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

MS4A1 Gene

protein-coding   GIFtS: 66
GCID: GC11P060225

membrane-spanning 4-domains, subfamily A, member 1


(Previous symbol: CD20)
 Explore 59 diseases affiliated with
MS4A1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MS4A1    

Aliases
for MS4A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Membrane-Spanning 4-Domains, Subfamily A, Member 11 2     LEU-162
CD201 2 3 5     S72
Bp351 2 3     B-Lymphocyte Antigen CD202
B11 2     B-Lymphocyte Cell-Surface Antigen B12
MS4A21 2     CD20 Receptor2
Leukocyte Surface Antigen Leu-162 3     B-Lymphocyte Surface Antigen B13
CD20 Antigen2 3     Membrane-Spanning 4-Domains Subfamily A Member 13
CVID52 5     

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


Summaries
for MS4A1 gene

(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:
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)

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)


Genomic Views
for MS4A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
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 plasmid: MS4A1 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

Proteins
for MS4A1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated. Might be functionally regulated by protein kinase(s)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11836

    • MS4A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals MS4A1 Proteins
    Novus Biologicals MS4A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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
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    Abcam antibodies for MS4A1 
    Uscn Antibodies for MS4A1
    ThermoFisher Antibody for MS4A1

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    Uscn ELISAs and CLIAs for MS4A1

    Protein Domains /
    Families
    for MS4A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MS4A1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007237 CD20-like

    Graphical View of Domain Structure for InterPro Entry P11836

    ProtoNet protein and cluster: P11836

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

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


    Function
    for MS4A1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MS4A1
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    hsa-miR-576-5p hsa-miR-499-3p hsa-miR-518a-5p hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmid: MS4A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MS4A1 (see all 7)
    OriGene shRNA RFP: MS4A1
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    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for MS4A1
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    Cell Line
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    Search LifeMap BioReagents cell lines for MS4A1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MS4A1

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005154epidermal growth factor receptor binding ----


    MS4A1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for MS4A1: Ms4a1tm1Tft Ms4a1tm1Msn
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ms4a1):
     cellular  hematopoietic system  immune system 

    MS4A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MS4A1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Hematopoietic cell lineage
    		Hematopoietic cell lineage1.00

    Pathway sources
    See GeneCards unified pathways
    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)

    5/17 Interacting proteins for MS4A1 (P118363 ENSP000003146204) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYNP062413, ENSP000003576564I2D: score=3 STRING: ENSP00000357656
    CSNK2A2P197843, ENSP000002625064I2D: score=2 STRING: ENSP00000262506
    LCKP062393, ENSP000003378254I2D: score=2 STRING: ENSP00000337825
    CD40P259423, ENSP000003613594I2D: score=3 STRING: ENSP00000361359
    CSNK2A1P684003, ENSP000002172444I2D: score=2 STRING: ENSP00000217244
    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



    Drugs & Compounds
    for MS4A1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    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 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 

    Transcripts
    for MS4A1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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*
    SwitchGear 3'UTR luciferase reporter plasmid: MS4A1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MS4A1 (see all 7)
    OriGene shRNA RFP: MS4A1
    OriGene siRNA: MS4A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MS4A1
    Clone
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    Primer
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    Additional cDNA 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):

    AA286702 NM_023945 AA731893 X07204 BE675149 AW512599 AA714528 AI864701 
    BM909362 CR617832 BM791084 BI829760 NM_021950 AI568297 AA287127 AA411806 
    NM_152867 AI520832 AA416972 BQ006410 AA505051 AA814100 AI080700 AA287489 

    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

    Expression
    for MS4A1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGAGTGCTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MS4A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeBody Subcutaneous White AdiposeAdipose
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for MS4A1 gene

    (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 chordates.

    Orthologs for MS4A1 gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia --
    		 --
    		 23(a)
    		 possible ortholog
    		 GL343276.1(317710-322731)
    zebrafish
    (Danio rerio)    		 Actinopterygii ms4a17a.66
    ms4a17a.16
    (see all 19)    		 membrane-spanning 4-domains, subfamily A, member 1...
    membrane-spanning 4-domains, subfamily A, member 1...
    (see all 19)    		 23(a)
    23(a)
    (see all 19)    		 many ↔ many
    many ↔ many
    (see all 19)    		 4(60662692-60784612)
    4(60713149-60743387)


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

    Paralogs
    for MS4A1 gene

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

    Genomic Variants
    for MS4A1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/507 NCBI SNPs in MS4A1 are shown (see all 507)     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
    		--60221936(+) CCTCAA/GGTTTC 2 -- us2k10--------
    rs1490821741,2
    		--60222027(+) CCTCAA/TTTAGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MS4A1 (60223225 - 60238233 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for MS4A1
         5 CNVs: 43335 85809 65967 0972 75675
    Human Gene Mutation Database (HGMD): MS4A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MS4A1
    DNA2.0 Custom Variant and Variant Library Synthesis for MS4A1

    Disorders / Diseases
    for MS4A1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MS4A1 for disorders           About GeneDecksing

    OMIM gene information: 112210   
    OMIM disorders: 613495  
    UniProtKB/Swiss-Prot: CD20_HUMAN, P11836
  • Defects in MS4A1 are the cause of immunodeficiency common variable type 5 (CVID5) [MIM:613495]; also called
    • antibody deficiency due to CD20 defect. CVID5 is 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

    20/59 diseases for MS4A1 (see all 59):    About MalaCards
    immunodeficiency, common variable, 5    b-cell non-hodgkin lymphoma    diffuse large b-cell lymphoma    hypersensitivity reaction type ii disease
    non-hodgkin lymphoma    cold agglutinin disease    prolymphocytic leukemia    t-cell prolymphocytic leukemia
    b-cell lymphomas    b cell prolymphocytic leukemia    lymphatic system disease    herpes zoster
    membranous glomerulonephritis    hodgkin's lymphoma    gingival overgrowth    lymphocytic leukemia
    burkitt's lymphoma    mantle cell lymphoma    acquired immunodeficiency syndrome    systemic mastocytosis

    10/23 Novoseek 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

    Publications
    for MS4A1 gene

    (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 230):
    (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. 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)
    3. 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)
    4. 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)
    5. Structure of the gene encoding the human B lymphocyte differentiation antigen CD20 (B1). (PubMed id 2466899)1, 2 Tedder T.F.... Saito H. (1989)
    6. 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)
    7. 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)
    8. Transfection of the CD20 cell surface molecule into ectopic cell types generates a Ca2+ conductance found constitutively in B lymphocytes. (PubMed id 7684739)1, 9 Bubien J.K....Tedder T.F. (1993)
    9. 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, 9 Sar A....Demetrick D.J. (2008)
    10. Identification of CD20 C-terminal deletion mutations associated with loss of CD20 expression in non-Hodgkin's lymphoma. (PubMed id 19276251)1, 9 Terui Y....Hatake K. (2009)

    External Searches for MS4A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing MS4A1 gene

    (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

    Other Databases showing MS4A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MS4A1 gene

    (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

    Intellectual Property
    for MS4A1 gene

    (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:
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