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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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