MS4A4A membrane spanning 4-domains A4A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MS4A4Aprovided by HGNC
Official Full Name: membrane spanning 4-domains A4Aprovided by HGNC
Primary source: HGNC:HGNC:13371
See related: Ensembl:ENSG00000110079 MIM:606547; AllianceGenome:HGNC:13371
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MS4A4; MS4A7; 4SPAN1; CD20L1; CD20-L1; HDCME31P
Summary: This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Expression: Broad expression in placenta (RPKM 28.4), gall bladder (RPKM 18.9) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (60280666..60308970)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (60231961..60260258)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (60048139..60076443)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The FcepsilonRIbeta homologue, MS4A4A, promotes FcepsilonRI signal transduction and store-operated Ca(2+) entry in human mast cells.
Title: The FcεRIβ homologue, MS4A4A, promotes FcεRI signal transduction and store-operated Ca(2+) entry in human mast cells.
MS4A4A is a tetraspan molecule selectively expressed in macrophages during differentiation and polarization, essential for dectin-1-dependent activation of natural killer cell-mediated resistance to metastasis.
Title: The macrophage tetraspan MS4A4A enhances dectin-1-dependent NK cell-mediated resistance to metastasis.
MS4A4A is expressed at the plasma membrane in monocytes but not in granulocytes or lymphocytes.
Title: MS4A4A: a novel cell surface marker for M2 macrophages and plasma cells.
MS4A4A expression is significantly upregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.
MS4A4 in human mast cells effects ligand-induced KIT endocytosis pathways and reduced receptor recycling to the cell surface, thus promoting KIT signaling in the endosomes while reducing that in the plasma membrane.
Title: The CD20 homologue MS4A4 directs trafficking of KIT toward clathrin-independent endocytosis pathways and thus regulates receptor signaling and recycling.
Single nucleotide polymorphisms in APOE-epsilon4, CLU and MS4A4A influence both Alzheimer disease risk and cerebrospinal fluid Amyloid-beta1-42 levels.
Title: Genetic loci associated with Alzheimer's disease and cerebrospinal fluid biomarkers in a Finnish case-control cohort.
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Title: Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane raft	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: membrane-spanning 4-domains subfamily A member 4A

Names: CD20 antigen-like 1; Fc epsilon receptor beta subunit homolog; epididymis secretory sperm binding protein; four-span transmembrane protein 1; membrane-spanning 4-domains, subfamily A, member 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001243266.2 → NP_001230195.1 membrane-spanning 4-domains subfamily A member 4A isoform 3

See identical proteins and their annotated locations for NP_001230195.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame coding exon compared to variant 1. This results in a shorter isoform (3) missing an internal protein segment compared to isoform 1.

Source sequence(s)

AP003127, AP003970

Consensus CDS

CCDS58135.1

UniProtKB/TrEMBL

A0A7P0T8A0

Related

ENSP00000434506.1, ENST00000532114.6

Conserved Domains (1) summary

pfam04103
Location:65 → 157

CD20; CD20-like family
NM_024021.4 → NP_076926.2 membrane-spanning 4-domains subfamily A member 4A isoform 2

See identical proteins and their annotated locations for NP_076926.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional exon at the 5' end compared to variant 1. This results in translation initiation from an in-frame downstream AUG, and an isoform (2) with a shorter N-terminus compared to isoform 1.

Source sequence(s)

AP003127, AP003970

UniProtKB/TrEMBL

A0A384MDW1, B2RA46

Related

ENSP00000505293.1, ENST00000680757.1

Conserved Domains (1) summary

pfam04103
Location:46 → 188

CD20; CD20-like family
NM_148975.3 → NP_683876.1 membrane-spanning 4-domains subfamily A member 4A isoform 1

See identical proteins and their annotated locations for NP_683876.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longest isoform (1).

Source sequence(s)

AP003127, AP003970

Consensus CDS

CCDS7982.1

UniProtKB/Swiss-Prot

Q8TEZ6, Q96JQ5, Q96PG7, Q9BY18, Q9H3V3, Q9P1S3

UniProtKB/TrEMBL

A8K7S4

Related

ENSP00000338648.4, ENST00000337908.5

Conserved Domains (1) summary

pfam04103
Location:65 → 207

CD20; CD20-like family