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

Gene ID: 224132, updated on 2-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 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.

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