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MS4A1 Gene

protein-coding   GIFtS: 61
GCID: GC11P060225

Membrane-Spanning 4-Domains, Subfamily A, Member 1


(Previous symbol: CD20)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Membrane-Spanning 4-Domains, Subfamily A, Member 11 2     MS4A22
CD201 2 3 5     S72
Leukocyte Surface Antigen Leu-162 3     B-Lymphocyte Antigen CD202
Bp352 3     B-Lymphocyte Cell-Surface Antigen B12
CD20 Antigen2 3     CD20 Receptor2
CVID52 5     B-Lymphocyte Surface Antigen B13
B12     Membrane-Spanning 4-Domains Subfamily A Member 13
LEU-162     

External Ids:    HGNC: 73151   Entrez Gene: 9312   Ensembl: ENSG000001567387   OMIM: 1122105   UniProtKB: P118363   

Export aliases for MS4A1 gene to outside databases

Previous GC identifers: GC11P062617 GC11P061736 GC11P060474 GC11P059998 GC11P059979 GC11P056570


(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 MS4A1 Gene:
This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are
characterized by common structural features and similar intron/exon splice boundaries and display unique
expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface
molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family
member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two
transcript variants which encode the same protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for MS4A1 Gene:
MS4A1 (membrane-spanning 4-domains, subfamily A, member 1) is a protein-coding gene. Diseases associated with MS4A1 include prolymphocytic leukemia, and immunodeficiency, common variable, 5.

UniProtKB/Swiss-Prot: CD20_HUMAN, P11836
Function: This protein may be involved in the regulation of B-cell activation and proliferation

Gene Wiki entry for MS4A1 (CD20) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the MS4A1 gene promoter:
         c-Fos   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMS4A1 promoter sequence
   Search Chromatin IP Primers for MS4A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MS4A1


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

Entrez Gene cytogenetic band: 11q12   Ensembl cytogenetic band:  11q12.2   HGNC cytogenetic band: 11q12-q13.1

MS4A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MS4A1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P060225:  view genomic region     (about GC identifiers)

Start:
60,223,225 bp from pter      End:
60,238,233 bp from pter
Size:
15,009 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CD20_HUMAN, P11836 (See protein sequence)
Recommended Name: B-lymphocyte antigen CD20  
Size: 297 amino acids; 33077 Da
Caution: Epitope 1, mapped in PubMed:16785532, is predicted to be buried in the membrane. Its accessibility to the
extracellular space, and thus to antibody recognition, is not explained
4 PDB 3D structures from and Proteopedia for MS4A1:
1S8B (3D)        2OSL (3D)        3BKY (3D)        3PP4 (3D)    
Secondary accessions: A6NMS4 P08984 Q13963

Explore the universe of human proteins at neXtProt for MS4A1: NX_P11836

Explore proteomics data for MS4A1 at MOPED

Post-translational modifications: 

  • Phosphorylated. Might be functionally regulated by protein kinase(s)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MS4A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_068769.2  NP_690605.1  

    ENSEMBL proteins: 
     ENSP00000433179   ENSP00000432219   ENSP00000433519   ENSP00000433277   ENSP00000432270  
     ENSP00000437002   ENSP00000314620   ENSP00000374589  

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    Novus Biologicals MS4A1 Proteins
    Novus Biologicals MS4A1 Lysates
    Sino Biological Recombinant Protein for MS4A1
    Sino Biological Cell Lysate for MS4A1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MS4A1

    MS4A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MS4A1
    R&D Systems Antibodies for MS4A1 (MS4A1/CD20)
    OriGene Antibodies for MS4A1
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    Novus Biologicals MS4A1 Antibodies
    Abcam antibodies for MS4A1
    Cloud-Clone Corp. Antibodies for MS4A1
    ThermoFisher Antibody for MS4A1
    LSBio Antibodies in human, mouse, rat for MS4A1

    MS4A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MS4A1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MS4A1
    Cloud-Clone Corp. CLIAs for MS4A1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules

    1 InterPro protein domain:
     IPR007237 CD20-like

    Graphical View of Domain Structure for InterPro Entry P11836

    ProtoNet protein and cluster: P11836

    1 Blocks protein domain: IPB007237 CD20/IgE Fc receptor beta subunit

    UniProtKB/Swiss-Prot: CD20_HUMAN, P11836
    Similarity: Belongs to the MS4A family


    MS4A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CD20_HUMAN, P11836
    Function: This protein may be involved in the regulation of B-cell activation and proliferation

         Genatlas biochemistry entry for MS4A1:
    membrane-spanning 4-domains,subfamily A,member 1,expressed in most cells,complexing with an alpha chain and a
    homodimeric gamma subunit

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005154epidermal growth factor receptor binding IEA--
    GO:0023026MHC class II protein complex binding IDA--
         
    MS4A1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MS4A1:
     Decreased number of cells in m  Increased S DNA content, incre 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ms4a1):
     hematopoietic system  immune system 

    MS4A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MS4A1: Ms4a1tm1Tft Ms4a1tm1Msn

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MS4A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MS4A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MS4A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MS4A1

    miRNA
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    miRTarBase miRNAs that target MS4A1:
    hsa-mir-335-5p (MIRT017962)

    Block miRNA regulation of human, mouse, rat MS4A1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MS4A1:
    hsa-miR-576-5p hsa-miR-499-3p hsa-miR-518a-5p hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidMS4A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MS4A1
    Predesigned siRNA for gene silencing in human, mouse, rat MS4A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MS4A1

    Clone
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    OriGene clones in human, mouse for MS4A1 (see all 12)
    OriGene ORF clones in mouse, rat for MS4A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MS4A1 (NM_021950)
    Sino Biological Human cDNA Clone for MS4A1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MS4A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MS4A1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MS4A1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MS4A1


    (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
    CD20_HUMAN, P11836: Cell membrane; Multi-pass membrane protein. Cell membrane; Lipid-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    nucleus4
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005730nucleolus ----
    GO:0005887integral component of plasma membrane NAS2448768
    GO:0009897external side of plasma membrane IEA--
    GO:0016021integral component of membrane ----

    MS4A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MS4A1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Hematopoietic cell lineage
    Hematopoietic cell lineage

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for MS4A1):
        Hematopoietic cell lineage


    MS4A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MS4A1: 
              Cell Surface Markers in human mouse rat
              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MS4A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for MS4A1 (P118363 ENSP000003146204) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206308P019033, ENSP000003727464I2D: score=1 STRING: ENSP00000372746
    ENSG00000226260P019033I2D: score=1 
    ENSG00000227993P019033I2D: score=1 
    ENSG00000228987P019033I2D: score=1 
    ENSG00000230726P019033I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006959humoral immune response NAS2448768
    GO:0042100B cell proliferation NAS2448768
    GO:0042113B cell activation ----

    MS4A1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for MS4A1 (CD20)

    UniProtKB/Swiss-Prot: CD20_HUMAN, P11836
    Pharmaceutical: Monoclonal antibodies (mAb) against CD20 are used to treat B-cell non-Hodgkin lymphoma (NHL).
    These antibodies include Rituximab (Mabthera), Britumomab (Zevalin) and Tositumomab (Bexxar). CD20 engaged by mAb
    can generate transmembrane signals capable of directly controlling cell growth and triggering cell death in
    certain tumors. Alternatively, mAb can mediate complement-dependent cytotoxicity

    3 DrugBank Compounds for MS4A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    IbritumomabIg gamma-2A chain C region, membrane-bound form (see all 2)174722-31-7targetantibody12011122 11752352 11879282 10541376 11418316 20113680 15045033
    Tositumomab-- 192391-48-3targetantibody11752352 14748653 15023434 13129395 12899647 11879282 11418316
    RituximabAntiCD20 (see all 2)174722-31-7targetantibody11752352 20350667 20350663

    7 Novoseek inferred chemical compound relationships for MS4A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rituximab 87 97 12893761 (6), 16289746 (5), 18794139 (4), 19211644 (4) (see all 33)
    fludarabine 44.1 1 19895616 (1)
    hematoxylin 30.7 1 18305433 (1)
    paraffin 28.7 2 8372941 (1), 12533691 (1)
    cyclophosphamide 19.7 1 19895616 (1)
    calcium 6.82 16 7684739 (6), 18316581 (2), 14976189 (1), 16162271 (1)
    lipid 0 2 14976189 (1), 18316581 (1)



    MS4A1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MS4A1 gene (2 alternative transcripts): 
    NM_021950.3  NM_152866.2  

    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524807 ENST00000532491 ENST00000527101 ENST00000532073 ENST00000534668(uc001npp.3 uc009yna.3)
    ENST00000528313 ENST00000534503(uc009ymy.1) ENST00000533306 ENST00000532418
    ENST00000530482 ENST00000345732(uc001npq.3 uc009ymz.3 uc010rlc.2)
    ENST00000389939
    miRNA
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    Block miRNA regulation of human, mouse, rat MS4A1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate MS4A1:
    hsa-miR-576-5p hsa-miR-499-3p hsa-miR-518a-5p hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidMS4A1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MS4A1
    Predesigned siRNA for gene silencing in human, mouse, rat MS4A1
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    GenScript: all cDNA clones in your preferred vector (see all 2): MS4A1 (NM_021950)
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MS4A1
      QuantiTect SYBR Green Assays in human, mouse, rat MS4A1
      QuantiFast Probe-based Assays in human, mouse, rat MS4A1

    Selected AceView cDNA sequences (see all 146):

    X07204 AA411806 AA714528 BE675149 AW512599 AA814100 AI080700 BQ006410 
    NM_021950 AA505051 BI829760 NM_152866 BC029884 AI253701 AI864701 AI520832 
    CR617832 AA287127 BE045311 AA416972 AI864832 BX401902 AI568384 AA286702 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MS4A1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b
    SP1:                          -     -     -     -                                   -     -           -     -                                       
    SP2:                          -                       -                                                                                             
    SP3:                          -                       -                             -     -                                                         
    SP4:                          -     -     -     -                                   -     -           -     -                                       
    SP5:                          -     -     -     -                                   -     -                                                         


    ECgene alternative splicing isoforms for MS4A1

    (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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    MS4A1 expression in normal human tissues (normalized intensities)      MS4A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGAGTGCTG
    MS4A1 Expression
    About this image


    MS4A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Mature B-Cells Peripheral Blood
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Tonsil (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    MS4A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MS4A1 Protein Expression

    UniProtKB/Swiss-Prot: CD20_HUMAN, P11836
    Tissue specificity: Expressed on B-cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MS4A1: 
              Cell Surface Markers in human mouse rat
              Lymphoma in human mouse rat
              T-cell & B-cell Activation in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MS4A1
    OriGene qSTAR qPCR primer pairs in human, mouse for MS4A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MS4A1
    QuantiTect SYBR Green Assays in human, mouse, rat MS4A1
    QuantiFast Probe-based Assays in human, mouse, rat MS4A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MS4A1

    (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 human and mouse.

    Orthologs for MS4A1 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ms4a11 , 5 membrane-spanning 4-domains, subfamily A, member 11, 5 82.87(n)1
    74.83(a)1
      19 (8.19 cM)5
    124821  NM_007641.51  NP_031667.11 
     112506035 


    ENSEMBL Gene Tree for MS4A1 (if available)
    TreeFam Gene Tree for MS4A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MS4A1 gene
    2 SIMAP similar genes for MS4A1 using alignment to 4 protein entries:     CD20_HUMAN (see all proteins):
    MS4A8    MS4A5

    MS4A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MS4A1 (see all 570)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1883966511,2
    --60221368(+) AAAAGA/GAAATT 2 -- us2k10--------
    rs1905457381,2
    --60221392(+) TACTAA/GCTAAA 2 -- us2k10--------
    rs38090881,2
    C,F,A,H--60221420(-) AGTCTG/ACATAA 2 -- us2k117Minor allele frequency- A:0.31NS EA NA WA CSA 795
    rs1831963221,2
    --60221537(+) TGGGGA/GAAGAG 2 -- us2k10--------
    rs1473394151,2
    --60221725(+) AAGTTA/TTCTCA 2 -- us2k10--------
    rs1394630981,2
    --60221731(+) TCTCAC/TTGGCC 2 -- us2k10--------
    rs734831071,2
    C--60221778(+) TACAGG/AGCTCA 2 -- us2k12Minor allele frequency- A:0.03WA 120
    rs1452968271,2
    --60221835(+) AGCCCA/CTTTGC 2 -- us2k10--------
    rs744789181,2
    C--60221936(+) CCTCAA/GGTTTC 2 -- us2k10--------
    rs1490821741,2
    --60222027(+) CCTCAA/TTTAGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MS4A1 (60223225 - 60238233 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for MS4A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744572CNV Deletion23290073
    esv2661434CNV Deletion23128226
    esv4679CNV Deletion18987735
    esv2744569CNV Deletion23290073
    esv28830CNV Loss19812545
    nsv508635CNV Loss20534489
    nsv471730CNV Loss16327809

    Human Gene Mutation Database (HGMD): MS4A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MS4A1
    DNA2.0 Custom Variant and Variant Library Synthesis for MS4A1

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

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    OMIM gene information: 112210   
    OMIM disorders: 613495  
    UniProtKB/Swiss-Prot: CD20_HUMAN, P11836
  • Immunodeficiency, common variable, 5 (CVID5) [MIM:613495]: A primary immunodeficiency characterized by
    antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody
    response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of
    immunoglobulins; the numbers of circulating B cells is usually in the normal range, but can be low. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for MS4A1 (see all 68):    About MalaCards
    prolymphocytic leukemia    immunodeficiency, common variable, 5    plasmablastic lymphoma    histiocytic sarcoma
    t-cell prolymphocytic leukemia    cold agglutinin disease    immunodeficiency, common variable, 9    membranous glomerulonephritis
    lymphatic system disease    b cell prolymphocytic leukemia    waldenstrom macroglobulinemia    macroglobulinemia
    gastrointestinal system disease    lung squamous cell carcinoma    acquired immunodeficiency syndrome    systemic mastocytosis
    herpes zoster    peripheral t-cell lymphoma    non-hodgkin lymphoma    lymphoid leukemia


    MS4A1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MS4A1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoma b-cell 79.6 17 19211644 (3), 17675267 (1), 19246561 (1), 19276251 (1) (see all 6)
    lymphoma non-hodgkins 77.5 9 15944291 (2), 11924912 (1), 16367924 (1), 12411587 (1) (see all 8)
    lymphoma 70.8 41 19054557 (2), 19381025 (2), 19276251 (2), 17430665 (2) (see all 16)
    lymphocytic leukemia chronic b-cell 70.7 4 1694698 (1), 11719378 (1), 18794139 (1), 18497318 (1)
    lymphoma small lymphocytic 70.5 11 12411587 (1), 19381025 (1), 17430665 (1), 19276251 (1)
    leukemia lymphocytic chronic 69.5 14 18794139 (1), 15944291 (1), 11924912 (1), 19381025 (1) (see all 7)
    lymphoma follicular 68.5 1 12411587 (1)
    waldenstrom macroglobulinemia 62.6 1 11226004 (1)
    lymphoma t-cell peripheral 59.3 2 11235901 (2)
    leukemia b-cell 56.5 2 1694698 (1), 18794139 (1)

    Genetic Association Database (GAD): MS4A1
    Human Genome Epidemiology (HuGE) Navigator: MS4A1 (66 documents)

    Export disorders for MS4A1 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 MS4A1 gene, integrated from 10 sources (see all 236):
    (articles sorted by number of sources associating them with MS4A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and structure of a cDNA encoding the B1 (CD20) cell-surface antigen of human B lymphocytes. (PubMed id 2448768)1, 2, 3 Tedder T.F.... Saito H. (Proc. Natl. Acad. Sci. U.S.A. 1988)
    2. Mutation or polymorphism of the CD20 gene is not associated with the response to R-CHOP in diffuse large B cell lymphoma patients. (PubMed id 19054557)1, 4, 9 Sar A....Demetrick D.J. (Leuk. Res. 2009)
    3. CD20 deficiency in humans results in impaired T cell-independent antibody responses. (PubMed id 20038800)1, 2, 9 Kuijpers T.W....van Lier R.A.W. (J. Clin. Invest. 2010)
    4. CD20 mutations involving the rituximab epitope are rare in diffuse large B-cell lymphomas and are not a significant cause of R-CHOP failure. (PubMed id 19211644)1, 4, 9 Johnson N.A....Gascoyne R.D. (Haematologica 2009)
    5. Epitope characterization and crystal structure of GA101 provide insights into the molecular basis for type I/II distinction of CD20 antibodies. (PubMed id 21444918)1, 2 Niederfellner G.... Klein C. (Blood 2011)
    6. Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers. (PubMed id 18095154)1, 4 Walker L.C....Spurdle A.B. (Breast Cancer Res. Treat. 2008)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Structure of the gene encoding the human B lymphocyte differentiation antigen CD20 (B1). (PubMed id 2466899)1, 2 Tedder T.F.... Saito H. (J. Immunol. 1989)
    9. Molecular cloning of the human B cell CD20 receptor predicts a hydrophobic protein with multiple transmembrane domains. (PubMed id 2456210)1, 2 Einfeld D.A.... Ledbetter J.A. (EMBO J. 1988)
    10. Analysis of two cDNA clones encoding the B lymphocyte antigen CD20 (B1, Bp35), a type III integral membrane protein. (PubMed id 3260267)1, 2 Stamenkovic I. and Seed B. (J. Exp. Med. 1988)

    (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)
    About This Section

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    Entrez Gene: 931 HGNC: 7315 AceView: MS4A1andMS4A5 Ensembl:ENSG00000156738 euGenes: HUgn931
    ECgene: MS4A1 Kegg: 931 H-InvDB: MS4A1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for MS4A1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/CD20

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

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    Patent Information for MS4A1 gene:
    Search GeneIP for patents involving MS4A1

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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