MS4A1 (membrane spanning 4-domains A1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 931
Gene name Membrane spanning 4-domains A1
Gene symbol MS4A1
Synonyms (NCBI Gene)
B1Bp35CD20CVID5FMC7LEU-16S7
Chromosome 11
Chromosome location 11q12.2
Summary 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
miRNA miRNA information provided by mirtarbase database.
43
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT719255 hsa-miR-3065-3p HITS-CLIP 19536157
MIRT719254 hsa-miR-383-3p HITS-CLIP 19536157
MIRT719253 hsa-miR-3607-5p HITS-CLIP 19536157
MIRT719252 hsa-miR-6787-3p HITS-CLIP 19536157
MIRT719251 hsa-miR-3190-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
IRF4 Unknown 19769942
SPI1 Unknown 11226004;15892171;19769942
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002115 Process Store-operated calcium entry IMP 12920111
GO:0005154 Function Epidermal growth factor receptor binding IEA
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005615 Component Extracellular space HDA 22664934
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
112210 7315 ENSG00000156738
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11836
Protein 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)
Protein function B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:12920111, PubMed:3925015, PubMed:7684739). Functions as
PDB 2OSL , 3BKY , 3PP4 , 6VJA , 6Y90 , 6Y92 , 6Y97 , 6Y9A , 8VGN , 8VGO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04103 CD20 51 → 216 CD20-like family Family
Tissue specificity TISSUE SPECIFICITY: Expressed on B-cells.
Sequence 
MTTPRNSVNGTFPAEPMKGPIAMQSGPKPLFRRMSSLVGPTQSFFMRESKTLGAVQIMNG
LFHIALGGLLMIPAGIYAPICVTVWYPLWGGIMYIISGSLLAATEKNSRKCLVKGKMIMN
SLSLFAAISGMILSIMDILNIKISHFLKMESLNFIRAHTPYINIYNCEPANPSEKNSPST
QYCYSIQSLFLGILSVMLIFAFFQELVIAGIVENEWKRTCSRPKSNIVLLSAEEKKEQTI
EIKEEVVGLTETSSQPKNEEDIEIIPIQEEEEEETETNFPEPPQDQESSPIENDSSP
Sequence length 297
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Hematopoietic cell lineage  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency, common variable, 5 Uncertain significance; no classifications from unflagged records; Benign rs201245387, rs2135198311, rs201410977, rs2495394538, rs2495405996, rs2070770, rs267603055, rs150061756, rs146626926 RCV002476571
RCV005626522
RCV003134365
RCV003225844
RCV000019279
RCV000757469
RCV000768274
RCV005231964
RCV001001012
MS4A1-related disorder Benign; Likely benign rs146194368, rs202117565, rs200077365, rs199815651 RCV003913643
RCV003936545
RCV003921606
RCV003939686
Show/Hide Text Mining Associations (101)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 40486872
Alzheimer Disease Associate 22691495
Amyotrophic Lateral Sclerosis Stimulate 12677453
Asthma Associate 10212104, 10427478, 23160057, 32638994, 7580438
Atherosclerosis Associate 10074478
Bernard Soulier Syndrome Associate 25529050
Blood Platelet Disorders Associate 25529050
Breast Neoplasms Associate 15987470, 35091527
Breast Neoplasms Inhibit 37684436
Brugada Syndrome Associate 18464934