MS4A1 (membrane spanning 4-domains A1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
931
Gene name Gene Name - the full gene name approved by the HGNC.
Membrane spanning 4-domains A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MS4A1
Synonyms (NCBI Gene) Gene synonyms aliases
B1, Bp35, CD20, CVID5, FMC7, LEU-16, S7
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.2
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
IRF4 Unknown 19769942
SPI1 Unknown 11226004;15892171;19769942
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(29)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
112210 7315 ENSG00000156738
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Common Variable Immunodeficiency common variable immunodeficiency N/A N/A GenCC
Common variable immunodeficiency immunodeficiency, common variable, 5 N/A N/A GenCC, ClinVar
Show/Hide Text Mining Associations (101)
Associations from Text Mining Disease 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