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    Flvcr2 feline leukemia virus subgroup C cellular receptor 2 [ Mus musculus (house mouse) ]

    Gene ID: 217721, updated on 9-May-2024

    Summary

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    Official Symbol
    Flvcr2provided by MGI
    Official Full Name
    feline leukemia virus subgroup C cellular receptor 2provided by MGI
    Primary source
    MGI:MGI:2384974
    See related
    Ensembl:ENSMUSG00000034258 AllianceGenome:MGI:2384974
    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
    CCT; Mfsd7c
    Summary
    Predicted to enable heme binding activity and heme transmembrane transporter activity. Predicted to be involved in heme export. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Is expressed in several structures, including central nervous system and yolk sac. Used to study proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Human ortholog(s) of this gene implicated in proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Orthologous to human FLVCR2 (FLVCR heme transporter 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis adult (RPKM 19.4), placenta adult (RPKM 12.9) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    12 D2; 12 39.8 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (85793313..85860359)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (85746539..85813586)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:87027519-87027764 Neighboring gene STARR-positive B cell enhancer ABC_E10767 Neighboring gene basic leucine zipper transcription factor, ATF-like Neighboring gene nuclear encoded rRNA 5S 64 Neighboring gene STARR-seq mESC enhancer starr_32787 Neighboring gene STARR-seq mESC enhancer starr_32788 Neighboring gene predicted gene, 40478 Neighboring gene STARR-seq mESC enhancer starr_32789 Neighboring gene ergosterol biosynthesis 28 Neighboring gene tubulin tyrosine ligase-like family, member 5 Neighboring gene predicted gene, 51990

    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. Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Meyer E, et al. Am J Hum Genet, 2010 Mar 12. PMID 20206334, Free PMC Article
    2. Novel hexad repeats conserved in a putative transporter with restricted expression in cell types associated with growth, calcium exchange and homeostasis. Brasier G, et al. Exp Cell Res, 2004 Feb 1. PMID 14729055
    3. MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme. Li Y, et al. Nat Commun, 2020 Sep 24. PMID 32973183, Free PMC Article
    4. Lack of Flvcr2 impairs brain angiogenesis without affecting the blood-brain barrier. Santander N, et al. J Clin Invest, 2020 Aug 3. PMID 32369453, Free PMC Article
    5. Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome. Kalailingam P, et al. J Clin Invest, 2020 Aug 3. PMID 32369449, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MFSD7c functions as a transporter of choline at the blood-brain barrier.
      Title: MFSD7c functions as a transporter of choline at the blood-brain barrier.
    2. Lack of Flvcr2 impairs brain angiogenesis without affecting the blood-brain barrier.
      Title: Lack of Flvcr2 impairs brain angiogenesis without affecting the blood-brain barrier.
    3. Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
      Title: Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
    4. MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.
      Title: MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Targeted (6)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC19050

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables heme transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heme transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within endothelial tip cell fate specification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heme export IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sprouting angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    heme transporter FLVCR2
    Names
    calcium-chelate transporter
    feline leukemia virus subgroup C cellular receptor family, member 2
    feline leukemia virus subgroup C receptor-related protein 2
    major facilitator superfamily domain containing 7C

    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_145447.2 → NP_663422.1  heme transporter FLVCR2

      See identical proteins and their annotated locations for NP_663422.1

      Status: VALIDATED

      Source sequence(s)
      AC117240, AC138303
      Consensus CDS
      CCDS26062.1
      UniProtKB/Swiss-Prot
      Q91X85
      UniProtKB/TrEMBL
      A0A0R4J0E9
      Related
      ENSMUSP00000035569.4, ENSMUST00000040461.4
      Conserved Domains (2) summary
      cd06174
      Location:111 → 511
      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:113 → 477
      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_000078.7 Reference GRCm39 C57BL/6J

      Range
      85793313..85860359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515709.4 → XP_006515772.1  heme transporter FLVCR2 isoform X1

      See identical proteins and their annotated locations for XP_006515772.1

      UniProtKB/TrEMBL
      Q3UL56
      Conserved Domains (1) summary
      cl28910
      Location:1 → 236
      MFS; Major Facilitator Superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91X85.2 GenPept UniProtKB/Swiss-Prot:Q91X85

    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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