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 Ref... See more...

Aliases for RCVRN Gene

Aliases for RCVRN Gene

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

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 Signaling by GPCR and Metabolism of fat-soluble vitamins. 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 HPCA.

UniProtKB/Swiss-Prot Summary for RCVRN Gene

  • Acts as a calcium sensor and regulates phototransduction of cone and rod photoreceptor cells (By similarity). Modulates light sensitivity of cone photoreceptor in dark and dim conditions (By similarity). In response to high Ca(2+) levels induced by low light levels, prolongs RHO/rhodopsin activation in rod photoreceptor cells by binding to and inhibiting GRK1-mediated phosphorylation of RHO/rhodopsin (By similarity). Plays a role in scotopic vision/enhances vision in dim light by enhancing signal transfer between rod photoreceptors and rod bipolar cells (By similarity). Improves rod photoreceptor sensitivity in dim light and mediates response of rod photoreceptors to facilitate detection of change and motion in bright light (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RCVRN Gene

Genomics for RCVRN Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH17J009905 Promoter 0.3 EPDnew 600.7 0.0 -20 0.1 RCVRN piR-56617 piR-50443-157 GAS7
GH17J009968 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -69.2 -69187 12.3 CREB1 PRDM10 KDM1A TARDBP ZHX2 FOXA1 ZIC2 ATF7 SCRT2 ZBTB44 GAS7 RCVRN piR-61532-118 lnc-RCVRN-1 piR-37486
GH17J009907 Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.7 -3.1 -3118 1.4 SP1 CREB1 MAX RFX5 USF2 piR-56617 piR-50443-157 RCVRN piR-37486 GAS7
GH17J009928 Enhancer 0.9 Ensembl ENCODE dbSUPER 12 -23.7 -23703 1 CTCF RCOR1 JUND FOSL2 RAD21 RFX5 SMC3 STAT3 ZNF384 MAFK RCVRN piR-37486 piR-61532-118 GAS7
GH17J009841 Enhancer 1 Ensembl ENCODE dbSUPER 10.8 +62.8 62813 2.3 PRDM1 RXRB REST SP1 MNT FOXA2 ATF3 NR3C1 YY1 NR2F2 RCVRN lnc-GSG1L2-2 lnc-GSG1L2-1 GLP2R
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCVRN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RCVRN

Top Transcription factor binding sites by QIAGEN in the RCVRN gene promoter:
  • ARP-1
  • c-Myb
  • CBF(2)
  • FOXJ2 (long isoform)
  • GATA-1
  • Ik-2
  • MyoD
  • NF-Y
  • Pax-4a
  • RORalpha1

Genomic Locations for RCVRN Gene

Genomic Locations for RCVRN Gene
chr17:9,896,320-9,905,271
(GRCh38/hg38)
Size:
8,952 bases
Orientation:
Minus strand
chr17:9,799,637-9,808,938
(GRCh37/hg19)
Size:
9,302 bases
Orientation:
Minus strand

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:
    • Homodimer; disulfide-linked (By similarity). Homodimerization is caused by prolonged intense illumination (By similarity). May form a complex composed of RHO, GRK1 and RCVRN in a Ca(2+)-dependent manner; RCVRN prevents the interaction between GRK1 and RHO (By similarity). Interacts (via C-terminus) with GRK1 (via N-terminus); the interaction is Ca(2+)-dependent (By similarity).

    Three dimensional structures from OCA and Proteopedia for RCVRN Gene

neXtProt entry for RCVRN Gene

Post-translational modifications for RCVRN Gene

  • The N-terminal glycine is linked to one of four different types of acyl groups. The most abundant is myristoleate (14:1), but 14:0, 14:2, and 12:0 acyl residues are also present (By similarity). The Ca(2+) induced exposure of the myristoyl group, known as the calcium-myristoyl switch, promotes RCVRN binding to the photoreceptor cell membranes only when intracellular Ca(2+) concentration is high (By similarity).
  • Oxidation on Cys-39 occurs in response to prolonged intense illumination and results in the formation of disulfide homodimers, and to a lesser extent disulfide-linked heterodimers.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
Blocks:
  • Recoverin family signature
ProtoNet:

Suggested Antigen Peptide Sequences for RCVRN Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ94826, Homo sapiens recoverin (RCV1), mRNA (Q53XL0_HUMAN)
  • Cancer-associated retinopathy protein (RECO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35243

UniProtKB/Swiss-Prot:

RECO_HUMAN :
  • EF-hand 2 and EF-hand 3 domains are the low-affinity and the high-affinity calcium binding sites, respectively. EF-hand 1 and EF-hand 4 domains do not bind calcium due to substitutions that disrupt their respective Ca(2+) binding loops. The cooperative binding of calcium to the EF-hand 2 domain following EF-hand 3 domain calcium binding requires myristoylation (By similarity). Calcium binding to the 2 EF-hand domains induces exposure of the myristoyl group through a protein conformation change, this process known as the calcium-myristoyl switch facilitates binding to photoreceptor cell membranes (By similarity).
  • Belongs to the recoverin family.
Domain:
  • EF-hand 2 and EF-hand 3 domains are the low-affinity and the high-affinity calcium binding sites, respectively. EF-hand 1 and EF-hand 4 domains do not bind calcium due to substitutions that disrupt their respective Ca(2+) binding loops. The cooperative binding of calcium to the EF-hand 2 domain following EF-hand 3 domain calcium binding requires myristoylation (By similarity). Calcium binding to the 2 EF-hand domains induces exposure of the myristoyl group through a protein conformation change, this process known as the calcium-myristoyl switch facilitates binding to photoreceptor cell membranes (By similarity).
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:
Acts as a calcium sensor and regulates phototransduction of cone and rod photoreceptor cells (By similarity). Modulates light sensitivity of cone photoreceptor in dark and dim conditions (By similarity). In response to high Ca(2+) levels induced by low light levels, prolongs RHO/rhodopsin activation in rod photoreceptor cells by binding to and inhibiting GRK1-mediated phosphorylation of RHO/rhodopsin (By similarity). Plays a role in scotopic vision/enhances vision in dim light by enhancing signal transfer between rod photoreceptors and rod bipolar cells (By similarity). Improves rod photoreceptor sensitivity in dim light and mediates response of rod photoreceptors to facilitate detection of change and motion in bright light (By similarity).

Phenotypes From GWAS Catalog for RCVRN Gene

Gene Ontology (GO) - Molecular Function for RCVRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding TAS,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:

Animal Model Products

CRISPR Products

miRNA for RCVRN Gene

miRTarBase miRNAs that target RCVRN

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCVRN

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

Localization for RCVRN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCVRN Gene

Photoreceptor inner segment. Cell projection, cilium, photoreceptor outer segment. Photoreceptor outer segment membrane. Lipid-anchor. Cytoplasmic side. Perikaryon. Note=Primarily expressed in the inner segments of light-adapted rod photoreceptors, approximately 10% of which translocates from photoreceptor outer segments upon light stimulation (By similarity). Targeting of myristoylated protein to rod photoreceptor outer segments is calcium dependent (By similarity). {ECO:0000250 UniProtKB:P21457, ECO:0000250 UniProtKB:P34057}.

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
nucleus 3
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for RCVRN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with RCVRN: view

No data available for 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

1 Qiagen pathway for RCVRN Gene
  • Visual Cycle in Retinal Rods

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
Myristic acid Experimental Pharma Target 0
Calcium Nutra 6556

(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 :
13 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCVRN

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

No ASD Table

Relevant External Links for RCVRN Gene

GeneLoc Exon Structure for
RCVRN

Expression for RCVRN Gene

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



Protein tissue co-expression partners for RCVRN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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)
  • Skin(2)

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

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
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 30 31
  • 99.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RCVRN 30 31
  • 89.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RCVRN 30 31
  • 89.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rcvrn 30
  • 88.22 (n)
Mouse
(Mus musculus)
Mammalia Rcvrn 30 17 31
  • 87.71 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RCVRN 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RCVRN 31
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RCVRN 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rcvrn.1 30
  • 79.46 (n)
Str.13592 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.26344 30
Zebrafish
(Danio rerio)
Actinopterygii rcvrna 30 31
  • 70.2 (n)
OneToMany
RCVRN (4 of 4) 31
  • 67 (a)
OneToMany
rcv1 31
  • 65 (a)
OneToMany
RCVRN (1 of 4) 31
  • 59 (a)
OneToMany
wufk53a03 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG7646 31
  • 39 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea ncs-2 31
  • 46 (a)
OneToOne
Species where no ortholog for RCVRN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for RCVRN: view image

Paralogs for RCVRN Gene

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

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

Variants for RCVRN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RCVRN Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
781346 Benign: not provided 9,901,082(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RCVRN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for RCVRN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cancer-associated retinopathy
  • car syndrome
paraneoplastic syndromes
acquired night blindness
interval angle-closure glaucoma
  • angle-closure glaucoma, subacute
neuroretinitis
  • focal retinitis and retinochoroiditis, juxtapapillary
- elite association - COSMIC cancer census association via MalaCards
Search RCVRN in MalaCards View complete list of genes associated with diseases
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 23
  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 23
  3. Functional analysis of the human recoverin gene promoter. (PMID: 12789533) Wiechmann A … Howard E (Current eye research 2003) 2 3 23
  4. 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 23
  5. 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 23

Products for RCVRN Gene

Sources for RCVRN Gene