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    MS4A6E membrane spanning 4-domains A6E [ Homo sapiens (human) ]

    Gene ID: 245802, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MS4A6Eprovided by HGNC
    Official Full Name
    membrane spanning 4-domains A6Eprovided by HGNC
    Primary source
    HGNC:HGNC:14285
    See related
    Ensembl:ENSG00000166926 MIM:608402; AllianceGenome:HGNC:14285
    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
    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 and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 32.3) See more
    Orthologs
    all
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    Genomic context

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    See MS4A6E in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (60327255..60349072)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60278533..60300341)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60094728..60116545)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene membrane spanning 4-domains A4E Neighboring gene microRNA 6503 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3370 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 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 A7 Neighboring gene membrane spanning 4-domains A14

    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. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Naj AC, et al. Nat Genet, 2011 May. PMID 21460841, Free PMC Article
    2. Structural organization of the human MS4A gene cluster on Chromosome 11q12. Liang Y, et al. Immunogenetics, 2001 Jul. PMID 11486273
    3. Modulation of cytokine release and gene expression by the immunosuppressive domain of gp41 of HIV-1. Denner J, et al. PLoS One, 2013. PMID 23383108, Free PMC Article
    4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126832

    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
    		  

    General protein information

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    Preferred Names
    membrane-spanning 4-domains subfamily A member 6E
    Names
    membrane-spanning 4-domains, subfamily A, member 6E

    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_139249.4 → NP_640342.1  membrane-spanning 4-domains subfamily A member 6E

      See identical proteins and their annotated locations for NP_640342.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AP003127
      Consensus CDS
      CCDS7984.1
      UniProtKB/Swiss-Prot
      Q3MIL2, Q8NE56, Q96DS6, Q96PG4, Q96PG5
      UniProtKB/TrEMBL
      H0YD45
      Related
      ENSP00000507799.1, ENST00000684409.1
      Conserved Domains (1) summary
      pfam04103
      Location:50 → 143
      CD20; CD20-like family

    RNA

    1. NR_170614.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP003127

    2. NR_170615.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP003127

    3. NR_170616.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AP003127

    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
      60327255..60349072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      60278533..60300341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DS6.1 GenPept UniProtKB/Swiss-Prot:Q96DS6

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous