Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FLVCR2 Gene

Aliases for FLVCR2 Gene

  • Feline Leukemia Virus Subgroup C Cellular Receptor Family Member 2 2 3 5
  • Calcium-Chelate Transporter 3 4
  • C14orf58 3 4
  • CCT 3 4
  • Feline Leukemia Virus Subgroup C Cellular Receptor Family, Member 2 2
  • 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
  • PVHH 3
  • EPV 3

External Ids for FLVCR2 Gene

Previous HGNC Symbols for FLVCR2 Gene

  • C14orf58

Previous GeneCards Identifiers for FLVCR2 Gene

  • GC14P075115
  • GC14P076045
  • GC14P056212

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 Hydranencephaly. GO annotations related to this gene include heme binding and heme transporter activity. An important paralog of this gene is FLVCR1.

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

Regulatory Elements for FLVCR2 Gene

Enhancers for FLVCR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F075644 1.3 Ensembl ENCODE 32.9 +69.2 69181 7.4 PKNOX1 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF302 FOS FLVCR2 PROX2 LOC102724153 TTLL5 BATF IFT43 GC14M075659
GH14F075633 1.1 Ensembl ENCODE 25.9 +57.3 57291 4.4 CTCF ESRRA PKNOX1 JUN SIN3A CEBPG RAD21 GATA3 CTBP1 HSF1 FLVCR2 NEK9 LOC102724153 TTLL5 GC14M075659
GH14F075659 1.1 ENCODE 24.6 +82.5 82504 2.4 HDGF PKNOX1 ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 ZNF143 FLVCR2 RPS2P43 ENSG00000259103 NEK9 FCF1 LOC102724153 TTLL5 IFT43 DPPA5P4 LOC105370571
GH14F075613 1.1 FANTOM5 Ensembl ENCODE 22.9 +36.1 36073 3.2 SMARCA4 SCRT2 ZNF143 SPI1 FLVCR2 TTLL5 LOC102724153 JDP2 BATF FOS MIR7641-2
GH14F075609 1 FANTOM5 Ensembl ENCODE 24.1 +32.0 31966 2.3 CTCF FLVCR2 TTLL5 LOC102724153 JDP2 BATF MIR7641-2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FLVCR2 on UCSC Golden Path with GeneCards custom track

Promoters for FLVCR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098850 1303 4601 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 GLIS2 REST GLIS1 MXD3

Genomic Location for FLVCR2 Gene

Chromosome:
14
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

Genes around FLVCR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLVCR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLVCR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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 & Families for FLVCR2 Gene

Protein Domains for FLVCR2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FLVCR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UPI3

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for FLVCR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for FLVCR2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FLVCR2 gene
Compartment Confidence
plasma membrane 5
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for FLVCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FLVCR2: view

Pathways & Interactions for FLVCR2 Gene

SuperPathways for FLVCR2 Gene

No Data Available

Interacting Proteins for FLVCR2 Gene

Selected Interacting proteins: Q9UPI3-FLVC2_HUMAN for FLVCR2 Gene via IID

Symbol External ID(s) Details
NXF1
SHMT2

Gene Ontology (GO) - Biological Process for FLVCR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015886 heme transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with FLVCR2: view

No data available for Pathways by source and SIGNOR curated interactions for FLVCR2 Gene

Drugs & Compounds for FLVCR2 Gene

(1) Drugs for FLVCR2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
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 :

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x4.5) and Liver (x4.1).

Protein differential expression in normal tissues from HIPED for FLVCR2 Gene

This gene is overexpressed in Testis (38.0), Ovary (13.6), and Placenta (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FLVCR2 Gene



Protein tissue co-expression partners for FLVCR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of FLVCR2 Gene:

FLVCR2

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 expression patterns with FLVCR2: view

Primer Products

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 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia FLVCR2 34 35
  • 89.64 (n)
cow
(Bos Taurus)
Mammalia FLVCR2 34
  • 88.15 (n)
-- 35
  • 80 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mfsd7c 34 16 35
  • 86.7 (n)
rat
(Rattus norvegicus)
Mammalia Flvcr2 34
  • 86.35 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FLVCR2 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FLVCR2 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLVCR2 34 35
  • 72.33 (n)
lizard
(Anolis carolinensis)
Reptilia FLVCR2 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia flvcr2 34
  • 63.69 (n)
zebrafish
(Danio rerio)
Actinopterygii flvcr2a 35
  • 70 (a)
OneToMany
flvcr2b 35
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1358 35
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C09D4.1 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
ManyToMany
-- 35
  • 45 (a)
ManyToMany
-- 35
  • 45 (a)
ManyToMany
Species where no ortholog for FLVCR2 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs267606822 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790], Pathogenic 75,639,419(+) TGAAC(C/G)TGGGA reference, missense
rs267606823 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790], Pathogenic 75,624,639(+) TCCCC(C/G)CAGCA reference, missense
rs267606824 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790], Pathogenic 75,633,653(+) TTATG(C/T)CTTGT reference, missense
rs267606825 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790], Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790], Pathogenic 75,641,008(+) GCTCA(C/G/T)GTACC reference, missense
VAR_064410 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) [MIM:225790]

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

Variant ID Type Subtype PubMed ID
nsv976355 CNV duplication 23825009
nsv565205 CNV loss 21841781
nsv456342 CNV loss 19166990
nsv1138317 CNV deletion 24896259
nsv1037822 CNV gain 25217958
esv3634969 CNV loss 21293372
esv2670064 CNV deletion 23128226

Variation tolerance for FLVCR2 Gene

Residual Variation Intolerance Score: 48.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.94; 74.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLVCR2 Gene

Human Gene Mutation Database (HGMD)
FLVCR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FLVCR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLVCR2 Gene

Disorders for FLVCR2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for FLVCR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
hydranencephaly
  • hydroanencephaly
fowler's syndrome
  • fowler christmas chapple syndrome
dissociative disorder
  • dissociative disease
cystic lymphangioma
  • cystic hygroma
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for FLVCR2

Genetic Association Database (GAD)
FLVCR2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FLVCR2
genes like me logo Genes that share disorders with FLVCR2: view

No data available for Genatlas for FLVCR2 Gene

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 64
  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 64
  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 64
  4. Comprehensive mapping of receptor-functioning domains in feline leukemia virus subgroup C receptor FLVCR1. (PMID: 16439531) Brown J.K. … Tailor C.S. (J. Virol. 2006) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for FLVCR2 Gene

Sources for FLVCR2 Gene

Content
Loading form....