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

MS4A1 Gene

protein-coding   GIFtS: 64
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)
About This Section

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

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 histiocytic sarcoma.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MS4A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CD20_HUMAN, P11836 (See protein sequence)
Recommended Name: B-lymphocyte antigen CD20  
Size: 297 amino acids; 33077 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Cell membrane; Lipid-anchor
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:

  • UniProtKB: Phosphorylated. Might be functionally regulated by protein kinase(s)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11836

  • MS4A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MS4A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_068769.2  NP_690605.1  

    ENSEMBL proteins: 
     ENSP00000433179   ENSP00000432219   ENSP00000433519   ENSP00000433277   ENSP00000432270  
     ENSP00000437002   ENSP00000314620   ENSP00000374589  

    Human Recombinant Protein Products for MS4A1: 
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    Sino Biological Recombinant Protein for MS4A1
    Sino Biological Cell Lysate for MS4A1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MS4A1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005886plasma membrane TAS1535625
    GO:0005887integral to plasma membrane TAS1535625
    GO:0009897external side of plasma membrane IEA--
    GO:0016021integral to membrane ----

    MS4A1 for ontologies           About GeneDecksing



    MS4A1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of MS4A1
    R&D Systems Antibodies for MS4A1 (MS4A1/CD20)
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    ThermoFisher Antibody for MS4A1
    LSBio Antibodies in human, mouse, rat for MS4A1 

    Assay Products for MS4A1: 
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    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

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

    MS4A1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MS4A1 
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    miRNA
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    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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                         Customized lentivirus expression plasmids for stable overexpression of MS4A1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MS4A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for 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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MS4A1

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

    5/24 Interacting proteins for MS4A1 (P118363 ENSP000003146204) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response TAS7920628
    GO:0042113B cell activation IEA--

    MS4A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MS4A1 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about MS4A1 / CD20

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MS4A1 gene (2 alternative transcripts): 
    NM_021950.3  NM_152866.2  

    Unigene Cluster for MS4A1:

    Membrane-spanning 4-domains, subfamily A, member 1
    Hs.712553  [show with all ESTs]
    Unigene Representative Sequence: NM_152866
    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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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate MS4A1:
    hsa-miR-576-5p hsa-miR-499-3p hsa-miR-518a-5p hsa-miR-205*
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    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MS4A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MS4A1
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    Additional mRNA sequence: 

    AK225630.1 AK292168.1 AK300025.1 AK310118.1 BC002807.2 X07203.1 X07204.1 X12530.1 

    8 DOTS entries:

    DT.312969  DT.100742171  DT.95285765  DT.97824586  DT.120737160  DT.99981933  DT.40131774  DT.91903832 

    24/146 AceView cDNA sequences (see all 146):

    AI568384 BE675149 AA731893 BQ006410 AA416972 BI829760 AA505051 BE045311 
    NM_021950 AA287489 AA714528 AA814100 AA411806 AI864832 AI080700 AI253701 
    BC029884 AI864701 NM_023945 AA748011 BM791084 AI568297 AA287127 CR617832 

    GeneLoc Exon Structure

    5/12 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/6 selected tissues (see all 6) fully expand
     
     Lymph (Hematopoietic System)    fully expand to see all 5 entries
             lymph node ; non-germinal center cells   
             LYMPH NODE   
     
     Tonsil (Hematopoietic System)    fully expand to see all 2 entries
             tonsil ; non-germinal center cells   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Spleen (Hematopoietic System)    fully expand to see all 2 entries
             spleen ; cells in white pulp   
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose

    See MS4A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MS4A1

    SOURCE GeneReport for Unigene cluster: Hs.712553

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

        SABiosciences Expression via Pathway-Focused 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

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    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)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for MS4A1 gene from 1/7 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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/570 SNPs in MS4A1 are shown (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
    SABiosciences Cancer Mutation 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
    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

  • 20/64 diseases for MS4A1 (see all 64):    About MalaCards
    prolymphocytic leukemia    histiocytic sarcoma    immunodeficiency, common variable, 5    t-cell prolymphocytic leukemia
    cold agglutinin disease    b cell prolymphocytic leukemia    membranous glomerulonephritis    plasmablastic lymphoma
    lymphatic system disease    gastrointestinal system disease    chronic leukemia    acquired immunodeficiency syndrome
    non-hodgkin lymphoma    systemic mastocytosis    hodgkin's lymphoma    herpes zoster
    peripheral t-cell lymphoma    b-cell chronic lymphocytic leukemia    mastocytosis    follicular lymphoma


    MS4A1 for disorders           About GeneDecksing

    10/23 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)
    About This Section

    PubMed articles for MS4A1 gene, integrated from 9 sources (see all 234):
    (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. (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. (2008)
    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. (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. (2009)
    5. Epitope characterization and crystal structure of GA1 01 provide insights into the molecular basis for type I/II distinction of CD20 antibodies. (PubMed id 21444918)1, 2 Niederfellner G....Klein C. (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. (2007)
    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. (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. (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. (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. (1988)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 931 HGNC: 7315 AceView: MS4A1andMS4A5 Ensembl:ENSG00000156738 euGenes: HUgn931
    ECgene: MS4A1 Kegg: 931 H-InvDB: MS4A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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
    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



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    About This Section

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