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    D6Wsu163e DNA segment, Chr 6, Wayne State University 163, expressed [ Mus musculus (house mouse) ]

    Gene ID: 28040, updated on 5-Mar-2024

    Summary

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    Official Symbol
    D6Wsu163eprovided by MGI
    Official Full Name
    DNA segment, Chr 6, Wayne State University 163, expressedprovided by MGI
    Primary source
    MGI:MGI:107893
    See related
    Ensembl:ENSMUSG00000030347 AllianceGenome:MGI:107893
    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
    C12orf4
    Summary
    Predicted to be involved in regulation of mast cell degranulation. Predicted to be active in cytoplasm. Is expressed in extraembryonic component. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human C12orf4 (chromosome 12 open reading frame 4). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 7.4), placenta adult (RPKM 6.8) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See D6Wsu163e in Genome Data Viewer
    Location:
    6 F3; 6 61.92 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (126916938..126952667)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (126939966..126975704)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene dual-specificity tyrosine phosphorylation regulated kinase 4 Neighboring gene RAD51 associated protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E688 Neighboring gene STARR-positive B cell enhancer ABC_E6491 Neighboring gene metaxin 1 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E8131 Neighboring gene predicted gene 43124 Neighboring gene STARR-seq mESC enhancer starr_17402 Neighboring gene fibroblast growth factor 6

    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. Interaction of Sox2 with RNA binding proteins in mouse embryonic stem cells. Samudyata, et al. Exp Cell Res, 2019 Aug 1. PMID 31077711, Free PMC Article
    2. Genome-wide mapping of unselected transcripts from extraembryonic tissue of 7.5-day mouse embryos reveals enrichment in the t-complex and under-representation on the X chromosome. Ko MS, et al. Hum Mol Genet, 1998 Nov. PMID 9811942
    3. High-throughput discovery of novel developmental phenotypes. Dickinson ME, et al. Nature, 2016 Sep 22. PMID 27626380, Free PMC Article
    4. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
    5. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article

    See all (17) 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)
    • Targeted (2) 
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    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 regulation of mast cell degranulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mast cell degranulation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    protein C12orf4 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_001410642.1 → NP_001397571.1  protein C12orf4 homolog isoform a

      Status: VALIDATED

      Source sequence(s)
      AC165085
      UniProtKB/Swiss-Prot
      Q3UVK4, Q91YN0

    2. NM_001410643.1 → NP_001397572.1  protein C12orf4 homolog isoform b

      Status: VALIDATED

      Source sequence(s)
      AC165085

    3. NM_001410644.1 → NP_001397573.1  protein C12orf4 homolog isoform b

      Status: VALIDATED

      Source sequence(s)
      AC165085

    4. NM_138594.4 → NP_613060.1  protein C12orf4 homolog isoform a

      See identical proteins and their annotated locations for NP_613060.1

      Status: VALIDATED

      Source sequence(s)
      AC165085
      Consensus CDS
      CCDS20560.1
      UniProtKB/Swiss-Prot
      Q3UVK4, Q91YN0
      Related
      ENSMUSP00000032497.4, ENSMUST00000032497.7
      Conserved Domains (1) summary
      pfam10154
      Location:41 → 546
      DUF2362; Uncharacterized conserved protein (DUF2362)

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      126916938..126952667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91YN0.1 GenPept UniProtKB/Swiss-Prot:Q91YN0

    Gene LinkOut

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

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