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    MS4A18 membrane spanning 4-domains A18 [ Homo sapiens (human) ]

    Gene ID: 728588, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MS4A18provided by HGNC
    Official Full Name
    membrane spanning 4-domains A18provided by HGNC
    Primary source
    HGNC:HGNC:37636
    See related
    Ensembl:ENSG00000214782 AllianceGenome:HGNC:37636
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in duodenum (RPKM 4.4) and small intestine (RPKM 0.9) See more
    Orthologs
    mouse all
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    Genomic context

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    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 (60724720..60745028)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (60675883..60696189)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (60492193..60512501)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369321 Neighboring gene long intergenic non-protein coding RNA 301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4774 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_21611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60468129-60468630 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60468631-60469130 Neighboring gene membrane spanning 4-domains A8 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:60520950-60521161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4777 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60541913-60542544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60542545-60543174 Neighboring gene membrane spanning 4-domains A15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:60543175-60543804 Neighboring gene uncharacterized LOC105369322 Neighboring gene membrane spanning 4-domains A10

    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. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    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
    		  

    General protein information

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    Preferred Names
    membrane-spanning 4-domains subfamily A member 18

    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_001354471.3 → NP_001341400.1  membrane-spanning 4-domains subfamily A member 18

      Status: VALIDATED

      Source sequence(s)
      AP004243
      UniProtKB/Swiss-Prot
      H0YCH9, Q3C1V0
      Related
      ENSP00000431607.3, ENST00000529108.6
      Conserved Domains (2) summary
      pfam04103
      Location:155 → 244
      CD20; CD20-like family
      cl00232
      Location:287 → 366
      Ribosomal_L19e; Ribosomal protein L19e. L19e is found in the large ribosomal subunit of eukaryotes and archaea. L19e is distinct from the ribosomal subunit L19, which is found in prokaryotes. It consists of two small globular domains connected by an extended segment. ...

    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
      60724720..60745028
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      60675883..60696189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001310141.1: Suppressed sequence

      Description
      NM_001310141.1: This RefSeq was removed because there is currently insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3C1V0.3 GenPept UniProtKB/Swiss-Prot:Q3C1V0

    Gene LinkOut

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

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