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    TMEM47 transmembrane protein 47 [ Homo sapiens (human) ]

    Gene ID: 83604, updated on 23-May-2018

    Summary

    Official Symbol
    TMEM47provided by HGNC
    Official Full Name
    transmembrane protein 47provided by HGNC
    Primary source
    HGNC:HGNC:18515
    See related
    Ensembl:ENSG00000147027 MIM:300698; Vega:OTTHUMG00000021343
    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
    BCMP1; VAB-9; TM4SF10
    Summary
    This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 31.0), urinary bladder (RPKM 27.6) and 23 other tissues See more
    Orthologs

    Genomic context

    See TMEM47 in Genome Data Viewer
    Location:
    Xp21.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (34627064..34657288, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (34645181..34675405, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985674 Neighboring gene serine and arginine rich splicing factor 2 pseudogene Neighboring gene family with sequence similarity 47 member B Neighboring gene MAGE family member B18 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of brain lesion distribution in multiple sclerosis.
    NHGRI GWA Catalog

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ18096, MGC32949, DKFZp564E153, DKFZp761J17121

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    adherens junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    transmembrane protein 47
    Names
    brain cell membrane protein 1
    transmembrane 4 superfamily member 10

    NCBI Reference Sequences (RefSeq)

    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_031442.3NP_113630.1  transmembrane protein 47

      See identical proteins and their annotated locations for NP_113630.1

      Status: REVIEWED

      Source sequence(s)
      AL596285, BC039242, CX788638
      Consensus CDS
      CCDS14235.1
      UniProtKB/Swiss-Prot
      Q9BQJ4
      UniProtKB/TrEMBL
      A0A024RBY7
      Related
      ENSP00000275954.3, OTTHUMP00000023130, ENST00000275954.3, OTTHUMT00000056209
      Conserved Domains (1) summary
      cl21598
      Location:22134
      PMP22_Claudin; PMP-22/EMP/MP20/Claudin family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      34627064..34657288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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