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

Gene ID: 217721, updated on 21-Apr-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)
  • Gene trapped (1) 
  • Targeted (6)  1 citation
  • 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

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

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