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    Slc49a4 solute carrier family 49 member 4 [ Mus musculus (house mouse) ]

    Gene ID: 224132, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Slc49a4provided by MGI
    Official Full Name
    solute carrier family 49 member 4provided by MGI
    Primary source
    MGI:MGI:2387188
    See related
    Ensembl:ENSMUSG00000022848 AllianceGenome:MGI:2387188
    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
    RCC4; Dirc2
    Summary
    Predicted to be involved in pyridoxine transport. Predicted to be located in lysosomal membrane. Predicted to be active in intracellular membrane-bounded organelle and membrane. Human ortholog(s) of this gene implicated in renal cell carcinoma. Orthologous to human SLC49A4 (solute carrier family 49 member 4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 15.8), ovary adult (RPKM 15.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc49a4 in Genome Data Viewer
    Location:
    16 B3; 16 25.43 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (35514432..35589740, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (35694062..35769370, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 1600019K03 gene Neighboring gene sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B Neighboring gene VISTA enhancer mm1471 Neighboring gene 40S ribosomal protein S21 pseudogene Neighboring gene predicted gene, 25967 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:35747524-35747731 Neighboring gene Hspb associated protein 1 Neighboring gene STARR-seq mESC enhancer starr_40745 Neighboring gene STARR-positive B cell enhancer mm9_chr16:35817422-35817723 Neighboring gene STARR-seq mESC enhancer starr_40746 Neighboring gene predicted gene, 26838 Neighboring gene STARR-seq mESC enhancer starr_40747 Neighboring gene poly (ADP-ribose) polymerase family, member 14

    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. Tagging genes with cassette-exchange sites. Cobellis G, et al. Nucleic Acids Res, 2005 Mar 1. PMID 15741177, Free PMC Article
    2. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249
    3. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    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 (20) 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)
    • Endonuclease-mediated (1) 
    • Gene trapped (1) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC47126

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in pyridoxine transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in pyridoxine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 49 member 4
    Names
    disrupted in renal carcinoma 2
    disrupted in renal carcinoma protein 2 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_153550.4 → NP_705778.1  solute carrier family 49 member 4

      See identical proteins and their annotated locations for NP_705778.1

      Status: VALIDATED

      Source sequence(s)
      AC129574, AC154653
      Consensus CDS
      CCDS28141.1
      UniProtKB/Swiss-Prot
      Q8BFQ6
      Related
      ENSMUSP00000023554.9, ENSMUST00000023554.9
      Conserved Domains (2) summary
      cd06174
      Location:66 → 449
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:69 → 425
      MFS_1; Major Facilitator Superfamily

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      35514432..35589740 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BFQ6.1 GenPept UniProtKB/Swiss-Prot:Q8BFQ6

    Gene LinkOut

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

    Chemical Information
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