Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



BANK1 Gene

protein-coding   GIFtS: 51
GCID: GC04P102332

B-Cell Scaffold Protein With Ankyrin Repeats 1

  See BANK1-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

TryGeneCards Plus

Aliases
B-Cell Scaffold Protein With Ankyrin Repeats 11 2
BANK2 5
B-Cell Scaffold Protein With Ankyrin Repeats2
FLJ207065

External Ids:    HGNC: 182331   Entrez Gene: 550242   Ensembl: ENSG000001530647   OMIM: 6102925   UniProtKB: Q8NDB23   

Export aliases for BANK1 gene to outside databases

Previous GC identifers: GC04P103170 GC04P103069 GC04P102930 GC04P102711 GC04P098449


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

TryGeneCards Plus

Entrez Gene summary for BANK1 Gene:
The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced
calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine
phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with
susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Oct 2009)

GeneCards Summary for BANK1 Gene:
BANK1 (B-cell scaffold protein with ankyrin repeats 1) is a protein-coding gene. Diseases associated with BANK1 include systemic lupus erythematosus, association with, and multifocal motor neuropathy. An important paralog of this gene is PIK3AP1.

UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
Function: Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes
Lyn-mediated phosphorylation of IP3 receptors 1 and 2




(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

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_016354.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the BANK1 gene promoter:
         TBP   LHX3b/Lhx3b   AML1a   Evi-1   POU2F1   POU2F1a   c-Myb   LHX3a/Lhx3a   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBANK1 promoter sequence
   Search Chromatin IP Primers for BANK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BANK1


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

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q23

BANK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BANK1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P102332:  view genomic region     (about GC identifiers)

Start:
102,332,443 bp from pter      End:
102,995,969 bp from pter
Size:
663,527 bases      Orientation:
plus 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.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2 (See protein sequence)
Recommended Name: B-cell scaffold protein with ankyrin repeats  
Size: 785 amino acids; 89282 Da
Subunit: Interacts with LYN, ITPR1 and ITPR2
Sequence caution: Sequence=BAA91337.1; Type=Frameshift; Positions=571, 681;
Secondary accessions: A8K7W8 B0F3S2 Q8N5K8 Q8NB56 Q8WYN5 Q9NWP2
Alternative splicing: 4 isoforms:  Q8NDB2-1   Q8NDB2-2   Q8NDB2-3   Q8NDB2-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BANK1: NX_Q8NDB2

Explore proteomics data for BANK1 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosines upon BCR activation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BANK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001077376.2  NP_001120979.2  NP_060405.4  

    ENSEMBL proteins: 
     ENSP00000421443   ENSP00000320509   ENSP00000422314   ENSP00000388817   ENSP00000412748  

    BANK1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BANK1
    GenScript Custom Purified and Recombinant Proteins Services for BANK1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BANK1

     
    Search eBioscience for Proteins for BANK1 

    BANK1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for BANK1
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for BANK1
    Novus Biologicals BANK1 Antibody
    Abcam antibodies for BANK1
    Cloud-Clone Corp. Antibodies for BANK1
    Search ThermoFisher Antibodies for BANK1
    LSBio Antibodies in human, mouse, rat for BANK1

    BANK1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BANK1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BANK1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BANK1
    Cloud-Clone Corp. CLIAs for BANK1
    Search eBioscience for ELISAs for BANK1 


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

    TryGeneCards Plus
    HGNC Gene Families:
    ANKRD: Ankyrin repeat domain containing

    2 InterPro protein domains:
     IPR017893 DBB_domain
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q8NDB2

    ProtoNet protein and cluster: Q8NDB2

    UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
    Similarity: Contains 2 ANK repeats
    Similarity: Contains 1 DBB domain


    Find genes that share domains with BANK1           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.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BANK1_HUMAN, Q8NDB2
    Function: Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes
    Lyn-mediated phosphorylation of IP3 receptors 1 and 2

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with BANK1           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bank1):
     hematopoietic system  immune system 

    Find genes that share phenotypes with BANK1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bank1tm1Kuro for BANK1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BANK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BANK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BANK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BANK1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat BANK1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate BANK1:
    hsa-miR-539 hsa-miR-374b hsa-miR-4263 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidBANK1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BANK1
    Predesigned siRNA for gene silencing in human, mouse, rat BANK1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BANK1

    Clone
    Products:
         
    OriGene clones in human, mouse for BANK1 (see all 17)
    OriGene ORF clones in mouse, rat for BANK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): BANK1 (NM_017935)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BANK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BANK1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BANK1
    Browse ESI BIO Cell Lines and PureStem Progenitors for BANK1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BANK1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-13488) for BANK1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    cytoskeleton1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for BANK1 About    
    See pathways by source

    SuperPathContained pathways About
    1B Cell Receptor Signaling Pathway (WikiPathways)
    B Cell Receptor Signaling Pathway


    1 BioSystems Pathway for BANK1
        B Cell Receptor Signaling Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BANK1
    Interactions:

        GeneGlobe Interaction Network for BANK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for BANK1 (Q8NDB22, 3 ENSP000003205094) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 I2D: score=1 STRING: ENSP00000238081
    ITPR1Q146433, ENSP000004059344I2D: score=1 STRING: ENSP00000405934
    ITPR2Q145713, ENSP000003707444I2D: score=1 STRING: ENSP00000370744
    YWHAZP631042, ENSP000003095034MINT-7899812 STRING: ENSP00000309503
    TRAF1Q130773, ENSP000003629944I2D: score=1 STRING: ENSP00000362994
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042113B cell activation IEA--

    Find genes that share ontologies with BANK1           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)
    About This Section

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

    Browse Tocris compounds for BANK1



    (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

    TryGeneCards Plus

    REFSEQ mRNAs for BANK1 gene (3 alternative transcripts): 
    NM_001083907.2  NM_001127507.2  NM_017935.4  

    Unigene Cluster for BANK1:

    B-cell scaffold protein with ankyrin repeats 1
    Hs.480400  [show with all ESTs]
    Unigene Representative Sequence: NM_017935
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000502990 ENST00000504592(uc003hvx.4) ENST00000322953(uc003hvy.4)
    ENST00000508653 ENST00000444316(uc003hvz.4) ENST00000510950 ENST00000504403
    ENST00000428908(uc010ill.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BANK1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate BANK1:
    hsa-miR-539 hsa-miR-374b hsa-miR-4263 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidBANK1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BANK1
    Predesigned siRNA for gene silencing in human, mouse, rat BANK1
    Clone
    Products:
         
    OriGene clones in human, mouse for BANK1 (see all 17)
    OriGene ORF clones in mouse, rat for BANK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): BANK1 (NM_017935)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BANK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BANK1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for BANK1
    OriGene qSTAR qPCR primer pairs in human, mouse for BANK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BANK1
      QuantiTect SYBR Green Assays in human, mouse, rat BANK1
      QuantiFast Probe-based Assays in human, mouse, rat BANK1
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-13488) for BANK1 

    Additional mRNA sequence: 

    AB063170.1 AK093024.1 AK292133.1 AK301936.1 AL834291.1 BC032241.1 EU051376.1 

    5 DOTS entries:

    DT.440743  DT.100018970  DT.100746931  DT.99933693  DT.100746932 

    Selected AceView cDNA sequences (see all 65):

    AI864790 AI684654 AA732383 AA809784 AA804427 AA814890 AW574859 NM_017935 
    BX282056 AW769825 AA876117 BF514276 BF222011 AI018164 BF508911 AA909943 
    AW402219 BC032241 AA885370 AA412105 AI656515 BE882221 BX112689 AW139529 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    BANK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACAAATGCC
    BANK1 Expression
    About this image


    BANK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Tonsil (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    BANK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BANK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.480400

    UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
    Tissue specificity: Expressed in B-cell but not T-cell or myeloid cell lines. Highest expression in CD19(+)
    B-cells, with very low expression in other cell populations

        Custom PCR Arrays for BANK1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for BANK1
    OriGene qSTAR qPCR primer pairs in human, mouse for BANK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BANK1
    QuantiTect SYBR Green Assays in human, mouse, rat BANK1
    QuantiFast Probe-based Assays in human, mouse, rat BANK1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BANK1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for BANK1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bank11 , 5 B cell scaffold protein with ankyrin repeats 11, 5 77.1(n)1
    66.67(a)1
      3 (63.04 cM)5
    2422481  NM_001033350.21  NP_001028522.21 
     1360533635 
    chicken
    (Gallus gallus)
    Aves BANK11 B-cell scaffold protein with ankyrin repeats 1 57.13(n)
    43.21(a)
      422711  XM_004935969.1  XP_004936026.1 
    lizard
    (Anolis carolinensis)
    Reptilia BANK16
    B-cell scaffold protein with ankyrin repeats 1
    33(a)
    1 ↔ 1
    GL343323.1(114787-419354)
    fruit fly
    (Drosophila melanogaster)
    Insecta stumps6
    stumps
    8(a)
    1 → many
    3R(10402941-10433804)


    ENSEMBL Gene Tree for BANK1 (if available)
    TreeFam Gene Tree for BANK1 (if available)

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

    TryGeneCards Plus
    Paralogs for BANK1 gene
    PIK3AP12  

    Find genes that share paralogs with BANK1           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

    TryGeneCards Plus

    Selected SNPs for BANK1 (see all 5349)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105164871,2,,4
    C,F,Hpathogenic1102552897(-) CCAAGC/TGATAT 5 H R mis1 int142Minor allele frequency- T:0.26NS EA NA WA CSA EU 9323
    rs339634101,2
    C--98453440(+) CTTTT-/GGATCT 2 -- int10--------
    rs675225651,2
    C--98464952(+) AAAAA-/CAAATA 2 -- int10--------
    rs346545641,2
    C--98470210(+) TATTGT/-GTACC 2 -- int12Minor allele frequency- -:0.25NA 4
    rs1121463581,2
    C,F--98477588(+) TTTTTT/AAGTTT 3 -- int11Minor allele frequency- A:0.50NA 2
    rs668219321,2
    C--98478533(+) ATGAT-/AGTC  
            
    AGTAG
    3 -- int10--------
    rs674446001,2
    C--98579382(+) TGGGT-/ACATCA 3 -- int10--------
    rs1996653931,2
    --98665685(+) TATTT-/TATATAT 3 -- int10--------
    rs28663971,2
    C,H--98665686(+) attttA/Ttatat 3 -- int11Minor allele frequency- T:0.25NA 4
    rs26312631,2
    --98665697(+) atataA/Taaaat 3 -- int10--------

    HapMap Linkage Disequilibrium report for BANK1 (102332443 - 102582443 bp, first 250kb of BANK1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BANK1 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728058CNV Deletion23290073
    esv2032362CNV Deletion18987734
    esv2728057CNV Deletion23290073
    esv2728054CNV Deletion23290073
    esv2728055CNV Deletion23290073
    esv2728056CNV Deletion23290073
    nsv290436CNV Insertion16902084
    nsv4441CNV Insertion18451855
    nsv4440CNV Insertion18451855
    esv271221CNV Insertion20981092

    Human Gene Mutation Database (HGMD): BANK1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BANK1
    DNA2.0 Custom Variant and Variant Library Synthesis for BANK1

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

    TryGeneCards Plus
    OMIM gene information: 610292   
    OMIM disorders: 152700  
    UniProtKB/Swiss-Prot: BANK1_HUMAN, Q8NDB2
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile
    multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints,
    kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory
    mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated
    erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 4 diseases for BANK1:    
    About MalaCards
    systemic lupus erythematosus, association with    multifocal motor neuropathy    systemic lupus erythematosus    lupus erythematosus

    1 disease from the University of Copenhagen DISEASES database for BANK1:
    Systemic lupus erythematosus

    Find genes that share disorders with BANK1           About GenesLikeMe

    Genetic Association Database (GAD): BANK1
    Human Genome Epidemiology (HuGE) Navigator: BANK1 (20 documents)

    Export disorders for BANK1 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

    TryGeneCards Plus

    PubMed articles for BANK1 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with BANK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. (PubMed id 18204447)1, 2, 4 Kozyrev S.V.... Alarcon-Riquelme M.E. (Nat. Genet. 2008)
    2. BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP3 receptor. (PubMed id 11782428)1, 2, 3 Yokoyama K.... Yamamoto T. (EMBO J. 2002)
    3. Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients. (PubMed id 20881011)1, 4 Webb R....Sawalha A.H. (Ann. Rheum. Dis. 2011)
    4. The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis. (PubMed id 21208380)1, 3 Fan Y....Ye D.Q. (Int. J. Immunogenet. 2011)
    5. C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis. (PubMed id 21480188)1, 3 Coustet B....Allanore Y. (Arthritis Rheum. 2011)
    6. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PubMed id 20962850)1, 4 Budarf M.L....Rioux J.D. (Genes Immun. 2011)
    7. Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. (PubMed id 20848568)1, 4 Sanchez E....AlarcA^n-Riquelme M.E. (Arthritis Rheum. 2010)
    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. BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians. (PubMed id 19815934)1, 4 Rueda B....Martin J. (Ann. Rheum. Dis. 2010)
    10. IRF5 is associated with primary antiphospholipid syndrome, but is not a major risk factor. (PubMed id 20131273)1, 4 Fredi M....AlarcA^n-Riquelme M.E. (Arthritis Rheum. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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

    TryGeneCards Plus
    Entrez Gene: 55024 HGNC: 18233 AceView: BANK1 Ensembl:ENSG00000153064 euGenes: HUgn55024
    ECgene: BANK1 H-InvDB: BANK1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for BANK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for BANK1 gene:
    Search GeneIP for patents involving BANK1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for BANK1 (BANK1)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for BANK1  
     OriGene qPCR primer pairs and template standards for BANK1   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for BANK1  
     OriGene qSTAR qPCR primer pairs in human, mouse for BANK1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for BANK1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for BANK1   OriGene Custom Protein Services for BANK1  

     
     
     Block miRNA regulation of human, mouse, rat BANK1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing BANK1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BANK1 Predesigned siRNA for gene silencing in human, mouse, rat BANK1
     QuantiFast Probe-based Assays in human, mouse, rat BANK1 QuantiTect SYBR Green Assays in human, mouse, rat BANK1
     Custom PCR Arrays for BANK1 Search Chromatin IP Primers for BANK1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BANK1  GeneGlobe Interaction Network for BANK1
     Regulatory tfbs in BANK1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for BANK1 GenScript cDNA clones with any tag delivered in your preferred vector for BANK1
     GenScript Custom Assay Services for BANK1 GenScript Custom overexpressing Cell Line Services for BANK1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for BANK1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     BANK1 antibodies
     Antibodies for BANK1
     See all of Abcam's Antibodies, Kits and Proteins for BANK1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for BANK1
     Antibodies for BANK1
     ELISAs for BANK1
     CLIAs for BANK1



     Browse ESI BIO Cell Lines and PureStem Progenitors for BANK1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BANK1
     SwitchGear 3'UTR luciferase reporter plasmids for BANK1
     SwitchGear Promoter luciferase reporter plasmids for BANK1
     Search ThermoFisher Antibodies for BANK1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BANK1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BANK1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BANK1
     LSBio Antibodies in human, mouse, rat for BANK1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for BANK1
      Search eBioscience for proteins for BANK1
      Search eBioscience for elisas for BANK1
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      BANK1 gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4