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RCVRN Gene

protein-coding   GIFtS: 59
GCID: GC17M009799

Recoverin


(Previous symbol: RCV1)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
recoverin1 2
RCV11 2 3 5
Cancer-Associated Retinopathy Protein2 3
Cancer Associated Retinopathy Antigen2
Protein CAR3

External Ids:    HGNC: 99371   Entrez Gene: 59572   Ensembl: ENSG000001090477   OMIM: 1796185   UniProtKB: P352433   

Export aliases for RCVRN gene to outside databases

Previous GC identifer: GC17M009742


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 retinitis pigmentosa 42, and autoimmune retinopathy. GO annotations related to this gene include calcium sensitive guanylate cyclase activator activity and calcium ion binding. An important paralog of this gene is HPCA.

UniProtKB/Swiss-Prot: RECO_HUMAN, P35243
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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RCVRN gene promoter:
         MyoD   GATA-1   RORalpha1   Ik-2   FOXJ2 (long isoform)   c-Myb   ARP-1   Pax-4a   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRCVRN promoter sequence
   Search Chromatin IP Primers for RCVRN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RCVRN


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M009799:  view genomic region     (about GC identifiers)

Start:
9,799,637 bp from pter      End:
9,808,938 bp from pter
Size:
9,302 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RECO_HUMAN, P35243 (See protein sequence)
Recommended Name: Recoverin  
Size: 200 amino acids; 23130 Da
Miscellaneous: Binds two calcium ions; one with high affinity, the other with low affinity
1 PDB 3D structure from and Proteopedia for RCVRN:
2D8N (3D)    
Secondary accessions: Q53XL0

Explore the universe of human proteins at neXtProt for RCVRN: NX_P35243

Explore proteomics data for RCVRN at MOPED


See RCVRN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002894.1  
ENSEMBL proteins: 
 ENSP00000226193  
Reactome Protein details: P35243

RCVRN Human Recombinant Protein Products:

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Cloud-Clone Corp. ELISAs for RCVRN
Cloud-Clone Corp. CLIAs for RCVRN


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
EFHAND: EF-hand domain containing

4 InterPro protein domains:
 IPR001125 Recoverin_like
 IPR011992 EF-hand-dom_pair
 IPR002048 EF_hand_dom
 IPR018247 EF_Hand_1_Ca_BS

Graphical View of Domain Structure for InterPro Entry P35243

ProtoNet protein and cluster: P35243

1 Blocks protein domain: IPB001125 Recoverin family signature

UniProtKB/Swiss-Prot: RECO_HUMAN, P35243
Similarity: Belongs to the recoverin family
Similarity: Contains 4 EF-hand domains


RCVRN for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: RECO_HUMAN, P35243
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): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005509calcium ion binding IEA--
GO:0008048calcium sensitive guanylate cyclase activator activity TAS1672047
     
RCVRN for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for RCVRN:
 Decreased circadian period len  Increased G1 DNA content 

     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Rcvrn):
 vision/eye 

RCVRN for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Rcvrntm1Clma for RCVRN

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RCVRN
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RCVRN

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RCVRN
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RCVRN

miRNA
Products:
    
miRTarBase miRNAs that target RCVRN:
hsa-mir-335-5p (MIRT017646)

Block miRNA regulation of human, mouse, rat RCVRN using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate RCVRN (see all 10):
hsa-miR-3130-5p hsa-miR-3117-3p hsa-miR-3139 hsa-miR-500a hsa-miR-4267 hsa-miR-1912 hsa-miR-27b* hsa-miR-708
SwitchGear 3'UTR luciferase reporter plasmidRCVRN 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for RCVRN
Predesigned siRNA for gene silencing in human, mouse, rat RCVRN

Gene Editing
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DNA2.0 Custom Protein Engineering Service for RCVRN

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OriGene clones in human, mouse for RCVRN (see all 5)
OriGene ORF clones in mouse, rat for RCVRN
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GenScript: all cDNA clones in your preferred vector: RCVRN (NM_002903)
Sino Biological Human cDNA Clone for RCVRN
DNA2.0 Custom Codon Optimized Gene Synthesis Service for RCVRN
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCVRN

Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCVRN


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
cytoskeleton2
mitochondrion2
nucleus2
peroxisome1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0030425dendrite IEA--

RCVRN for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for RCVRN About                                                                                                See pathways by source

SuperPathContained pathways About
1The phototransduction cascade
The phototransduction cascade0.51
Inactivation, recovery and regulation of the phototransduction cascade0.49
Phototransduction0.51
2Diseases associated with visual transduction
Visual phototransduction0.44
Diseases associated with visual transduction0.43
3Signaling by GPCR
Signal Transduction0.58
4Disease
Disease

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RCVRN
    Visual Cycle in Retinal Rods


1 Reactome Pathway for RCVRN
    Inactivation, recovery and regulation of the phototransduction cascade


1 Kegg Pathway  (Kegg details for RCVRN):
    Phototransduction


RCVRN for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler PCR Arrays including RCVRN: 
          Cell Lineage Identification in human mouse rat
          Terminal Differentiation Markers in human mouse rat

Interactions:

    GeneGlobe Interaction Network for RCVRN

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for RCVRN (P352432, 3 ENSP000002261934) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
InteractantInteraction Details
GeneCardExternal ID(s)
PQBP1O608282, 3, ENSP000003657474MINT-2862654 I2D: score=3 STRING: ENSP00000365747
CAV1Q031353, ENSP000003391914I2D: score=3 STRING: ENSP00000339191
GRK6P432503, ENSP000003772044I2D: score=3 STRING: ENSP00000377204
GRK1Q158353, ENSP000003348764I2D: score=2 STRING: ENSP00000334876
ADRBK1P250983, ENSP000003122624I2D: score=2 STRING: ENSP00000312262
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Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007165signal transduction TAS1672047
GO:0007601visual perception IEA--
GO:0007602phototransduction ----
GO:0007603phototransduction, visible light TAS--
GO:0016056rhodopsin mediated signaling pathway TAS--

RCVRN for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for RCVRN (RECO)

1 HMDB Compound for RCVRN    About this table
CompoundSynonyms CAS #PubMed Ids
CalciumCa (see all 2)7440-70-2--

1 DrugBank Compound for RCVRN    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
MYRISTIC ACID-- --target--10592235

Selected Novoseek inferred chemical compound relationships for RCVRN gene (see all 11)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
guanylate 62.9 14 1672047 (3), 8961484 (1), 1422899 (1), 7678445 (1) (see all 11)
calcium 59.4 213 11980481 (7), 7876221 (7), 9392525 (6), 9315839 (5) (see all 65)
cgmp 47.8 7 1422899 (1), 7678445 (1), 8500558 (1), 18184973 (1) (see all 6)
myristic acid 34.3 4 16376289 (3)
retinoic acid 16.4 1 19671662 (1)
phospholipid 11.4 5 9315839 (2), 12023256 (1), 12767213 (1), 9759500 (1)
butyrate 1.88 4 8666979 (2), 15301870 (1)
fatty acid 1.49 3 11980481 (1), 10625670 (1), 7797536 (1)
lipid 0 11 18034895 (4), 11087403 (2), 12023256 (1), 12767213 (1) (see all 7)
potassium 0 6 18458082 (1), 17962406 (1), 11535596 (1), 10483569 (1)



RCVRN for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for RCVRN gene: 
NM_002903.2  

Unigene Cluster for RCVRN:

Recoverin
Hs.80539  [show with all ESTs]
Unigene Representative Sequence: NM_002903
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000226193(uc002gme.1) ENST00000570909

miRNA
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Block miRNA regulation of human, mouse, rat RCVRN using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate RCVRN (see all 10):
hsa-miR-3130-5p hsa-miR-3117-3p hsa-miR-3139 hsa-miR-500a hsa-miR-4267 hsa-miR-1912 hsa-miR-27b* hsa-miR-708
SwitchGear 3'UTR luciferase reporter plasmidRCVRN 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat RCVRN
Clone
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GenScript: all cDNA clones in your preferred vector: RCVRN (NM_002903)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for RCVRN
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCVRN
Primer
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OriGene qPCR primer pairs and template standards for RCVRN
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RCVRN
  QuantiTect SYBR Green Assays in human, mouse, rat RCVRN
  QuantiFast Probe-based Assays in human, mouse, rat RCVRN

Additional mRNA sequence: 

AB001838.1 AB593156.1 AK314129.1 BC001720.1 BT009838.1 DQ980605.1 DQ980606.1 DQ980608.1 
DQ980609.1 S43855.1 S45545.1 S62028.1 

4 DOTS entries:

DT.317113  DT.120914699  DT.97759914  DT.95080229 

Selected AceView cDNA sequences (see all 139):

BQ638070 BQ638143 BU732239 BQ640206 BQ638977 S43855 NM_002903 AA317683 
BQ637103 BM662530 H84778 AA364912 H30278 BQ639095 BU726690 BQ637550 
BQ639701 AA364705 AB001838 BM662098 BQ635973 BM709331 H30195 BM709178 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RCVRN expression in normal human tissues (normalized intensities)      RCVRN embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCCCTGTGCT
RCVRN Expression
About this image


RCVRN expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 4) fully expand
 
 Eye (Sensory Organs)    fully expand to see all 11 entries
         Mature Rod Cells Outer Nuclear Layer
         Optic cup structures
         Human Lens Epithelial Cells (HLEpiC)   
 
 NULL (Sensory Organs)    fully expand to see all 6 entries
         Retina-like cells
 
 Neurons
         Mature Rod Cells Outer Nuclear Layer
 
 Epithelial Cells (Uncategorized)    fully expand to see all 2 entries
         Human Lens Epithelial Cells (HLEpiC)   
RCVRN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RCVRN Protein Expression

Genevestigator expression for RCVRN

SOURCE GeneReport for Unigene cluster: Hs.80539

UniProtKB/Swiss-Prot: RECO_HUMAN, P35243
Tissue specificity: Retina and pineal gland

    Pathway & Disease-focused RT2 Profiler PCR Arrays including RCVRN: 
          Cell Lineage Identification in human mouse rat
          Terminal Differentiation Markers in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for RCVRN
OriGene qSTAR qPCR primer pairs in human, mouse for RCVRN
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RCVRN
QuantiTect SYBR Green Assays in human, mouse, rat RCVRN
QuantiFast Probe-based Assays in human, mouse, rat RCVRN
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCVRN

(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)
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This gene was present in the common ancestor of animals.

Orthologs for RCVRN gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Rcvrn1 , 5 recoverin1, 5 87.71(n)1
88.89(a)1
  11 (41.13 cM)5
196741  NM_009038.21  NP_033064.11 
 676953265 
lizard
(Anolis carolinensis)
Reptilia RCVRN6
recoverin
69(a)
1 ↔ 1
GL343279.1(1369085-1381463)
African clawed frog
(Xenopus laevis)
Amphibia Xl.263442 Xenopus laevis transcribed sequence with weak similarity more 75.41(n)    CD328078.1 
zebrafish
(Danio rerio)
Actinopterygii wufk53a032 wufk53a03 72.05(n)   335650  BC059485.1 
fruit fly
(Drosophila melanogaster)
Insecta CG76466
--
39(a)
1 ↔ 1
3L(19984987-19989012)
worm
(Caenorhabditis elegans)
Secernentea ncs-26
Protein NCS-2 (ncs-2) mRNA, complete cds
46(a)
1 ↔ 1
I(10033543-10034816) WBGene00003564


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for RCVRN gene
HPCA2  KCNIP32  KCNIP42  KCNIP12  GUCA1A2  HPCAL12  GUCA1B2  NCALD2  
KCNIP22  HPCAL42  NCS12  GUCA1C2  VSNL12  
15 SIMAP similar genes for RCVRN using alignment to 1 protein entry:     RECO_HUMAN:
DKFZp781K1922    HPCAL1    NCALD    HPCA    VSNL1    HPCAL4
KCNIP2    NCS1    KCNIP3    KCNIP1    KCNIP4    GUCA1A
GUCA1B    DKFZp686E1183    GUCA1C

RCVRN for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for RCVRN (see all 309)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1499947411,2
--9711021(+) CGAGAA/GGTTCA 1 -- us2k10--------
rs1442798901,2
--9711043(+) GCAGAC/TTCATC 1 -- us2k10--------
rs744767841,2
C,F--9800529(+) CTTTGC/TGTGGT 1 -- ds50013Minor allele frequency- T:0.25NA 124
rs604173661,2
C,F--9800530(+) TTTGCG/TTGGTC 1 -- ds50012Minor allele frequency- T:0.04WA 120
rs1177757121,2
C,F--9800585(+) CTCCTC/ACTTCT 1 -- ds50011Minor allele frequency- A:0.03NA 120
rs728222011,2
C,F--9800658(+) TGTGTT/GGGCCG 1 -- ds50011Minor allele frequency- G:0.03NA 120
rs80761851,2
C,F--9800698(+) CCCGTC/G/TCCCCG 1 -- ds50014NA WA 242
rs620644851,2
C,F--9800717(+) GCAGTG/CGTTCT 1 -- ds50013Minor allele frequency- C:0.28NA 124
rs1443231191,2
C--9800731(+) TTTAA-/ATCTCCC
TTCGTCAGGG
ATGTG
1 -- ds50010--------
rs620644861,2
--9800735(+) AATCTG/CCCTTC 1 -- ds50011Minor allele frequency- C:0.00NA 2

HapMap Linkage Disequilibrium report for RCVRN (9799637 - 9808938 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for RCVRN:    About this table    
Variant IDTypeSubtypePubMed ID
nsv516119CNV Loss19592680
nsv833360CNV Loss17160897
dgv38n68CNV Loss17160897
nsv833361CNV Gain17160897

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing RCVRN
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 179618    OMIM disorders: --

Selected diseases for RCVRN (see all 26):    About MalaCards
retinitis pigmentosa 42    autoimmune retinopathy    cancer-associated retinopathy    paraneoplastic syndromes
optic neuritis    neuritis    cone dystrophy    uveitis
retinal degeneration    thymoma    retinoblastoma    lung cancer
retinitis pigmentosa    blindness    choroiditis    sarcoidosis
malignant glioma    retinitis    neuronitis    ataxia

1 disease from the University of Copenhagen DISEASES database for RCVRN:
Retinal degeneration

RCVRN for disorders           About GeneDecksing


Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Selected Novoseek inferred disease relationships for RCVRN gene (see all 28)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
retinopathy 81.2 58 9727517 (3), 7568096 (3), 8892098 (2), 11180121 (2) (see all 40)
paraneoplastic syndromes 79.8 11 11180121 (2), 16444517 (2), 12507501 (1), 15153841 (1) (see all 8)
retinal degeneration 74 6 9727517 (2), 12507501 (1), 11074809 (1), 12935781 (1) (see all 5)
retinitis pigmentosa 61.8 8 16934219 (4), 7906682 (2), 7607661 (1), 9071225 (1)
small cell lung cancer 49.6 8 15301870 (2), 11557119 (1), 10740224 (1), 10766180 (1) (see all 7)
visual loss 48.6 2 8912538 (1), 8794409 (1)
blindness 37.4 2 9040460 (1)
lung carcinoma 34.2 2 15065647 (1), 12838519 (1)
adenocarcinoma lung 30.8 5 10766180 (2), 11222531 (1)
carcinoma non-small cell lung 29.2 2 15301870 (1), 15084384 (1)


Export disorders for RCVRN 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)
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PubMed articles for RCVRN gene, integrated from 10 sources (see all 215):
(articles sorted by number of sources associating them with RCVRN)
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  1. Isolation of human retinal genes: recoverin cDNA and gene. (PubMed id 1387789)1, 2, 3, 9 Murakami A.... Inana G. (Biochem. Biophys. Res. Commun. 1992)
  2. Recoverin in pineal organs and retinae of various vertebrate species including man. (PubMed id 1467959)1, 3, 9 Korf H.W....Klein D.C. (Brain Res. 1992)
  3. Expression of a photoreceptor protein, recoverin, as a cancer- associated retinopathy autoantigen in human lung cancer cell lines. (PubMed id 8912538)1, 2, 9 Matsubara S.... Takahara J. (Br. J. Cancer 1996)
  4. Molecular cloning and nucleotide sequence of a cDNA encoding recoverin from human retina. (PubMed id 8500558)1, 2, 9 Wiechmann A.F. and Hammarback J.A. (Exp. Eye Res. 1993)
  5. Aberrantly expressed recoverin is functionally associated with G-protein-coupled receptor kinases in cancer cell lines. (PubMed id 12507501)1, 3, 9 Miyagawa Y....Nakazawa M. (Biochem. Biophys. Res. Commun. 2003)
  6. Functional analysis of the human recoverin gene promoter. (PubMed id 12789533)1, 3, 9 Wiechmann A. and Howard E. (Curr. Eye Res. 2003)
  7. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (Invest. Ophthalmol. Vis. Sci. 2011)
  8. 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. (Genome Res. 2004)
  9. The cancer-associated retinopathy antigen is a recoverin-like protein. (PubMed id 1388144)1, 2 Thirkill C.E.... Keltner J.L. (Invest. Ophthalmol. Vis. Sci. 1992)
  10. A photoreceptor calcium binding protein is recognized by autoantibodies obtained from patients with cancer-associated retinopathy. (PubMed id 1999465)1, 2 Polans A.S.... Palczewski K. (J. Cell Biol. 1991)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5957 HGNC: 9937 AceView: RCV1 Ensembl:ENSG00000109047 euGenes: HUgn5957
ECgene: RCVRN Kegg: 5957 H-InvDB: RCVRN

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for RCVRN Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for RCVRN gene:
Search GeneIP for patents involving RCVRN

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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