MS4A14

protein-coding

membrane spanning 4-domains A14, the group of Membrane spanning 4-domains

Gene summary

Predicted to be involved in cell surface receptor signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

MS4A16

MANE transcript

NM_032597.5

Inheritance

—

ClinVar variants

U:97B:6

Top phenotype

Essential tremor

gnomAD constraint

pLI —, LoF o/e 1.07

Max pathogenic AF

—

Genomic locus

chr11:60,378,530-60,417,756

External References & Databases

Ensembl (ENSG00000166928)

Transcript & Mutation Effects

hg38 • Region Span ~39.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MS4A14 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 97

not providedTotal: 1

Essential tremorTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032597.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar		1 clinvar	2
missense			94 clinvar	5 clinvar		99
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	97	5	1	103

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 19 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032597.5	RefSeq	NP_115986.3	5	MANE Select
ENST00000300187.11	Ensembl	ENSP00000300187.6	5	MANE Select
NM_001079692.3	RefSeq	NP_001073160.1	4	Standard
NM_001261827.2	RefSeq	NP_001248756.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000531783
Coding exons: 6
Length: 39159
Individuals with no LoFs: 125683
Homozygous LoFs: 0
Heterozygous LoFs: 35
Defined: 125718
p: 0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0583	354	351	1.01	0.0000166	4659
Missense (PolyPhen)		64	61.5	1.0406		935
Synonymous	-1.56	161	138	1.17	0.00000704	1362
Loss of Function	-0.198	9	8.38	1.07	3.52e-7	115

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.00056	0.00056	rare
Other	0.00033	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in signal transduction as a component of a multimeric receptor complex. {ECO:0000250}.;

Recessive Scores

pRec: 0.0428

Intolerance Scores

LoFtool: 0.948
RVIS EVS: 1.74
RVIS percentile EVS: 96.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.000797

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium