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ANK3 Gene

protein-coding   GIFtS: 62
GCID: GC10M061788

Ankyrin 3, Node Of Ranvier (Ankyrin G)

  See ANK3-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
Ankyrin 3, Node Of Ranvier (Ankyrin G)1 2     ANKYRIN-G2
ankyrin-31 2     Ankyrin G1192
MRT372 5     ANK-33
ankyrin-G1     Ankyrin-G3
Node Of Ranvier1     

External Ids:    HGNC: 4941   Entrez Gene: 2882   Ensembl: ENSG000001511507   OMIM: 6004655   UniProtKB: Q129553   

Export aliases for ANK3 gene to outside databases

Previous GC identifers: GC10M060584 GC10M060813 GC10M061680 GC10M061132 GC10M061458 GC10M055775


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


Entrez Gene summary for ANK3 Gene:
Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying
spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation,
contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different
affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. 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. Ankyrin 3 is an immunologically distinct gene
product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of
neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms
have been found for this gene.(provided by RefSeq, Feb 2011)

GeneCards Summary for ANK3 Gene:
ANK3 (ankyrin 3, node of Ranvier (ankyrin G)) is a protein-coding gene. Diseases associated with ANK3 include mental retardation, autosomal recessive, 37, and plexiform neurofibroma. GO annotations related to this gene include protein binding, bridging and structural constituent of cytoskeleton. An important paralog of this gene is TNKS2.

UniProtKB/Swiss-Prot: ANK3_HUMAN, Q12955
Function: In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity).
Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion
molecules at the nodes of Ranvier and axonal initial segments
Function: Isoform AnkG119: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin

Gene Wiki entry for ANK3 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)
About This Section

RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANK3 gene promoter:
         C/EBPbeta   CUTL1   RORalpha2   C/EBPalpha   AREB6   SRY   FOXC1   STAT3   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANK3 promoter sequence
   Search Chromatin IP Primers for ANK3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANK3


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

Entrez Gene cytogenetic band: 10q21   Ensembl cytogenetic band:  10q21.2   HGNC cytogenetic band: 10q21

ANK3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANK3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M061788:  view genomic region     (about GC identifiers)

Start:
61,786,056 bp from pter      End:
62,493,284 bp from pter
Size:
707,229 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, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section


UniProtKB/Swiss-Prot: ANK3_HUMAN, Q12955 (See protein sequence)
Recommended Name: Ankyrin-3  
Size: 4377 amino acids; 480410 Da
Subunit: Directly interacts with DMD and betaDAG1. This interaction does not interfere with binding between DMD
and betaDAG1. It is also required for DMD and betaDAG1 retention at costameres (By similarity). Interacts (via
N-terminal ANK repeats) with SCHIP1 isoform 5 (via C-terminus); this interaction is required for the localization
at axon initial segments (AISs) and nodes of Ranvier (NRs) (By similarity). May be a constituent of a
neurofascin/NRCAM/ankyrin G complex. Interacts with RHBG
Secondary accessions: B1AQT2 B4DIL1 E9PE32 Q13484 Q5CZH9 Q5VXD5 Q7Z3G4 Q9H0P5
Alternative splicing: 5 isoforms:  Q12955-3   Q12955-4   Q12955-5   Q12955-6   Q12955-7   (Avidly binds beta spectrin)

Explore the universe of human proteins at neXtProt for ANK3: NX_Q12955

Explore proteomics data for ANK3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys4338
  • Modification sites at PhosphoSitePlus

  • See ANK3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001140.2  NP_001191332.1  NP_001191333.1  NP_066267.2  

    ENSEMBL proteins: 
     ENSP00000280772   ENSP00000362933   ENSP00000362926   ENSP00000423057   ENSP00000347436  
     ENSP00000425236   ENSP00000427121   ENSP00000426258   ENSP00000423968   ENSP00000362921  
     ENSP00000426582   ENSP00000422506   ENSP00000426690   ENSP00000422657   ENSP00000426011  
    Reactome Protein details: Q12955

    ANK3 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ANK3

     
    Search eBioscience for Proteins for ANK3 

     
    Search GeneTex for Proteins for ANK3 

     
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    Search antibodies-online for peptides for ANK3

    ANK3 Antibody Products:

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    antibodies-online antibodies for ANK3 (50 products) 

    ANK3 Assay Products:

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    Cloud-Clone Corp. ELISAs for ANK3
    Cloud-Clone Corp. CLIAs for ANK3
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    antibodies-online kits for ANK3 (2 products) 


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

    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

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

    Graphical View of Domain Structure for InterPro Entry Q12955

    ProtoNet protein and cluster: Q12955

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


    UniProtKB/Swiss-Prot: ANK3_HUMAN, Q12955
    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 (By similarity)
    Similarity: Contains 23 ANK repeats
    Similarity: Contains 1 death domain
    Similarity: Contains 2 ZU5 domains


    Find genes that share domains with ANK3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway, and/or Taconic Biosciences, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANK3_HUMAN, Q12955
    Function: In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity).
    Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion
    molecules at the nodes of Ranvier and axonal initial segments
    Function: Isoform AnkG119: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin

         Genatlas biochemistry entry for ANK3:
    ankyrin 3,non erythrocytic,intermediate filament associated protein (IFAP,type III),expressed in the axonal
    initial segment and Ranvier nodes in the central and peripheral nervous system

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton IMP17620337
    GO:0005515protein binding IPI15611082
    GO:0008092cytoskeletal protein binding ISS--
    GO:0030507spectrin binding ISS--
    GO:0030674protein binding, bridging ISS--
         
    Find genes that share ontologies with ANK3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ANK3:
     Synthetic lethal with imatinib 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ank3):
     behavior/neurological  mortality/aging  nervous system  no phenotypic analysis  renal/urinary system 
     respiratory system 

    Find genes that share phenotypes with ANK3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ank3tm1Bnt for ANK3

       genOway: Develop your customized and physiologically relevant rodent model for ANK3

        Search Taconic Biosciences for animal models for ANK3 

    miRNA
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    hsa-miR-124* hsa-miR-193a-3p hsa-miR-938 hsa-miR-138-2* hsa-miR-877* hsa-miR-409-5p hsa-miR-200b hsa-miR-525-3p
    SwitchGear 3'UTR luciferase reporter plasmidANK3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ANK3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 4): ANK3 (NM_001149)
    Browse Sino Biological Human cDNA Clones
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
    About This Section


    Subcellular locations from UniProtKB/Swiss-Prot
    ANK3_HUMAN, Q12955: Cytoplasm, cytoskeleton. Cell junction, synapse, postsynaptic cell membrane (By similarity).
    Lysosome (By similarity). Note=In skeletal muscle, localized at costameres and neuromuscular junctions (By
    similarity). In macrophages, associated with lysosomes (By similarity)
    ANK3_HUMAN, Q12955: Isoform AnkG119: Cytoplasm, cytoskeleton. Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    nucleus3
    cytosol2
    lysosome2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IEA--
    GO:0005783endoplasmic reticulum TAS8666667
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane ISS--
    GO:0005923colocalizes with tight junction IDA14757759

    Find genes that share ontologies with ANK3           About GenesLikeMe


    (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 GenesLikeMe, 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, Sets of similar genes according to GenesLikeMe)
    About This Section






    SuperPaths for ANK3 About    
    See pathways by source

          Powered
    by
         
    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    2Proteoglycans in cancer
    Proteoglycans in cancer
    3Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins


    Find genes that share SuperPaths with ANK3           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways


    1 Reactome Pathway for ANK3
        Interaction between L1 and Ankyrins


    1 Kegg Pathway  (Kegg details for ANK3):
        Proteoglycans in cancer

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANK3
    Interactions:

        GeneGlobe Interaction Network for ANK3

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

    Selected Interacting proteins for ANK3 (Q129553 ENSP000002807724) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R1P279863, ENSP000002743354I2D: score=2 STRING: ENSP00000274335
    SMAD2Q157963, ENSP000002621604I2D: score=2 STRING: ENSP00000262160
    SPTBN4Q9H2543, ENSP000002633734I2D: score=2 STRING: ENSP00000263373
    CNTN1Q128603, ENSP000003256604I2D: score=1 STRING: ENSP00000325660
    CRKLP461093, ENSP000003463004I2D: score=1 STRING: ENSP00000346300
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000281mitotic cytokinesis IMP14757759
    GO:0007009plasma membrane organization IMP17620337
    GO:0007016cytoskeletal anchoring at plasma membrane TAS7836469
    GO:0007165signal transduction IEA--
    GO:0007409axonogenesis ISS--

    Find genes that share ontologies with ANK3           About GenesLikeMe



    (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, Sets of similar genes according to GenesLikeMe)
    About This Section

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

    Browse Tocris compounds for ANK3

    3 Novoseek inferred chemical compound relationships for ANK3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 55 24 11950515 (5), 19064667 (3), 15797713 (3), 17548513 (2) (see all 13)
    inositol 1,4,5 trisphosphate 24.4 1 17074766 (1)
    serine 0 1 19075107 (1)



    Find genes that share compounds with ANK3           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section


    REFSEQ mRNAs for ANK3 gene (28 alternative transcripts): 
    NM_001149.3  NM_001204403.1  NM_001204404.1  NM_020987.3  XM_005269715.1  XM_005269716.1  XM_006717782.1  XM_006717783.1  
    XM_006717784.1  XM_006717785.1  XM_006717786.1  XM_006717787.1  XM_006717788.1  XM_006717789.1  XM_006717790.1  XM_006717791.1  
    XM_006717792.1  XM_006717793.1  XM_006717794.1  XM_006717795.1  XM_006717796.1  XM_006717797.1  XM_006717798.1  XM_006717799.1  
    XM_006717800.1  XM_006717801.1  XM_006717802.1  XM_006717803.1  

    Unigene Cluster for ANK3:

    Ankyrin 3, node of Ranvier (ankyrin G)
    Hs.499725  [show with all ESTs]
    Unigene Representative Sequence: NM_020987
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000280772(uc001jky.3) ENST00000373827(uc001jkv.3 uc001jkw.3 uc009xpa.3 uc001jkx.3 uc010qih.2 uc001jkz.4)
    ENST00000373820 ENST00000502769 ENST00000355288 ENST00000489505 ENST00000480699
    ENST00000503366 ENST00000469721 ENST00000514197 ENST00000511043(uc009xpb.1)
    ENST00000459732 ENST00000508449 ENST00000465749 ENST00000467420 ENST00000373815
    ENST00000513049 ENST00000506635
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    hsa-miR-124* hsa-miR-193a-3p hsa-miR-938 hsa-miR-138-2* hsa-miR-877* hsa-miR-409-5p hsa-miR-200b hsa-miR-525-3p
    SwitchGear 3'UTR luciferase reporter plasmidANK3 3' UTR sequence
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    Additional mRNA sequence: 

    AK092361.1 AK092527.1 AK124230.1 AK126851.1 AK128784.1 AK292927.1 AK295661.1 AL136710.1 
    BX537917.1 BX648574.1 U13616.1 

    Selected DOTS entries (see all 34):

    DT.118237  DT.92474267  DT.91946173  DT.456169  DT.95201870  DT.95308106  DT.121283958  DT.95190384 
    DT.100740021  DT.91864328  DT.40302436  DT.121284083  DT.70100610  DT.86850267  DT.97823089  DT.100788278 
    DT.97782497  DT.97862772  DT.449043  DT.92474382  DT.95157943  DT.121283897  DT.121284018  DT.121284097 

    Selected AceView cDNA sequences (see all 285):

    BF432032 W57789 AI050977 AA677185 BX092880 BF436099 CF529946 AI131275 
    BF590120 AA460992 H87682 AI743588 CA393798 AI740514 BX486657 BX117577 
    AA788785 BM718793 BI768209 Z40179 BX108319 AA995085 BM727171 W39432 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ANK3 (see all 13)    About this scheme

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

    ExUns: 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b · 38c ^ 39 ^ 40a · 40b · 40c ^
    SP1:              -                                                           -                                                                                 
    SP2:              -                                                           -           -                             -                                       
    SP3:              -                                                                                                                                             
    SP4:                                                                                      -                             -                                       
    SP5:                                                                                                                                                            

    ExUns: 41 ^ 42a · 42b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for ANK3

    (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 GenesLikeMe, 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)
    About This Section

    ANK3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTATCACCT
    ANK3 Expression
    About this image


    ANK3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 5 entries
             hIPS1
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Pro-myelinating Schwann Cells Peripheral Nerve Domain
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             T Helper Cells Peripheral Blood
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
    ANK3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANK3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.499725

    UniProtKB/Swiss-Prot: ANK3_HUMAN, Q12955
    Tissue specificity: Expressed in brain, neurons and other tissues

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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 ANK3 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ank31 , 5 ankyrin 3, epithelial1, 5 86.27(n)1
    94.97(a)1
      10 (36.10 cM)5
    117351  NM_146005.31  NP_666117.21 
     695337725 
    chicken
    (Gallus gallus)
    Aves ANK31 ankyrin 3, node of Ranvier (ankyrin G) 80.36(n)
    83.08(a)
      396309  NM_001277097.1  NP_001264026.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANK36
    ankyrin 3, node of Ranvier (ankyrin G)
    80(a)
    1 ↔ 1
    GL343251.1(31267-252657)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.122232 Xenopus laevis transcribed sequence with moderate similarity more 78.19(n)    BJ066016.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ank3b1 ankyrin 3b 65.93(n)
    67.74(a)
      100126016  XM_005156038.1  XP_005156095.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mask3
    Ank1
    cytoskeletal anchoring structural
    constituent more3
    Ankyrin1
    34(a)3
    57.26(n)1
    55.18(a)1
      437701  NM_001169348.21  NP_001162819.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-446
    Protein UNC-44, isoform f (unc-44) mRNA, complete ...
    20(a)
    1 → many
    IV(5966656-6004859) WBGene00006780


    ENSEMBL Gene Tree for ANK3 (if available)
    TreeFam Gene Tree for ANK3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
    About This Section

    Paralogs for ANK3 gene
    TNKS22  ANK12  ANKRD522  TNKS2  ANKRD652  ANKFY12  ANKRD502  INVS2  
    ANK22  ANKRD282  
    Selected SIMAP similar genes for ANK3 using alignment to 13 protein entries:     ANK3_HUMAN (see all proteins) (see all similar genes):
    hANK1    ANK1    ANK2    IkBa    DKFZp686M09125    PPP1R12A
    CDKN2D    KANK4    ANKDD1A    ANKRD44    GABPB1    GPR75-ASB3
    NRARP    RAI14    ASB2    FPGT-TNNI3K    ANKRD54    DKFZp761E1322

    Find genes that share paralogs with ANK3           About GenesLikeMe



    (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)
    About This Section


    Selected SNPs for ANK3 (see all 15300)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005567671,2
    Cuntested162215459(+) GTTTTC/G/TCTTCC 8 E G mis10--------
    rs679195341,2
    C--55778054(+) GCTTTGTAA/-  
            
    GTAAG
    4 -- int11Minor allele frequency- -:0.50CSA 2
    rs105961001,2
    C--55778056(+) TAAGT-/AAGT  
            
    CTCTC
    4 -- int11Minor allele frequency- AAGT:0.00NA 2
    rs1467470641,2
    C--55784520(+) CACTC-/TTTTTT 4 -- int10--------
    rs57854281,2
    C--55798679(+) GTGCA-/TG    
       
    /TGTG
    tgtgt
    4 -- int10--------
    rs340101581,2
    C--55806148(+) CCACT-/AAAAAG 4 -- int10--------
    rs563810451,2
    C--55811561(+) ACACA-/ACA   
      ACAACA
    GCAAC
    4 -- cds10--------
    rs2018242801,2
    --55811562(+) ACACA-/GCAACA 4 -- int10--------
    rs675647451,2
    C--55823556(+) AAAAA-/TAAAAC 4 -- int10--------
    rs354175271,2
    C--55831310(+) GTCTC-/AAAAAA 4 -- int11Minor allele frequency- A:0.50NA 2

    HapMap Linkage Disequilibrium report for ANK3 (61786056 - 62036056 bp, first 250kb of ANK3)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANK3 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662232CNV Deletion23128226
    esv1003254CNV Deletion20482838
    esv2660339CNV Deletion23128226
    esv1484659CNV Insertion17803354
    esv1506468CNV Insertion17803354
    esv1037467CNV Insertion17803354
    esv268954CNV Insertion20981092
    esv268335CNV Insertion20981092
    esv273876CNV Insertion20981092
    esv275322CNV Loss21479260

    Human Gene Mutation Database (HGMD): ANK3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANK3
    DNA2.0 Custom Variant and Variant Library Synthesis for ANK3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
    About This Section

    OMIM gene information: 600465   
    OMIM disorders: 615493  
    UniProtKB/Swiss-Prot: ANK3_HUMAN, Q12955
  • Note=Genetic variations in ANK3 are associated with autism spectrum disorders susceptibility

  • 2 diseases for ANK3:    
    About MalaCards
    mental retardation, autosomal recessive, 37    plexiform neurofibroma

    2 inferred disease relationships from the University of Copenhagen DISEASES database for ANK3:
    Brugada syndrome     Schizophrenia

    Find genes that share disorders with ANK3           About GenesLikeMe

    2 Novoseek inferred disease relationships for ANK3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    brugada syndrome 59.8 2 16650839 (1), 15579534 (1)
    neuroma 58.2 20 12507143 (8), 11950515 (3), 15519868 (2)

    Genetic Association Database (GAD): ANK3
    Human Genome Epidemiology (HuGE) Navigator: ANK3 (19 documents)

    Export disorders for ANK3 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 ANK3 gene, integrated from 10 sources (see all 108):
    (articles sorted by number of sources associating them with ANK3)

    1. Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. (PubMed id 19088739)1, 4, 9 Schulze T.G....McMahon F.J. (Mol. Psychiatry 2009)
    2. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. (PubMed id 18711365)1, 4, 9 Ferreira M.A....Craddock N. (Nat. Genet. 2008)
    3. Genome-wide association study meta-analysis of European and Asian-ancestry samples identifies three novel loci associated with bipolar disorder. (PubMed id 22182935)1, 4 Chen D.T....Schulze T.G. (Mol. Psychiatry 2013)
    4. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. (PubMed id 22865819)1, 2 Bi C.... Sun Z.S. (Hum. Mutat. 2012)
    5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1, 4 (Nat. Genet. 2011)
    6. Genome-wide association study identifies five new schizophrenia loci. (PubMed id 21926974)1, 4 (Nat. Genet. 2011)
    7. Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. (PubMed id 20351715)1, 4 Liu Y....Sullivan P.F. (Mol. Psychiatry 2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. (PubMed id 20185149)1, 4 Athanasiu L....Andreassen O.A. (J Psychiatr Res 2010)
    10. Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease. (PubMed id 17373700)1, 4 Morgan A.R....Williams J. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007)

    (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: 288 HGNC: 494 AceView: ANK3 Ensembl:ENSG00000151150 euGenes: HUgn288
    ECgene: ANK3 Kegg: 288 H-InvDB: ANK3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ANK3 Pharmacogenomics, SNPs, Pathways
    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 ANK3 gene:
    Search GeneIP for patents involving ANK3

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



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    About This Section


     
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