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    MS4A4E membrane-spanning 4-domains, subfamily A, member 4E [ Homo sapiens ]

    Gene ID: 643680, updated on 11-May-2012
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    Summary

    Official Symbol
    MS4A4Eprovided by HGNC
    Official Full Name
    membrane-spanning 4-domains, subfamily A, member 4Eprovided by HGNC
    Primary source
    HGNC:14284
    See related
    Ensembl:ENSG00000214787; MIM:608401; Vega:OTTHUMG00000167354
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Most MS4A genes, including MS4A4E, encode proteins with at least 4 potential transmembrane domains and N- and C-terminal cytoplasmic domains encoded by distinct exons.[supplied by OMIM, Apr 2004]
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    Genomic context

    Location :
    11q12.2
    Sequence :
    Chromosome: 11; NC_000011.9 (59968726..60010561, complement)
    See MS4A4E in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene membrane-spanning 4-domains, subfamily A, member 2 Neighboring gene membrane-spanning 4-domains, subfamily A, member 6A Neighboring gene membrane-spanning 4-domains, subfamily A, member 4A Neighboring gene membrane-spanning 4-domains, subfamily A, member 6E

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Hollingworth P, et al. Nat Genet, 2011 May. PMID 21460840.
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    3. Structural organization of the human MS4A gene cluster on Chromosome 11q12. Liang Y, et al. Immunogenetics, 2001 Jul. PMID 11486273.

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. ABCA7 and the MS4A6A/MS4A4E gene cluster are new Alzheimer's disease susceptibility loci.
      Title: Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
    2. 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
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.

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    General gene information

    Markers

    Genotypes

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Names
    membrane-spanning 4-domains, subfamily A, member 4E
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    NCBI Reference Sequences (RefSeq)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9

      Range
      59968726..60010561, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_003119183.1 → XP_003119231.1  

      Related
      ENSP00000436446, OTTHUMP00000235782, ENST00000528394, OTTHUMT00000394290
      Conserved Domains (1) summary
      pfam04103
      Location:36 – 79
      Blast Score: 75
      CD20; CD20-like family

    Alternate HuRef

    Genomic

    1. AC_000143.1

      Range
      56315550..56357400, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_003119500.1 → XP_003119548.1  

      Conserved Domains (1) summary
      pfam04103
      Location:36 – 79
      Blast Score: 75
      CD20; CD20-like family
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF354936.1 AAL07363.1
    genomic AP003970.3 (31570..73405) None
    mRNA AB231725.1 BAE46883.1
    mRNA AB231726.1 BAE46884.1
    mRNA AB231727.1 BAE46885.1
    mRNA AB231728.1 BAE46886.1
    mRNA AB231729.1 None
    mRNA AB231730.1 None
    mRNA AB231731.1 None
    mRNA AK300102.1 BAG61901.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96PG1.2 GenPept UniProtKB/Swiss-Prot:Q96PG1
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    Additional Links

    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
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

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      General information

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