MS4A6A

Chr 11

membrane spanning 4-domains A6A

ENSG00000110077 UniProt: Q9H2W1 OMIM: 606548

This protein is a member of the membrane-spanning 4A family that may function in signal transduction as part of a multimeric receptor complex, with expression in hematopoietic cells and other tissues. The gene shows very low constraint against loss-of-function variants (pLI near zero, LOEUF 1.95), suggesting high tolerance to protein-truncating mutations. No established Mendelian diseases have been associated with MS4A6A mutations in pediatric populations.

OMIM ResearchSummary from RefSeq, UniProt

May be involved in signal transduction as a component of a multimeric receptor complex

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in MS4A6A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

454 rare PASS variants

Rare truncating (LoF)

1 in 1,100

77 rare PASS variants

Rare synonymous (reference)

1 in 350

140 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MS4A6A. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 230	1 in 1,900
South Asian	~43k	1 in 88	1 in 510
Remaining (unassigned)	~30k	1 in 150	1 in 1,000
European (Finnish)	~27k	1 in 810	1 in 4,400
Admixed American	~22k	1 in 160	1 in 470
African / African American	~21k	1 in 120	1 in 210
East Asian	~20k	1 in 130	1 in 470
Ashkenazi Jewish	~13k	1 in 1,100	1 in 520
Middle Eastern	~2,884	1 in 160	1 in 470

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓