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MS4A7 membrane spanning 4-domains A7 [ Homo sapiens (human) ]

Gene ID: 58475, updated on 17-Mar-2024

Summary

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Official Symbol
MS4A7provided by HGNC
Official Full Name
membrane spanning 4-domains A7provided by HGNC
Primary source
HGNC:HGNC:13378
See related
Ensembl:ENSG00000166927 MIM:606502; AllianceGenome:HGNC:13378
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
CFFM4; MS4A8; 4SPAN2; CD20L4
Summary
This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 76.0), lung (RPKM 24.9) and 15 other tissues See more
Orthologs
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Genomic context

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See MS4A7 in Genome Data Viewer
Location:
11q12.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60378532..60395948)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60329793..60347213)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60146005..60163421)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene membrane spanning 4-domains A4A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3371 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:60086754-60087254 Neighboring gene Sharpr-MPRA regulatory region 5454 Neighboring gene membrane spanning 4-domains A6E Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4766 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:60135080-60135586 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4767 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4769 Neighboring gene membrane spanning 4-domains A14 Neighboring gene membrane spanning 4-domains A5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. The short isoform of MS4A7 is a novel player in glioblastoma microenvironment, M2 macrophage polarization, and tumor progression. Ni B, et al. J Neuroinflammation, 2023 Mar 21. PMID 36944954, Free PMC Article
  2. CFFM4: a new member of the CD20/FcepsilonRIbeta family. Gingras MC, et al. Immunogenetics, 2001 Aug. PMID 11685457
  3. Expression of MS4A and TMEM176 Genes in Human B Lymphocytes. Zuccolo J, et al. Front Immunol, 2013. PMID 23874341, Free PMC Article
  4. Identification of a new multigene four-transmembrane family (MS4A) related to CD20, HTm4 and beta subunit of the high-affinity IgE receptor. Ishibashi K, et al. Gene, 2001 Feb 7. PMID 11245982
  5. Structural organization of the human MS4A gene cluster on Chromosome 11q12. Liang Y, et al. Immunogenetics, 2001 Jul. PMID 11486273

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hepatic danger signaling triggers TREM2[+] macrophage induction and drives steatohepatitis via MS4A7-dependent inflammasome activation.
    Title: Hepatic danger signaling triggers TREM2(+) macrophage induction and drives steatohepatitis via MS4A7-dependent inflammasome activation.
  2. The short isoform of MS4A7 is a novel player in glioblastoma microenvironment, M2 macrophage polarization, and tumor progression.
    Title: The short isoform of MS4A7 is a novel player in glioblastoma microenvironment, M2 macrophage polarization, and tumor progression.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: MS4A14

Homology

Clone Names

  • MGC22368

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell surface receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
membrane-spanning 4-domains subfamily A member 7
Names
CD20 antigen-like 4
CD20/Fc-epsilon-RI-beta family member 4
four-span transmembrane protein 2
high affinity immunoglobulin epsilon receptor beta subunit

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)

  1. NM_021201.5 → NP_067024.1  membrane-spanning 4-domains subfamily A member 7 isoform 1

    See identical proteins and their annotated locations for NP_067024.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. It encodes the longer isoform (1).
    Source sequence(s)
    AK075106, AV685115, AV690480, BC020673, CA449361, CD518120
    Consensus CDS
    CCDS7985.1
    UniProtKB/Swiss-Prot
    A6NP53, Q6IAG8, Q9GZW8
    Related
    ENSP00000300184.3, ENST00000300184.8
    Conserved Domains (1) summary
    pfam04103
    Location:47 → 207
    CD20; CD20-like family

  2. NM_206938.2 → NP_996821.1  membrane-spanning 4-domains subfamily A member 7 isoform 2

    See identical proteins and their annotated locations for NP_996821.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame coding exon compared to variant 1. The resulting isoform (2) lacks an internal region, as compared to isoform 1. Variants 2 and 4 encode the same isoform (2).
    Source sequence(s)
    AK075106, AV685115, AV690480, CA449361, CD518120
    Consensus CDS
    CCDS7986.1
    UniProtKB/TrEMBL
    E9PIV6
    Related
    ENSP00000350983.1, ENST00000358246.5
    Conserved Domains (1) summary
    pfam04103
    Location:50 → 162
    CD20; CD20-like family

  3. NM_206939.2 → NP_996822.1  membrane-spanning 4-domains subfamily A member 7 isoform 1

    See identical proteins and their annotated locations for NP_996822.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternative splice site for the first exon compared to variant 1. Both variants 3 and 1 encode the same isoform (1).
    Source sequence(s)
    AK075106, AV685115, AV690480, CA449361, CD518120, CD706728
    Consensus CDS
    CCDS7985.1
    UniProtKB/Swiss-Prot
    A6NP53, Q6IAG8, Q9GZW8
    Conserved Domains (1) summary
    pfam04103
    Location:47 → 207
    CD20; CD20-like family

  4. NM_206940.2 → NP_996823.1  membrane-spanning 4-domains subfamily A member 7 isoform 2

    See identical proteins and their annotated locations for NP_996823.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site for the first exon and lacks an in-frame coding exon compared to variant 1. The resulting isoform (2) lacks an internal region, as compared to isoform 1. Variants 4 and 2 encode the same isoform (2).
    Source sequence(s)
    AK075106, AV685115, AV690480, CA449361, CD518120, CD706728
    Consensus CDS
    CCDS7986.1
    UniProtKB/TrEMBL
    E9PIV6
    Related
    ENSP00000434637.1, ENST00000534016.5
    Conserved Domains (1) summary
    pfam04103
    Location:50 → 162
    CD20; CD20-like family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    60378532..60395948
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    60329793..60347213
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZW8.1 GenPept UniProtKB/Swiss-Prot:Q9GZW8

Gene LinkOut

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