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    Tmem248 transmembrane protein 248 [ Mus musculus (house mouse) ]

    Gene ID: 71667, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Tmem248provided by MGI
    Official Full Name
    transmembrane protein 248provided by MGI
    Primary source
    MGI:MGI:1918917
    See related
    Ensembl:ENSMUSG00000053094 AllianceGenome:MGI:1918917
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    0610007L01Rik; A930023A16Rik; G430067H08Rik
    Summary
    Predicted to be located in membrane. Predicted to be integral component of membrane. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and mesenteric adipose tissue. Orthologous to human TMEM248 (transmembrane protein 248). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 24.3), adrenal adult (RPKM 21.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 G1.3; 5 68.91 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (130248585..130272606)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (130219744..130243765)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene RAB guanine nucleotide exchange factor (GEF) 1 Neighboring gene NADH:ubiquinone oxidoreductase subunit A12, pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10356 Neighboring gene STARR-seq mESC enhancer starr_14472 Neighboring gene predicted gene 15921 Neighboring gene STARR-positive B cell enhancer ABC_E11304 Neighboring gene STARR-positive B cell enhancer ABC_E11728 Neighboring gene predicted gene 6598 Neighboring gene STARR-positive B cell enhancer mm9_chr5:130730118-130730418 Neighboring gene STARR-positive B cell enhancer ABC_E234 Neighboring gene STARR-positive B cell enhancer ABC_E279 Neighboring gene SBDS ribosome maturation factor Neighboring gene tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) Neighboring gene STARR-seq mESC enhancer starr_14473

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression. West DB, et al. PLoS Genet, 2016 Feb. PMID 26839965, Free PMC Article
    2. Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. Taniwaki T, et al. Dev Growth Differ, 2005 Apr. PMID 15840001
    3. Exchangeable gene trap using the Cre/mutated lox system. Araki K, et al. Cell Mol Biol (Noisy-le-grand), 1999 Jul. PMID 10512203
    4. Identification of transcripts with enriched expression in the developing and adult pancreas. Hoffman BG, et al. Genome Biol, 2008. PMID 18554416, Free PMC Article
    5. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (2) 
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 248
    Names
    UPF0458 protein C7orf42 homolog

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001081394.1 → NP_001074863.1  transmembrane protein 248

      See identical proteins and their annotated locations for NP_001074863.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC113029
      Consensus CDS
      CCDS39295.1
      UniProtKB/Swiss-Prot
      Q3TBN1, Q8CIB2, Q9DD07
      Related
      ENSMUSP00000067501.7, ENSMUST00000065329.13
      Conserved Domains (1) summary
      pfam14940
      Location:10 → 256
      TMEM219; Transmembrane 219

    2. NM_027854.1 → NP_082130.1  transmembrane protein 248

      See identical proteins and their annotated locations for NP_082130.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC113029, AK142176, CN526906
      Consensus CDS
      CCDS39295.1
      UniProtKB/Swiss-Prot
      Q3TBN1, Q8CIB2, Q9DD07
      Related
      ENSMUSP00000106929.5, ENSMUST00000111298.6
      Conserved Domains (1) summary
      pfam14940
      Location:10 → 256
      TMEM219; Transmembrane 219

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      130248585..130272606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240907.4 → XP_011239209.1  transmembrane protein 248 isoform X1

      See identical proteins and their annotated locations for XP_011239209.1

      UniProtKB/Swiss-Prot
      Q3TBN1, Q8CIB2, Q9DD07
      Conserved Domains (1) summary
      pfam14940
      Location:10 → 256
      TMEM219; Transmembrane 219

    2. XM_030254810.1 → XP_030110670.1  transmembrane protein 248 isoform X1

      UniProtKB/Swiss-Prot
      Q3TBN1, Q8CIB2, Q9DD07
      Conserved Domains (1) summary
      pfam14940
      Location:10 → 256
      TMEM219; Transmembrane 219

    3. XM_030254811.2 → XP_030110671.1  transmembrane protein 248 isoform X1

      UniProtKB/Swiss-Prot
      Q3TBN1, Q8CIB2, Q9DD07
      Conserved Domains (1) summary
      pfam14940
      Location:10 → 256
      TMEM219; Transmembrane 219
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3TBN1.1 GenPept UniProtKB/Swiss-Prot:Q3TBN1

    Gene LinkOut

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

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