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Aliases for FLVCR2 Gene

Aliases for FLVCR2 Gene

  • Feline Leukemia Virus Subgroup C Cellular Receptor Family, Member 2 2 3
  • C14orf58 3 4 6
  • CCT 3 4 6
  • Calcium-Chelate Transporter 3 4
  • PVHH 3 6
  • EPV 3 6
  • Feline Leukemia Virus Subgroup C Receptor-Related Protein 2 3
  • Feline Leukemia Virus Subgroup C Cellular Receptor 2 2
  • Chromosome 14 Open Reading Frame 58 2
  • FLVCRL14q 3
  • MFSD7C 3

External Ids for FLVCR2 Gene

Previous Symbols for FLVCR2 Gene

  • C14orf58

Summaries for FLVCR2 Gene

Entrez Gene Summary for FLVCR2 Gene

  • 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]

GeneCards Summary for FLVCR2 Gene

FLVCR2 (Feline Leukemia Virus Subgroup C Cellular Receptor Family, Member 2) is a Protein Coding gene. Diseases associated with FLVCR2 include proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome and dissociative disorder. GO annotations related to this gene include heme binding and heme transporter activity. An important paralog of this gene is DIRC2.

UniProtKB/Swiss-Prot for FLVCR2 Gene

  • Acts as an importer of heme. Also acts as a transporter for a calcium-chelator complex, important for growth and calcium metabolism.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLVCR2 Gene

Genomics for FLVCR2 Gene

Genomic Location for FLVCR2 Gene

Start:
75,578,597 bp from pter
End:
75,663,214 bp from pter
Size:
84,618 bases
Orientation:
Plus strand

Genomic View for FLVCR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FLVCR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLVCR2 Gene

Regulatory Elements for FLVCR2 Gene

Proteins for FLVCR2 Gene

  • Protein details for FLVCR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPI3-FLVC2_HUMAN
    Recommended name:
    Feline leukemia virus subgroup C receptor-related protein 2
    Protein Accession:
    Q9UPI3
    Secondary Accessions:
    • B7Z485
    • Q53ZT9
    • Q96JY3
    • Q9NX90

    Protein attributes for FLVCR2 Gene

    Size:
    526 amino acids
    Molecular mass:
    57241 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB55381.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FLVCR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLVCR2 Gene

Proteomics data for FLVCR2 Gene at MOPED

Post-translational modifications for FLVCR2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FLVCR2 Gene

Domains for FLVCR2 Gene

Protein Domains for FLVCR2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

FLVC2_HUMAN
Family:
  • Belongs to the major facilitator superfamily. Feline leukemia virus subgroup C receptor (TC 2.A.1.28.1) family.:
    • Q9UPI3
genes like me logo Genes that share domains with FLVCR2: view

Function for FLVCR2 Gene

Molecular function for FLVCR2 Gene

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

Gene Ontology (GO) - Molecular Function for FLVCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015232 heme transporter activity IDA 20823265
GO:0020037 heme binding IDA 20823265
genes like me logo Genes that share ontologies with FLVCR2: view

Phenotypes for FLVCR2 Gene

GenomeRNAi human phenotypes for FLVCR2:
genes like me logo Genes that share phenotypes with FLVCR2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for FLVCR2 Gene

Localization for FLVCR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLVCR2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLVCR2 Gene COMPARTMENTS Subcellular localization image for FLVCR2 gene
Compartment Confidence
plasma membrane 5
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FLVCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FLVCR2: view

Pathways for FLVCR2 Gene

SuperPathways for FLVCR2 Gene

No Data Available

Interacting Proteins for FLVCR2 Gene

Gene Ontology (GO) - Biological Process for FLVCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015886 heme transport IDA 20823265
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with FLVCR2: view

No data available for Pathways by source for FLVCR2 Gene

Compounds for FLVCR2 Gene

(1) HMDB Compounds for FLVCR2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Novoseek inferred chemical compound relationships for FLVCR2 Gene

Compound -log(P) Hits PubMed IDs
calcium 56 22
genes like me logo Genes that share compounds with FLVCR2: view

Transcripts for FLVCR2 Gene

mRNA/cDNA for FLVCR2 Gene

(2) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for FLVCR2 Gene

No ASD Table

Relevant External Links for FLVCR2 Gene

GeneLoc Exon Structure for
FLVCR2
ECgene alternative splicing isoforms for
FLVCR2

Expression for FLVCR2 Gene

mRNA expression in normal human tissues for FLVCR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FLVCR2 Gene

This gene is overexpressed in Nerve - Tibial (4.5) and Liver (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for FLVCR2 Gene

SOURCE GeneReport for Unigene cluster for FLVCR2 Gene Hs.509966

mRNA Expression by UniProt/SwissProt for FLVCR2 Gene

Q9UPI3-FLVC2_HUMAN
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
genes like me logo Genes that share expressions with FLVCR2: view

Orthologs for FLVCR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for FLVCR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FLVCR2 36
  • 99.56 (n)
  • 99.43 (a)
FLVCR2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 80 (a)
OneToMany
-- 37
  • 80 (a)
OneToMany
FLVCR2 36
  • 88.15 (n)
  • 88.97 (a)
dog
(Canis familiaris)
Mammalia FLVCR2 36
  • 89.64 (n)
  • 91.7 (a)
FLVCR2 37
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mfsd7c 36
  • 86.7 (n)
  • 86.83 (a)
Mfsd7c 16
Mfsd7c 37
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FLVCR2 37
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLVCR2 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Flvcr2 36
  • 86.35 (n)
  • 87.43 (a)
chicken
(Gallus gallus)
Aves FLVCR2 36
  • 72.33 (n)
  • 74.5 (a)
FLVCR2 37
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FLVCR2 37
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia flvcr2 36
  • 63.69 (n)
  • 64.76 (a)
zebrafish
(Danio rerio)
Actinopterygii flvcr2a 37
  • 70 (a)
OneToMany
flvcr2b 37
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1358 37
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C09D4.1 37
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
ManyToMany
-- 37
  • 45 (a)
ManyToMany
-- 37
  • 54 (a)
ManyToMany
Species with no ortholog for FLVCR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FLVCR2 Gene

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

Paralogs for FLVCR2 Gene

Paralogs for FLVCR2 Gene

Selected SIMAP similar genes for FLVCR2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with FLVCR2: view

Variants for FLVCR2 Gene

Sequence variations from dbSNP and Humsavar for FLVCR2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs759285 -- 75,636,501(+) GGGAT(G/T)GGAAT intron-variant
rs1002806 -- 75,616,461(-) CCAGC(A/T)GCTTT intron-variant
rs1008395 -- 75,614,382(+) TAAGC(A/G)CCAGA intron-variant
rs1009202 -- 75,596,748(-) acaga(G/T)ttttt intron-variant
rs1009203 -- 75,596,463(-) ggatg(A/C)aaact intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FLVCR2 Gene

Variant ID Type Subtype PubMed ID
nsv456342 CNV Loss 19166990
esv2670064 CNV Deletion 23128226

Relevant External Links for FLVCR2 Gene

HapMap Linkage Disequilibrium report
FLVCR2
Human Gene Mutation Database (HGMD)
FLVCR2

Disorders for FLVCR2 Gene

(1) OMIM Diseases for FLVCR2 Gene (610865)

UniProtKB/Swiss-Prot

FLVC2_HUMAN
  • Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]: 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. {ECO:0000269 PubMed:20206334, ECO:0000269 PubMed:20518025, ECO:0000269 PubMed:20690116}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for FLVCR2 Gene

(1) Novoseek inferred disease relationships for FLVCR2 Gene

Disease -log(P) Hits PubMed IDs
breast cancer 0 2

Relevant External Links for FLVCR2

Genetic Association Database (GAD)
FLVCR2
genes like me logo Genes that share disorders with FLVCR2: view

Publications for FLVCR2 Gene

  1. Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). (PMID: 20206334) Meyer E. … Maher E.R. (Am. J. Hum. Genet. 2010) 2 3 4
  2. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy. (PMID: 20690116) Thomas S. … Attie-Bitach T. (Hum. Mutat. 2010) 3 4
  3. The Fowler syndrome-associated protein FLVCR2 is an importer of heme. (PMID: 20823265) Duffy S.P. … Tailor C.S. (Mol. Cell. Biol. 2010) 3 4
  4. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for FLVCR2 Gene

Sources for FLVCR2 Gene

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