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    FLVCR2 FLVCR choline and putative heme transporter 2 [ Homo sapiens (human) ]

    Gene ID: 55640, updated on 10-Mar-2024

    Summary

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    Official Symbol
    FLVCR2provided by HGNC
    Official Full Name
    FLVCR choline and putative heme transporter 2provided by HGNC
    Primary source
    HGNC:HGNC:20105
    See related
    Ensembl:ENSG00000119686 MIM:610865; AllianceGenome:HGNC:20105
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCT; EPV; PVHH; MFSD7C; SLC49A2; C14orf58; FLVCRL14q
    Summary
    This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]
    Expression
    Broad expression in small intestine (RPKM 10.8), testis (RPKM 9.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (75578620..75648167)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (69787736..69857276)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76044963..76114510)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8753 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:76004983-76005197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8757 Neighboring gene uncharacterized LOC107984653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8759 Neighboring gene basic leucine zipper ATF-like transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5949 Neighboring gene FLVCR2 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:76068843-76069722 Neighboring gene RNA, 5S ribosomal pseudogene 387 Neighboring gene ribosomal protein S24 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 2473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8762 Neighboring gene ergosterol biosynthesis 28 homolog Neighboring gene MPRA-validated peak2202 silencer Neighboring gene tubulin tyrosine ligase like 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:76278539-76279044 Neighboring gene ribosomal protein S2 pseudogene 43

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants. Al-Murshedi F, et al. Clin Genet, 2020 Nov. PMID 32901920
    2. Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature. De Luca C, et al. Clin Genet, 2020 Nov. PMID 32333401
    3. Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy. Kvarnung M, et al. Clin Genet, 2016 Jan. PMID 25677735
    4. Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine. Soster EL, et al. Birth Defects Res A Clin Mol Teratol, 2015 Jan. PMID 25131804
    5. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. Thomas S, et al. Hum Mutat, 2010 Oct. PMID 20690116

    See all (23) 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. Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.
      Title: Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.
    3. Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
      Title: Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature.
    4. MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.
      Title: MFSD7C switches mitochondrial ATP synthesis to thermogenesis in response to heme.
    5. Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy
      Title: Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
    6. Mutations in FLVCR2 gene are responsible for Proliferative vasculopathy and Hydranencephaly-hydrocephaly syndrome. FLVCR2 transporter is gatekeeper for the controlled entry of calcium into cell, and involves the regulation of calcium metabolism.
      Title: Genetics and molecular biology of brain calcification.
    7. FLVCR2 mutation is associated with Hydranencephaly.
      Title: Hydranencephaly in a newborn with a FLVCR2 mutation and prenatal exposure to cocaine.
    8. High-throughput sequence data identified mutations and a large deletion in the FLVCR2 gene casuing lethal cerebral vasculopathy.
      Title: High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
    9. Results report the cellular function of FLVCR2 as an importer of heme.
      Title: The Fowler syndrome-associated protein FLVCR2 is an importer of heme.
    10. Direct sequencing of candidate genes within the target interval in chromosome 14q24.3 revealed five different germline mutations in FLVCR2 in five families with Fowler syndrome.
      Title: Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome).
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Fowler syndrome
    MedGen: C1856972 OMIM: 225790 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: TTLL5

    Homology

    Clone Names

    • FLJ20371

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heme transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heme transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heme export IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    heme transporter FLVCR2
    Names
    FLVCR heme transporter 2
    calcium-chelate transporter
    feline leukemia virus subgroup C cellular receptor family member 2
    feline leukemia virus subgroup C receptor-related protein 2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_027694.1 RefSeqGene

      Range
      5024..74571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195283.2 → NP_001182212.1  heme transporter FLVCR2 isoform 2

      See identical proteins and their annotated locations for NP_001182212.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK297002, AY260577, CR739521
      Consensus CDS
      CCDS55933.1
      UniProtKB/Swiss-Prot
      Q9UPI3
      Related
      ENSP00000443439.1, ENST00000539311.5
      Conserved Domains (2) summary
      cd06174
      Location:19 → 283
      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:19 → 249
      MFS_1; Major Facilitator Superfamily

    2. NM_017791.3 → NP_060261.2  heme transporter FLVCR2 isoform 1

      See identical proteins and their annotated locations for NP_060261.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AY260577, BC019087, CR739521, DA166212
      Consensus CDS
      CCDS9844.1
      UniProtKB/Swiss-Prot
      B7Z485, Q53ZT9, Q96JY3, Q9NX90, Q9UPI3
      Related
      ENSP00000238667.4, ENST00000238667.9
      Conserved Domains (1) summary
      cd06174
      Location:88 → 488
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      75578620..75648167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      69787736..69857276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPI3.1 GenPept UniProtKB/Swiss-Prot:Q9UPI3

    Gene LinkOut

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

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