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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FLVCR2 Gene

protein-coding   GIFtS: 49
GCID: GC14P076045

feline leukemia virus subgroup C cellular receptor family,...

(Previous names: chromosome 14 open reading frame 58, feline leukemia virus...)
(Previous symbol: C14orf58)
 Explore 15 diseases affiliated with
FLVCR2 via our new
 Human Malady Compendium 
Biological research products
for FLVCR2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Feline Leukemia Virus Subgroup C Cellular Receptor Family, Member 21 2     PVHH2 5
C14orf581 2 3 5     FLJ203711
CCT2 3 5     Chromosome 14 Open Reading Frame 581
MFSD7C1 2     Feline Leukemia Virus Subgroup C Cellular Receptor 21
Calcium-Chelate Transporter2 3     FLVCRL14q2
EPV2 5     Feline Leukemia Virus Subgroup C Receptor-Related Protein 22

External Ids:    HGNC: 201051   Entrez Gene: 556402   Ensembl: ENSG000001196867   OMIM: 6108655   UniProtKB: Q9UPI33   

Export aliases for FLVCR2 gene to outside databases

Previous GC identifers: GC14P075115 GC14P056212


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FLVCR2:
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)

UniProtKB/Swiss-Prot: FLVC2_HUMAN, Q9UPI3
Function: Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth
and calcium metabolism




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FLVCR2 gene promoter:
         ER-alpha   AhR   c-Fos   AP-1   Olf-1   POU3F2   Arnt   C/EBPalpha   AREB6   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFLVCR2 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FLVCR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

FLVCR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FLVCR2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P076045:  view genomic region     (about GC identifiers)

Start:
76,044,940 bp from pter      End:
76,129,557 bp from pter
Size:
84,618 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FLVC2_HUMAN, Q9UPI3 (See protein sequence)
Recommended Name: Feline leukemia virus subgroup C receptor-related protein 2  
Size: 526 amino acids; 57241 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAB55381.1; Type=Erroneous initiation;
Secondary accessions: B7Z485 Q53ZT9 Q96JY3 Q9NX90
Alternative splicing: 2 isoforms:  Q9UPI3-1   Q9UPI3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FLVCR2: NX_Q9UPI3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UPI3

  • FLVCR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182212.1  NP_060261.2  

    ENSEMBL proteins: 
     ENSP00000238667   ENSP00000443439   ENSP00000451104   ENSP00000452584   ENSP00000451603  
     ENSP00000452468   ENSP00000451781   ENSP00000452453  

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    Uscn Proteins for FLVCR2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--


    FLVCR2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FLVCR2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9UPI3

    ProtoNet protein and cluster: Q9UPI3

    UniProtKB/Swiss-Prot: FLVC2_HUMAN, Q9UPI3
    Similarity: Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1)
    family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FLVC2_HUMAN, Q9UPI3
    Function: Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth
    and calcium metabolism

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015232heme transporter activity IDA--
    GO:0020037heme binding IDA--


    FLVCR2 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for FLVCR2:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FLVCR2

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015886heme transport IDA--
    GO:0055085transmembrane transport IEA--


    FLVCR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FLVCR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FLVCR2

    1 HMDB Compound for FLVCR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    1 Novoseek chemical compound relationship for FLVCR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 56 40 17321497 (2), 17979693 (2), 2156817 (2), 8273213 (1) (see all 19)

    Search CenterWatch for drugs/clinical trials and news about FLVCR2 / FLVC2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for FLVCR2 gene (2 alternative transcripts): 
    NM_001195283.1  NM_017791.2  

    Unigene Clusters for FLVCR2:

    Feline leukemia virus subgroup C cellular receptor family, member 2
    Hs.509966  [show with all ESTs], Hs.615289
    Unigene Representative Sequences: NM_017791, BC001448
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000238667(uc001xrs.2 uc010tvd.1) ENST00000554496 ENST00000555385
    ENST00000539311 ENST00000555058 ENST00000553341 ENST00000556241 ENST00000553587
    ENST00000556856 ENST00000554580 ENST00000555027 ENST00000556409 ENST00000556745


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    hsa-miR-30c hsa-miR-548j hsa-miR-125a-5p hsa-miR-137 hsa-miR-548i hsa-miR-30d hsa-miR-30a hsa-miR-125b
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    Additional cDNA sequence: BC001448.2 

    5 DOTS entries:

    DT.313660  DT.100721865  DT.100695772  DT.91815267  DT.120752774 

    5 AceView cDNA sequences:

    CD674973 AL049169 BC001448 BE281496 BE281518 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FLVCR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATTTTACA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    FLVCR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FLVCR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FLVCR2

    SOURCE GeneReport for Unigene clusters: Hs.509966 Hs.615289

    UniProtKB/Swiss-Prot: FLVC2_HUMAN, Q9UPI3
    Tissue specificity: Expressed in non-hematopoietic tissues, with relative abundant expression in brain, placenta, lung,
    liver and kidney. Also expressed in hematopoietic tissues (fetal liver, spleen, lymph node, thymus, leukocytes and
    bone marrow). Found in acidophil cells of the pituitary that secrete growth hormone and prolactin

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FLVCR2 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FLVCR21 feline leukemia virus subgroup C cellular receptor more 71.91(n)
    74.06(a)
      423365  XM_421280.3  XP_421280.2 
    lizard
    (Anolis carolinensis)
    Reptilia FLVCR26
    --
    69(a)
    1 ↔ 1
    1(22218683-22266359)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA985348.12   -- 74.42(n)    CA985348.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570458692   -- 70.16(n)    57045869 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG13581 CG1358 58.77(n)
    52.87(a)
      35697  NM_001201944.1  NP_001188873.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C09D4.11 Protein C09D4.1 51.75(n)
    48.56(a)
      172203  NM_001025820.2  NP_001020991.1 


    ENSEMBL Gene Tree for FLVCR2 (if available)
    TreeFam Gene Tree for FLVCR2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FLVCR2 gene
    MFSD72  FLVCR12  DIRC22  
    1 SIMAP similar gene for FLVCR2 using alignment to 7 protein entries:     FLVC2_HUMAN (see all proteins):
    FLVCR1

    FLVCR2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1202 NCBI SNPs in FLVCR2 are shown (see all 1202    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1384957051,2
    C,pathogenic95603349(+) TGGCTA/C/TGGCTC 3 * S L stg1 mis10--------
    rs780144971,2
    F,--56211174(+) TTTGGA/TTGACC 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs744194371,2
    C,F,--56211245(+) TGCCCG/AANNNN 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs118473971,2
    C,F,H,--56211306(+) agagcC/TactTC 1 -- us2k15Minor allele frequency- T:0.00NS EA NA 422
    rs1129956511,2
    C--56211763(+) TCTTGA/TGATGC 1 -- us2k10--------
    rs740673231,2
    C,--56212440(+) ATCTAC/TAAATC 1 -- us2k12Minor allele frequency- T:0.03WA 120
    rs454861001,2
    --56212578(+) GGCACA/CGGAGA 1 -- us2k10--------
    rs800012971,2
    --56213149(+) TTTCTC/TCTGGA 1 -- ut510--------
    rs801891311,2
    C,--56213688(+) GGCTTG/TGCTGC 2 W L mis10--------
    rs770576381,2
    C,--56213897(+) TTTCAA/CCAGCC 2 T P mis10--------

    HapMap Linkage Disequilibrium report for FLVCR2 (76044940 - 76129557 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FLVCR2
         1 CNV: 87275
         1 Indel: 76679
    Human Gene Mutation Database (HGMD): FLVCR2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FLVCR2 for disorders           About GeneDecksing

    OMIM gene information: 610865   
    OMIM disorders: 225790  
    UniProtKB/Swiss-Prot: FLVC2_HUMAN, Q9UPI3
  • Defects in FLVCR2 are the cause of proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH)
  • [MIM:225790]. It is a rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular
    vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia,
    and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral
    hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue

    15 diseases for FLVCR2:    About MalaCards
    proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome    proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome    hydranencephaly    leukemia
    central pontine myelinolysis    ischemic optic neuropathy    fowler's syndrome    neuropathy
    breast cancer    hepatocellular carcinoma    colon cancer    cerebritis
    retinitis    carcinoma    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for FLVCR2:
    Hydranencephaly     Dissociative disorder     Central pontine myelinolysis

    1 Novoseek disease relationship for FLVCR2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0 2 16410040 (1), 17321497 (1)


    Export disorders for FLVCR2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FLVCR2 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with FLVCR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). (PubMed id 20206334)1, 2, 3 Meyer E....Maher E.R. (2010)
    2. The Fowler syndrome-associated protein FLVCR2 is an i mporter of heme. (PubMed id 20823265)1, 2 Duffy S.P....Tailor C.S. (2010)
    3. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. (PubMed id 20690116)1, 2 Thomas S.... Attie-Bitach T. (2010)
    4. Comprehensive mapping of receptor-functioning domains in feline leukemia virus subgroup C receptor FLVCR1. (PubMed id 16439531)1, 3 Brown J.K....Tailor C.S. (2006)
    5. Novel hexad repeats conserved in a putative transporter with restricted expression in cell types associated with growth, calcium exchange and homeostasis. (PubMed id 14729055)1, 2 Brasier G.... Wookey P.J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (2003)
    9. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing. (PubMed id 20518025)2 Lalonde E.... Jabado N. (2010)
    10. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55640 HGNC: 20105 AceView: C14orf58.1 Ensembl:ENSG00000119686 euGenes: HUgn55640
    ECgene: FLVCR2 H-InvDB: FLVCR2

    (According to HUGE)
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    NameDescription
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