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    Tmem247 transmembrane protein 247 [ Mus musculus (house mouse) ]

    Gene ID: 78469, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Tmem247provided by MGI
    Official Full Name
    transmembrane protein 247provided by MGI
    Primary source
    MGI:MGI:1925719
    See related
    Ensembl:ENSMUSG00000037689 AllianceGenome:MGI:1925719
    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
    1700090G07Rik
    Summary
    Located in endoplasmic reticulum. Orthologous to human TMEM247 (transmembrane protein 247). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis adult (RPKM 229.1) See more
    Orthologs
    human all
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    Genomic context

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    Location:
    17 E4; 17 56.9 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (87224776..87229795)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (86917348..86922367)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr17:87102943-87103244 Neighboring gene aldo-keto reductase family 1, member B8 pseudogene Neighboring gene STARR-seq mESC enhancer starr_43489 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:87131580-87131689 Neighboring gene STARR-seq mESC enhancer starr_43493 Neighboring gene STARR-seq mESC enhancer starr_43494 Neighboring gene endothelial PAS domain protein 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:87201221-87201489 Neighboring gene STARR-seq mESC enhancer starr_43496 Neighboring gene STARR-positive B cell enhancer ABC_E11652 Neighboring gene STARR-positive B cell enhancer ABC_E10976 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:87357353-87357462 Neighboring gene ATPase, H+ transporting, lysosomal V1 subunit E2 Neighboring gene predicted gene, 57642 Neighboring gene ras homolog family member Q

    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. Identification and integrative analysis of 28 novel genes specifically expressed and developmentally regulated in murine spermatogenic cells. Hong S, et al. J Biol Chem, 2005 Mar 4. PMID 15613475
    2. Integrative characterization of germ cell-specific genes from mouse spermatocyte UniGene library. Choi E, et al. BMC Genomics, 2007 Jul 28. PMID 17662146, Free PMC Article
    3. Genome engineering uncovers 54 evolutionarily conserved and testis-enriched genes that are not required for male fertility in mice. Miyata H, et al. Proc Natl Acad Sci U S A, 2016 Jul 12. PMID 27357688, Free PMC Article
    4. Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Zambrowicz BP, et al. Proc Natl Acad Sci U S A, 2003 Nov 25. PMID 14610273, Free PMC Article
    5. Antisense transcription in the mammalian transcriptome. Katayama S, et al. Science, 2005 Sep 2. PMID 16141073

    See all (13) 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)

    General gene information

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    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 endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 247
    Names
    transmembrane protein ENSP00000343375 homolog

    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_001277980.1 → NP_001264909.1  transmembrane protein 247 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
      Source sequence(s)
      AC154492, BC100486
      UniProtKB/Swiss-Prot
      Q497K7
      Conserved Domains (1) summary
      pfam15444
      Location:1 → 212
      TMEM247; Transmembrane protein 247

    2. NM_030104.1 → NP_084380.1  transmembrane protein 247 isoform 1

      See identical proteins and their annotated locations for NP_084380.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC154492, BC100486
      Consensus CDS
      CCDS79579.1
      UniProtKB/Swiss-Prot
      Q497K7, Q8BVQ7, Q9CU05
      Related
      ENSMUSP00000039338.6, ENSMUST00000042172.7
      Conserved Domains (1) summary
      pfam15444
      Location:1 → 211
      TMEM247; Transmembrane protein 247

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      87224776..87229795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q497K7.2 GenPept UniProtKB/Swiss-Prot:Q497K7

    Gene LinkOut

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

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