergic polymorphic ventricular tachycardia
    legionnaires' disease    brugada syndrome    syncope    sinusitis
    beta thalassemia    thalassemia    neuronitis    alcohol dependence
    cataract    alcoholism    myocardial infarction    schizophrenia
    neuroblastoma    alzheimer's disease    prostate cancer    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for ANK2:
    Long QT syndrome     Brugada syndrome

    ANK2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for ANK2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ventricular tachycardia, catecholaminergic polymorphic 69 1 15178757 (1)
    long qt syndrome 66.9 6 15178757 (2), 16253912 (2), 18052691 (1)
    death sudden cardiac 64.7 6 19394342 (1), 15124116 (1), 16650839 (1), 16800854 (1)
    death sudden 55.1 1 15178757 (1)
    arrhythmia 53.7 17 17242276 (3), 15178757 (3), 16292983 (1), 16800854 (1) (see all 8)
    sinus bradycardia 53.5 1 15178757 (1)
    tachycardia ventricular 28.7 2 16650839 (1)

    Genetic Association Database (GAD): ANK2
    Human Genome Epidemiology (HuGE) Navigator: ANK2 (9 documents)

    Export disorders for ANK2 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 ANK2 gene, integrated from 9 sources (see all 109):
    (articles sorted by number of sources associating them with ANK2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. (PubMed id 12571597)1, 2, 3 Mohler P.J.... Bennett V. (2003)
    2. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. (PubMed id 15178757)1, 2, 9 Mohler P.J.... Bennett V. (2004)
    3. Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes. (PubMed id 15262991)1, 2, 9 Mohler P.J.... Bennett V. (2004)
    4. Common genetic variants in ANK2 modulate QT interval: results from the KORA study. (PubMed id 20031550)1, 4, 9 Sedlacek K....Jeron A. (2008)
    5. Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes. (PubMed id 1830053)1, 2, 9 Otto E.... Bennett V. (1991)
    6. Isolation and chromosomal localization of a novel nonerythroid ankyrin gene. (PubMed id 1833308)1, 2, 9 Tse W.T.... Forget B.G. (1991)
    7. A genome-wide search for loci interacting with known p rostate cancer risk-associated genetic variants. (PubMed id 22219177)1, 4 Tao S....Sun J. (2012)
    8. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. Inherited genetic variant predisposes to aggressive b ut not indolent prostate cancer. (PubMed id 20080650)1, 4 Xu J....Isaacs W.B. (2010)

    (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: 287 HGNC: 493 AceView: ANK2 Ensembl:ENSG00000145362 euGenes: HUgn287
    ECgene: ANK2 Kegg: 287 H-InvDB: ANK2

    (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 ANK2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ANK2 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ANK2
    Wikipedia http://en.wikipedia.org/wiki/Ankyrin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ANK2 gene:
    Search GeneIP for patents involving ANK2

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



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