MS4A8

membrane spanning 4-domains A8, the group of Membrane spanning 4-domains

Basic information

Region (hg38): 11:60699585-60715807

Previous symbols: [ "MS4A8B" ]

Links

ENSG00000166959 ∙ NCBI:83661 ∙ OMIM:606549 ∙ HGNC:13380 ∙ Uniprot:Q9BY19 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MS4A8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MS4A8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	0

Variants in MS4A8

This is a list of pathogenic ClinVar variants found in the MS4A8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-60700872-G-T		not specified	Uncertain significance (May 03, 2023)
11-60700919-A-C		not specified	Uncertain significance (Oct 02, 2023)
11-60700922-A-G		not specified	Uncertain significance (Oct 26, 2022)
11-60703423-A-G		not specified	Uncertain significance (Apr 24, 2023)
11-60703439-T-G		not specified	Uncertain significance (Jan 03, 2024)
11-60703467-C-G		not specified	Uncertain significance (May 08, 2023)
11-60703485-C-A		not specified	Uncertain significance (Jul 14, 2023)
11-60706994-A-G		not specified	Uncertain significance (Sep 30, 2021)
11-60707001-G-A		not specified	Uncertain significance (Jul 28, 2021)
11-60707012-G-A		not specified	Uncertain significance (Aug 16, 2022)
11-60708677-G-A		not specified	Uncertain significance (May 26, 2024)
11-60708734-C-G		not specified	Uncertain significance (Apr 24, 2023)
11-60708735-C-G		not specified	Uncertain significance (Dec 01, 2022)
11-60708755-G-A		not specified	Likely benign (Jan 08, 2024)
11-60708757-C-G		not specified	Uncertain significance (May 04, 2022)
11-60715069-G-C		not specified	Uncertain significance (Jul 06, 2022)
11-60715087-G-C		not specified	Uncertain significance (May 05, 2023)
11-60715121-G-C		not specified	Uncertain significance (Nov 10, 2022)
11-60715133-A-G		not specified	Uncertain significance (Apr 11, 2023)
11-60715319-A-G		not specified	Likely benign (Sep 20, 2023)
11-60715334-T-C		not specified	Uncertain significance (Oct 20, 2023)
11-60715358-C-A		not specified	Uncertain significance (Dec 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MS4A8	protein_coding	protein_coding	ENST00000300226	6	16238

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000248	0.531	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.692	120	143	0.837	0.00000789	1601
Missense in Polyphen		29	36.188	0.80138		447
Synonymous	-0.825	72	63.6	1.13	0.00000436	527
Loss of Function	0.630	8	10.2	0.787	4.31e-7	122

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000447	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in signal transduction as a component of a multimeric receptor complex.

Recessive Scores

• pRec: 0.0826

Intolerance Scores

• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.0828
• hipred: N
• hipred_score: 0.146
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ms4a8a

Gene ontology

• Cellular component: integral component of membrane