• Gene id: 931

Gene Summary

• Gene Symbol: MS4A1   Gene   UCSC   Ensembl
• Aliases: B1, Bp35, CD20, CVID5, LEU-16, MS4A2, S7
• Gene name: membrane spanning 4-domains A1
• Alternate names: B-lymphocyte antigen CD20, B-lymphocyte cell-surface antigen B1, CD20 antigen, CD20 receptor, leukocyte surface antigen Leu-16, membrane-spanning 4-domains, subfamily A, member 1,
• Gene location: 11q12.2 (60455808: 60470751)     Exons: 8     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 112210

Protein Summary

• Protein general information: P11836  
  • Name: B lymphocyte antigen CD20 (B lymphocyte surface antigen B1) (Bp35) (Leukocyte surface antigen Leu 16) (Membrane spanning 4 domains subfamily A member 1) (CD antigen CD20)
  • Length: 297  
  • Mass: 33077
  • Tissue specificity: Expressed on B-cells.
• Sequence:

  MTTPRNSVNGTFPAEPMKGPIAMQSGPKPLFRRMSSLVGPTQSFFMRESKTLGAVQIMNGLFHIALGGLLMIPAG
  IYAPICVTVWYPLWGGIMYIISGSLLAATEKNSRKCLVKGKMIMNSLSLFAAISGMILSIMDILNIKISHFLKME
  SLNFIRAHTPYINIYNCEPANPSEKNSPSTQYCYSIQSLFLGILSVMLIFAFFQELVIAGIVENEWKRTCSRPKS
  NIVLLSAEEKKEQTIEIKEEVVGLTETSSQPKNEEDIEIIPIQEEEEEETETNFPEPPQDQESSPIENDSSP

• Structural information:
  • Interpro: IPR007237  IPR030417  IPR030418  
  • PDB: 1S8B 2OSL 3BKY 3PP4
  • PDBsum: 1S8B 2OSL 3BKY 3PP4
  • STRING: ENSP00000314620
• Other Databases: GeneCards:  MS4A1  Malacards:  MS4A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050853	B cell receptor signaling pathway	IDA	biological process
GO:1902656	calcium ion import into cytosol	IDA	biological process
GO:0030183	B cell differentiation	IDA	biological process
GO:0019865	immunoglobulin binding	IDA	molecular function
GO:0051262	protein tetramerization	IDA	biological process
GO:0044853	plasma membrane raft	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0051262	protein tetramerization	IDA	biological process
GO:0042113	B cell activation	IDA	biological process
GO:0002115	store-operated calcium entry	IMP	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042113	B cell activation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902656	calcium ion import into cytosol	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0005154	epidermal growth factor receptor binding	IEA	molecular function
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006959	humoral immune response	NAS	biological process
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042100	B cell proliferation	NAS	biological process
GO:0023026	MHC class II protein complex binding	HDA	molecular function
GO:0005887	integral component of plasma membrane	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Common variable immunodeficiency	KEGG:H00088
Common variable immunodeficiency	KEGG:H00088
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R