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ANKS1B Gene

protein-coding   GIFtS: 56
GCID: GC12M099129

Ankyrin Repeat And Sterile Alpha Motif Domain Containing...

  See ANKS1B-related disease
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
Ankyrin Repeat And Sterile Alpha Motif Domain Containing 1B1 2     ANKS22
E2A-PBX1-Associated Protein2 3     Amyloid-Beta Precursor Protein Intracellular Domain Associated Protein 12
AIDA-12 3     Ankyrin Repeat And Sterile Alpha Motif Domain-Containing Protein 1B2
EB-12 3     Cajalin 22
EB12 5     cajalin-22
AIDA2     Amyloid-Beta Protein Intracellular Domain-Associated Protein 13

External Ids:    HGNC: 246001   Entrez Gene: 568992   Ensembl: ENSG000001850467   OMIM: 6078155   UniProtKB: Q7Z6G83   

Export aliases for ANKS1B gene to outside databases

Previous GC identifers: GC12M097653 GC12M096190


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ANKS1B Gene:
This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein
interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in
the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with
pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript
variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been
described for this gene. (provided by RefSeq, Aug 2011)

GeneCards Summary for ANKS1B Gene:
ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B) is a protein-coding gene. Diseases associated with ANKS1B include acute lymphocytic leukemia. GO annotations related to this gene include ephrin receptor binding. An important paralog of this gene is CASKIN1.

UniProtKB/Swiss-Prot: ANS1B_HUMAN, Q7Z6G8
Function: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and
transformed cells
Function: Isoform 3 can regulate global protein synthesis by altering nucleolar numbers (By similarity)
Function: Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP
processing

Gene Wiki entry for ANKS1B 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 at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANKS1B gene promoter:
         Nkx3-1   Nkx3-1 v4   POU6F1 (c2)   Nkx3-1 v1   Meis-1b   Nkx3-1 v2   Nkx3-1 v3   Meis-1a   Ik-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANKS1B promoter sequence
   Search Chromatin IP Primers for ANKS1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANKS1B


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

Entrez Gene cytogenetic band: 12q23.1   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q23.1

ANKS1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKS1B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M099129:  view genomic region     (about GC identifiers)

Start:
99,120,235 bp from pter      End:
100,378,432 bp from pter
Size:
1,258,198 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ANS1B_HUMAN, Q7Z6G8 (See protein sequence)
Recommended Name: Ankyrin repeat and sterile alpha motif domain-containing protein 1B  
Size: 1248 amino acids; 138066 Da
Subunit: Isoform 3 interacts with DLG4 (By similarity). Interacts with EPHA8. Isoform 2 interacts with COIL.
Isoform 4 interacts with APP and EPHA8. Isoform 6 interacts with EPHA8
Sequence caution: Sequence=AAP38184.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
4 PDB 3D structures from and Proteopedia for ANKS1B:
2EAM (3D)        2KE7 (3D)        2KIV (3D)        2M38 (3D)    
Secondary accessions: A5PKY5 A7E259 A8K153 A8MSN4 B4DFP6 B4DH98 F8VPM3 F8VZR9 F8WC27 Q5XLJ0
Q6IVB5 Q6NUS4 Q7Z6G6 Q7Z6G7 Q8TAP3 Q9NRX7 Q9Y5K9
Alternative splicing: 10 isoforms:  Q7Z6G8-1   Q7Z6G8-2   Q7Z6G8-3   Q7Z6G8-4   Q7Z6G8-5   Q7Z6G8-6   Q7Z6G8-7   Q7Z6G8-8   
Q7Z6G8-9   Q7Z6G8-10   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANKS1B: NX_Q7Z6G8

Explore proteomics data for ANKS1B at MOPED

Post-translational modifications: 

  • Isoform 3 nuclear translocation requires an NMDAR-dependent proteolytic cleavage (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ANKS1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (12 alternative transcripts): 
    NP_001190994.1  NP_001190995.1  NP_001190996.1  NP_001190997.1  NP_001190998.1  NP_001190999.1  NP_001191008.1  NP_001191009.1  
    NP_001191010.1  NP_064525.1  NP_690001.3  NP_858056.2  

    ENSEMBL proteins: 
     ENSP00000452523   ENSP00000345510   ENSP00000448993   ENSP00000449629   ENSP00000448512  
     ENSP00000447999   ENSP00000447312   ENSP00000448203   ENSP00000450015   ENSP00000331256  
     ENSP00000448744   ENSP00000473277   ENSP00000448205   ENSP00000447839   ENSP00000473522  
     ENSP00000473331   ENSP00000473300   ENSP00000473513   ENSP00000473673   ENSP00000473434  
     ENSP00000473517   ENSP00000449894   ENSP00000331381   ENSP00000332683  

    ANKS1B Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ANKS1B

     
    Search eBioscience for Proteins for ANKS1B 

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    Abcam antibodies for ANKS1B
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    Search ThermoFisher Antibodies for ANKS1B
    LSBio Antibodies in human, mouse, rat for ANKS1B

    ANKS1B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ANKS1B
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    Search eBioscience for ELISAs for ANKS1B 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing
    SAMD: Sterile alpha motif (SAM) domain containing

    Selected InterPro protein domains (see all 7):
     IPR021129 SAM_type1
     IPR011993 PH_like_dom
     IPR002110 Ankyrin_rpt
     IPR013761 SAM/pointed
     IPR001660 SAM

    Graphical View of Domain Structure for InterPro Entry Q7Z6G8

    ProtoNet protein and cluster: Q7Z6G8

    2 Blocks protein domains:
    IPB001660 Sterile alpha motif SAM
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ANS1B_HUMAN, Q7Z6G8
    Similarity: Contains 7 ANK repeats
    Similarity: Contains 1 PID domain
    Similarity: Contains 2 SAM (sterile alpha motif) domains


    Find genes that share domains with ANKS1B           About GenesLikeMe


    (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, 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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANS1B_HUMAN, Q7Z6G8
    Function: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and
    transformed cells
    Function: Isoform 3 can regulate global protein synthesis by altering nucleolar numbers (By similarity)
    Function: Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP
    processing
    Induction: Transcriptionally up-regulated in t(1:19) pre-B cell acute lymphocytic leukemia by the chimeric
    TCF3-PBX1. Not expressed in pre-B cell that lack this translocation

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0046875ephrin receptor binding IPI17875921
         
    Find genes that share ontologies with ANKS1B           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ANKS1B:
     Decreased viability of wild-ty 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Anks1b):
     behavior/neurological  growth/size/body  homeostasis/metabolism 

    Find genes that share phenotypes with ANKS1B           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANKS1B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ANKS1B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANKS1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANKS1B

    miRNA
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    miRTarBase miRNAs that target ANKS1B:
    hsa-mir-124-3p (MIRT022633)

    Block miRNA regulation of human, mouse, rat ANKS1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ANKS1B (see all 34):
    hsa-miR-582-3p hsa-miR-485-3p hsa-miR-624 hsa-miR-218 hsa-miR-371-5p hsa-miR-374c hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): ANKS1B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ANKS1B

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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 12): ANKS1B (NM_020140)
    Sino Biological Human cDNA Clone for ANKS1B
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKS1B

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANKS1B


    (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
    ANS1B_HUMAN, Q7Z6G8: Cytoplasm
    ANS1B_HUMAN, Q7Z6G8: Isoform 2: Nucleus
    ANS1B_HUMAN, Q7Z6G8: Isoform 3: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell
    projection, dendritic spine. Nucleus. Nucleus, Cajal body. Note=The synaptic localization requires DLG4
    interaction. Translocation to the nucleus in response to stimulation of NMDA receptors (NMDARs) in a
    calcium-independent manner (By similarity)
    ANS1B_HUMAN, Q7Z6G8: Isoform 4: Nucleus. Note=The interaction with APP causes its partial exclusion from the
    nucleus, when APP is overexpressed
    ANS1B_HUMAN, Q7Z6G8: Isoform 6: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3
    plasma membrane3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0014069postsynaptic density IEA--
    GO:0015030Cajal body IEA--
    GO:0030054cell junction IEA--
    GO:0043197dendritic spine IEA--

    Find genes that share ontologies with ANKS1B           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 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANKS1B
    Interactions:

        Search GeneGlobe Interaction Network for ANKS1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for ANKS1B (Q7Z6G82, 3 ENSP000003313814) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGB7P260102, 3, ENSP000002670824MINT-45907 I2D: score=1 STRING: ENSP00000267082
    ERBB2P046262, 3MINT-74531 I2D: score=2 
    ITGB2P051072, 3MINT-45909 I2D: score=1 
    ITGB3P051062, 3MINT-45908 I2D: score=1 
    ERBB4Q153032, 3, ENSP000003422354MINT-74532 I2D: score=1 STRING: ENSP00000342235
    About this table

    (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 ANKS1B (ANS1B)

    1 HMDB Compound for ANKS1B    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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 )
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    REFSEQ mRNAs for ANKS1B gene (12 alternative transcripts): 
    NM_001204065.1  NM_001204066.1  NM_001204067.1  NM_001204068.1  NM_001204069.1  NM_001204070.1  NM_001204079.1  NM_001204080.1  
    NM_001204081.1  NM_020140.3  NM_152788.4  NM_181670.3  

    Unigene Cluster for ANKS1B:

    Ankyrin repeat and sterile alpha motif domain containing 1B
    Hs.506458  [show with all ESTs]
    Unigene Representative Sequence: NM_152788
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 35):
    ENST00000555119 ENST00000341752(uc010svd.2) ENST00000549558(uc001tgd.2)
    ENST00000547776(uc001tge.2 uc001tgf.2) ENST00000551212 ENST00000547010
    ENST00000550693(uc009ztp.3 uc010svf.2 uc010sve.2 uc001tgh.4 uc001tgi.3 uc009zts.2 uc009ztr.3 uc001tgj.3 uc010svg.2 uc001tgk.3)
    ENST00000549025(uc001tgg.4) ENST00000549493 ENST00000547446 ENST00000333732
    ENST00000550778 ENST00000547362 ENST00000546568 ENST00000546960 ENST00000549315
    ENST00000546364 ENST00000552407
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ANKS1B (see all 34):
    hsa-miR-582-3p hsa-miR-485-3p hsa-miR-624 hsa-miR-218 hsa-miR-371-5p hsa-miR-374c hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): ANKS1B 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANKS1B
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ANKS1B
      QuantiFast Probe-based Assays in human, mouse, rat ANKS1B

    Additional mRNA sequence: 

    AF145204.1 AF164792.1 AK124453.1 AK289768.1 AK294191.1 AK294994.1 AK295988.1 AK315954.1 
    AM980945.1 AY281131.1 AY281132.1 AY283057.2 AY356353.1 AY620824.1 AY753193.1 BC026313.1 
    BC068451.1 BC091512.1 BC142669.1 BC150204.1 

    Selected DOTS entries (see all 30):

    DT.95198331  DT.445229  DT.121196748  DT.98131793  DT.101977975  DT.95175367  DT.80101874  DT.95198330 
    DT.99979845  DT.100781260  DT.121196873  DT.411472  DT.121196864  DT.91749989  DT.91896386  DT.40113866 
    DT.75155633  DT.101981772  DT.121196876  DT.40123835  DT.121196764  DT.121196897  DT.121196963  DT.40196960 

    6 AceView cDNA sequences:

    BX954965 BG338019 BG338153 AK124453 NM_152788 BF973535 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ANKS1B    About this scheme

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

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                -         
    SP2:                                -         
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for ANKS1B

    (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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    ANKS1B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAACCTTGT
    ANKS1B Expression
    About this image


    ANKS1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells
    ANKS1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANKS1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.506458

    UniProtKB/Swiss-Prot: ANS1B_HUMAN, Q7Z6G8
    Tissue specificity: Highly expressed in marrow from patients with pre-B ALL associated with the t(1;19)
    translocation. Strongly expressed in brain and testis. Expressed in fetal brain. Isoform 4 is highly expressed in
    brain (at protein level). Isoform 6 is expressed in brain and several cancer cell lines

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ANKS1B gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Anks1b1 , 5 ankyrin repeat and sterile alpha motif domain containing more1, 5 89.76(n)1
    93.97(a)1
      10 (45.28 cM)5
    775311  NM_001128086.21  NP_001121558.21 
     898735095 
    chicken
    (Gallus gallus)
    Aves ANKS1B1 ankyrin repeat and sterile alpha motif domain containing more 78.91(n)
    82.89(a)
      417927  NM_001252062.1  NP_001238991.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    94(a)
    80(a)
    many → 1
    many → 1
    5(28822080-28842646)
    5(28822080-29232783)
    zebrafish
    (Danio rerio)
    Actinopterygii anks1b1 ankyrin repeat and sterile alpha motif domain containing more 64.97(n)
    68.25(a)
      565408  NM_001100017.2  NP_001093487.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG111686
    CG43936
    --
    31(a)
    24(a)
    many ↔ many
    many ↔ many
    3R(20743868-20748111)
    3R(19202933-19210499)
    worm
    (Caenorhabditis elegans)
    Secernentea C11E4.66
    Protein C11E4.6 (C11E4.6) mRNA, complete cds
    20(a)
    1 → many
    X(9610563-9617024) WBGene00007520


    ENSEMBL Gene Tree for ANKS1B (if available)
    TreeFam Gene Tree for ANKS1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANKS1B gene
    CASKIN12  ANKS1A2  CASKIN22  
    4 SIMAP similar genes for ANKS1B using alignment to 16 protein entries:     ANS1B_HUMAN (see all proteins):
    ANKS1A    CDKN2C    ANKRD44    IkBa

    Find genes that share paralogs with ANKS1B           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ANKS1B
    PGOHUM00000261137


    (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 ANKS1B (see all 24030)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452638321,2
    C--98967469(+) TATTTC/TTGACC 3 -- ds50010--------
    rs1422933441,2
    C--98967552(+) TGGAGA/GTAAAT 3 -- ds50010--------
    rs1510085941,2
    C--98967609(+) TTTTTC/TTGTTT 3 -- ds50010--------
    rs1816027281,2
    --98967659(+) AGTAGA/TTAACT 3 -- ds50010--------
    rs1408969891,2
    --98967687(+) CATATC/TAGTAT 3 -- ds50010--------
    rs731423181,2
    C--98967724(+) TAAGGA/GAATAG 3 -- ds50010--------
    rs607603451,2
    C,F--98968088(+) ATGGCC/TCTTGT 3 -- ut312Minor allele frequency- T:0.04WA 120
    rs1169289651,2
    C,F--98968239(+) AAATGG/AGAAGA 3 -- ut311Minor allele frequency- A:0.09EA 120
    rs1862724911,2
    --98968338(+) ATTTTG/TTTTTG 3 -- ut310--------
    rs1162896851,2
    F--98968356(+) CAGATG/AAGCAT 3 -- ut311Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for ANKS1B (99120235 - 99370235 bp, first 250kb of ANKS1B)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANKS1B (see all 55):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2657898CNV Deletion23128226
    dgv306e199CNV Deletion23128226
    esv2672155CNV Deletion23128226
    dgv307e199CNV Deletion23128226
    esv2668892CNV Deletion23128226
    esv2746270CNV Deletion23290073
    esv2746269CNV Deletion23290073
    esv2746273CNV Deletion23290073
    esv2672495CNV Deletion23128226
    esv2421630CNV Deletion20811451

    Human Gene Mutation Database (HGMD): ANKS1B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANKS1B
    DNA2.0 Custom Variant and Variant Library Synthesis for ANKS1B

    (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.)
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    OMIM gene information: 607815    OMIM disorders: --

    1 disease for ANKS1B:    
    About MalaCards
    acute lymphocytic leukemia


    Find genes that share disorders with ANKS1B           About GenesLikeMe

    1 Novoseek inferred disease relationship for ANKS1B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 28.7 2 15004329 (1), 16769578 (1)

    Genetic Association Database (GAD): ANKS1B
    Human Genome Epidemiology (HuGE) Navigator: ANKS1B (7 documents)

    Export disorders for ANKS1B 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 ANKS1B gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with ANKS1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. EB-1, a tyrosine kinase signal transduction gene, is transcriptionally activated in the t(1;19) subset of pre-B ALL, which express oncoprotein E2a-Pbx1. (PubMed id 10490826)1, 2, 3, 9 Fu X.... Kamps M.P. (Oncogene 1999)
    2. The effects of siRNA-mediated inhibition of E2A-PBX1 on EB-1 and Wnt16b expression in the 697 pre-B leukemia cell line. (PubMed id 16769578)1, 2, 9 Casagrande G.... Basso G. (Haematologica 2006)
    3. The intracellular localization of amyloid beta protein precursor (AbetaPP) intracellular domain associated protein-1 (AIDA-1) is regulated by AbetaPP and alternative splicing. (PubMed id 15004329)1, 2, 9 Ghersi E.... D'Adamio L. (J. Alzheimers Dis. 2004)
    4. Amyloid-beta protein precursor (AbetaPP) intracellular domain- associated protein-1 proteins bind to AbetaPP and modulate its processing in an isoform-specific manner. (PubMed id 15347684)1, 2, 9 Ghersi E.... D'Adamio L. (J. Biol. Chem. 2004)
    5. Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. (PubMed id 21107309)1, 4 McClay J.L....van den Oord E.J. (Neuropsychopharmacology 2011)
    6. Genome-wide pharmacogenomic analysis of response to treatment with antipsychotics. (PubMed id 19721433)1, 4 McClay J.L....van den Oord E.J. (Mol. Psychiatry 2011)
    7. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PubMed id 20966902)1, 4 Croteau-Chonka D.C....Mohlke K.L. (Obesity (Silver Spring) 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. The genetic background difference between diabetic patients with and without nephropathy in a Taiwanese population by linkage disequilibrium mapping using 382 autosomal STR markers. (PubMed id 20578947)1, 4 Pei D....Wu L.S. (Genet Test Mol Biomarkers 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 56899 HGNC: 24600 AceView: EB-1.1 Ensembl:ENSG00000185046 euGenes: HUgn56899
    ECgene: ANKS1B H-InvDB: ANKS1B

    (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 ANKS1B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANKS1B gene:
    Search GeneIP for patents involving ANKS1B

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



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