Skip to content
GenoLensGenoLens

MS4A1

Chr 11q12.2

membrane spanning 4-domains A1

Aliases:
B1, Bp35, FMC7
MANE:
ENST00000345732.9
OMIM: 112210 ↗NCBI: 931 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • B-cell chronic lymphocytic leukemia

    0.63

  • diffuse large B-cell lymphoma

    0.62

  • follicular lymphoma

    0.62

  • rheumatoid arthritis

    0.61

  • non-Hodgkin lymphoma

    0.61

  • multiple sclerosis

    0.61

  • neoplasm

    0.59

  • acute lymphoblastic leukemia

    0.58

  • granulomatosis with polyangiitis

    0.58

  • relapsing-remitting multiple sclerosis

    0.57

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

B-lymphocyte antigen CD20

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 a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR (PubMed:12920111, PubMed:18474602, PubMed:7684739)

Diseases associated with MS4A1

Curated MONDO disease pages that list MS4A1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.