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Aliases for RCVRN Gene

Aliases for RCVRN Gene

  • Recoverin 2 3 3 5
  • Cancer-Associated Retinopathy Protein 3 4
  • RCV1 3 4
  • Cancer Associated Retinopathy Antigen 3
  • Protein CAR 4

External Ids for RCVRN Gene

Previous HGNC Symbols for RCVRN Gene

  • RCV1

Previous GeneCards Identifiers for RCVRN Gene

  • GC17M009742
  • GC17M009799

Summaries for RCVRN Gene

Entrez Gene Summary for RCVRN Gene

  • This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for RCVRN Gene

RCVRN (Recoverin) is a Protein Coding gene. Diseases associated with RCVRN include Cancer-Associated Retinopathy and Paraneoplastic Syndromes. Among its related pathways are Phototransduction and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium sensitive guanylate cyclase activator activity. An important paralog of this gene is HPCAL1.

UniProtKB/Swiss-Prot for RCVRN Gene

  • Seems to be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin. May be involved in the inhibition of the phosphorylation of rhodopsin in a calcium-dependent manner. The calcium-bound recoverin prolongs the photoresponse.

Additional gene information for RCVRN Gene

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

Genomics for RCVRN Gene

GeneHancer (GH) Regulatory Elements for RCVRN Gene

Promoters and enhancers for RCVRN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I009905 Promoter 0.5 EPDnew 558.2 +0.0 30 0.1 RCVRN PIR50616 GC17P009878
GH17I009906 Promoter 0.5 EPDnew 550.8 +0.3 330 0.1 PIR50616 RCVRN GC17P009878
GH17I009928 Enhancer 1 Ensembl ENCODE dbSUPER 12 -23.4 -23353 1 CTCF ZNF384 MNT RAD21 RFX5 MAFF JUND STAT3 SMC3 RCOR1 RCVRN GC17M009941 GC17P009918 GAS7
GH17I009841 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.8 +63.2 63236 2.1 FOXA2 ZNF48 FOSL2 RXRA FOXA3 USF2 REST MNT PPARG FOXA1 GC17M009839 RCVRN GC17P009848 GLP2R
GH17I009968 Enhancer 0.9 ENCODE dbSUPER 11.3 -63.7 -63715 2 NCOA3 ESRRA RFX1 NEUROD1 DPF2 MNT FOXA1 SREBF1 ZNF217 CTBP1 GAS7 RCVRN GC17P009965 GC17P010023
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RCVRN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RCVRN gene promoter:

Genomic Locations for RCVRN Gene

Genomic Locations for RCVRN Gene
chr17:9,896,320-9,905,621
(GRCh38/hg38)
Size:
9,302 bases
Orientation:
Minus strand
chr17:9,799,637-9,808,938
(GRCh37/hg19)

Genomic View for RCVRN Gene

Genes around RCVRN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RCVRN Gene

Proteins for RCVRN Gene

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

    Protein Symbol:
    P35243-RECO_HUMAN
    Recommended name:
    Recoverin
    Protein Accession:
    P35243
    Secondary Accessions:
    • Q53XL0

    Protein attributes for RCVRN Gene

    Size:
    200 amino acids
    Molecular mass:
    23130 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Binds two calcium ions; one with high affinity, the other with low affinity.

    Three dimensional structures from OCA and Proteopedia for RCVRN Gene

neXtProt entry for RCVRN Gene

Post-translational modifications for RCVRN Gene

No Post-translational modifications

Other Protein References for RCVRN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RCVRN Gene

Domains & Families for RCVRN Gene

Gene Families for RCVRN Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RCVRN Gene

Suggested Antigen Peptide Sequences for RCVRN Gene

Graphical View of Domain Structure for InterPro Entry

P35243

UniProtKB/Swiss-Prot:

RECO_HUMAN :
  • Belongs to the recoverin family.
Family:
  • Belongs to the recoverin family.
genes like me logo Genes that share domains with RCVRN: view

Function for RCVRN Gene

Molecular function for RCVRN Gene

UniProtKB/Swiss-Prot Function:
Seems to be implicated in the pathway from retinal rod guanylate cyclase to rhodopsin. May be involved in the inhibition of the phosphorylation of rhodopsin in a calcium-dependent manner. The calcium-bound recoverin prolongs the photoresponse.

Gene Ontology (GO) - Molecular Function for RCVRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008048 calcium sensitive guanylate cyclase activator activity TAS 1672047
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RCVRN: view
genes like me logo Genes that share phenotypes with RCVRN: view

Animal Models for RCVRN Gene

MGI Knock Outs for RCVRN:

miRNA for RCVRN Gene

miRTarBase miRNAs that target RCVRN

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RCVRN Gene

Localization for RCVRN Gene

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 RCVRN gene
Compartment Confidence
cytosol 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RCVRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with RCVRN: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for RCVRN Gene

Pathways & Interactions for RCVRN Gene

genes like me logo Genes that share pathways with RCVRN: view

Pathways by source for RCVRN Gene

Gene Ontology (GO) - Biological Process for RCVRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 1672047
GO:0007601 visual perception TAS,IEA --
GO:0007602 phototransduction IEA --
GO:0031284 positive regulation of guanylate cyclase activity IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with RCVRN: view

No data available for SIGNOR curated interactions for RCVRN Gene

Drugs & Compounds for RCVRN Gene

(5) Drugs for RCVRN Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Myristic acid Experimental Pharma Target 0

(6) Additional Compounds for RCVRN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RCVRN: view

Transcripts for RCVRN Gene

mRNA/cDNA for RCVRN Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(139) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RCVRN Gene

Recoverin:
Representative Sequences:

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

No ASD Table

Relevant External Links for RCVRN Gene

GeneLoc Exon Structure for
RCVRN
ECgene alternative splicing isoforms for
RCVRN

Expression for RCVRN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RCVRN Gene

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

This gene is overexpressed in Whole Blood (x5.8) and Brain - Frontal Cortex (BA9) (x4.0).

Protein differential expression in normal tissues from HIPED for RCVRN Gene

This gene is overexpressed in Retina (69.0).

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



Protein tissue co-expression partners for RCVRN Gene

NURSA nuclear receptor signaling pathways regulating expression of RCVRN Gene:

RCVRN

SOURCE GeneReport for Unigene cluster for RCVRN Gene:

Hs.80539

mRNA Expression by UniProt/SwissProt for RCVRN Gene:

P35243-RECO_HUMAN
Tissue specificity: Retina and pineal gland.

Evidence on tissue expression from TISSUES for RCVRN Gene

  • Eye(5)
  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RCVRN Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Organs:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with RCVRN: view

Orthologs for RCVRN Gene

This gene was present in the common ancestor of animals.

Orthologs for RCVRN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RCVRN 33 34
  • 99.67 (n)
cow
(Bos Taurus)
Mammalia RCVRN 33 34
  • 89.18 (n)
dog
(Canis familiaris)
Mammalia RCVRN 33 34
  • 89.01 (n)
rat
(Rattus norvegicus)
Mammalia Rcvrn 33
  • 88.22 (n)
mouse
(Mus musculus)
Mammalia Rcvrn 33 16 34
  • 87.71 (n)
oppossum
(Monodelphis domestica)
Mammalia RCVRN 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCVRN 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCVRN 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcvrn.1 33
  • 79.46 (n)
Str.13592 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.26344 33
zebrafish
(Danio rerio)
Actinopterygii rcvrna 33 34
  • 70.2 (n)
RCVRN (4 of 4) 34
  • 67 (a)
OneToMany
rcv1 34
  • 65 (a)
OneToMany
RCVRN (1 of 4) 34
  • 59 (a)
OneToMany
wufk53a03 33
fruit fly
(Drosophila melanogaster)
Insecta CG7646 34
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ncs-2 34
  • 46 (a)
OneToOne
Species where no ortholog for RCVRN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 RCVRN Gene

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

Paralogs for RCVRN Gene

(15) SIMAP similar genes for RCVRN Gene using alignment to 1 proteins:

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

Variants for RCVRN Gene

Sequence variations from dbSNP and Humsavar for RCVRN Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000581302 -- 9,906,782(-) G/A upstream_transcript_variant
rs1000697346 -- 9,906,988(-) C/T upstream_transcript_variant
rs1001353468 -- 9,902,147(-) C/G/T intron_variant
rs1001546157 -- 9,906,235(-) A/C upstream_transcript_variant
rs1002200003 -- 9,902,600(-) G/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv38n68 CNV loss 17160897
nsv1065401 CNV loss 25217958
nsv1131298 CNV deletion 24896259
nsv516119 CNV loss 19592680
nsv833360 CNV loss 17160897
nsv833361 CNV gain 17160897

Variation tolerance for RCVRN Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RCVRN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCVRN

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

Disorders for RCVRN Gene

MalaCards: The human disease database

(8) MalaCards diseases for RCVRN Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RCVRN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RCVRN

genes like me logo Genes that share disorders with RCVRN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCVRN Gene

Publications for RCVRN Gene

  1. Isolation of human retinal genes: recoverin cDNA and gene. (PMID: 1387789) Murakami A … Inana G (Biochemical and biophysical research communications 1992) 2 3 4 22 58
  2. Aberrantly expressed recoverin is functionally associated with G-protein-coupled receptor kinases in cancer cell lines. (PMID: 12507501) Miyagawa Y … Nakazawa M (Biochemical and biophysical research communications 2003) 2 3 22 58
  3. Expression of a photoreceptor protein, recoverin, as a cancer-associated retinopathy autoantigen in human lung cancer cell lines. (PMID: 8912538) Matsubara S … Takahara J (British journal of cancer 1996) 3 4 22 58
  4. Molecular cloning and nucleotide sequence of a cDNA encoding recoverin from human retina. (PMID: 8500558) Wiechmann AF … Hammarback JA (Experimental eye research 1993) 3 4 22 58
  5. Recoverin in pineal organs and retinae of various vertebrate species including man. (PMID: 1467959) Korf HW … Klein DC (Brain research 1992) 2 3 22 58

Products for RCVRN Gene

Sources for RCVRN Gene

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