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RCVRN Gene

protein-coding GIFtS: 59
GCID: GC17M009799

Recoverin

(Previous symbol: RCV1)

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(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 plasmid: RCVRN 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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RCVRN Antibody Products:

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RCVRN Assay Products:

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	GenScript Custom Assay Services for RCVRN
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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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--
GO:0008048	calcium sensitive guanylate cyclase activator activity	TAS	1672047

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 Rcvrn^tm1Clma 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 plasmid: RCVRN 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
Products:

DNA2.0 Custom Protein Engineering Service for RCVRN

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		Sino Biological Human cDNA Clone for RCVRN
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		Browse ESI BIO Cell Lines and PureStem Progenitors for RCVRN

In Situ Assay
Products:

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:

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030425	dendrite	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

SuperPath

Contained pathways About

The phototransduction cascade

	The phototransduction cascade	0.51			Inactivation, recovery and regulation of the phototransduction cascade	0.49
	Phototransduction	0.51

Diseases associated with visual transduction

Visual phototransduction

0.44

Diseases associated with visual transduction

0.43

Signaling by GPCR

Signal Transduction

0.58

Disease

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 (P35243^{2, 3} ENSP00000226193⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PQBP1	O60828²^,³, ENSP00000365747⁴	MINT-2862654 I2D: score=3 STRING: ENSP00000365747
CAV1	Q03135³, ENSP00000339191⁴	I2D: score=3 STRING: ENSP00000339191
GRK6	P43250³, ENSP00000377204⁴	I2D: score=3 STRING: ENSP00000377204
GRK1	Q15835³, ENSP00000334876⁴	I2D: score=2 STRING: ENSP00000334876
ADRBK1	P25098³, ENSP00000312262⁴	I2D: score=2 STRING: ENSP00000312262

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	TAS	1672047
GO:0007601	visual perception	IEA	--
GO:0007602	phototransduction	--	--
GO:0007603	phototransduction, visible light	TAS	--
GO:0016056	rhodopsin 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

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

1 DrugBank Compound for RCVRN About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed 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 Products:		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 plasmid: RCVRN 3' UTR sequence

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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
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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

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 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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCCCTGTGCT

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

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
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		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	Rcvrn^{1 , 5}	recoverin^{1, 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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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs149994741^1,2		--	9711021(+)	`CGAGAA/GGTTCA`	1	--	us2k¹		0	--	--	--	--
rs144279890^1,2		--	9711043(+)	`GCAGAC/TTCATC`	1	--	us2k¹		0	--	--	--	--
rs74476784^1,2	C,F	--	9800529(+)	`CTTTGC/TGTGGT`	1	--	ds500¹		3		NA	124
rs60417366^1,2	C,F	--	9800530(+)	`TTTGCG/TTGGTC`	1	--	ds500¹		2		WA	120
rs117775712^1,2	C,F	--	9800585(+)	`CTCCTC/ACTTCT`	1	--	ds500¹		1		NA	120
rs72822201^1,2	C,F	--	9800658(+)	`TGTGTT/GGGCCG`	1	--	ds500¹		1		NA	120
rs8076185^1,2	C,F	--	9800698(+)	`CCCGTC/G/TCCCCG`	1	--	ds500¹		4		NA WA	242
rs62064485^1,2	C,F	--	9800717(+)	`GCAGTG/CGTTCT`	1	--	ds500¹		3		NA	124
rs144323119^1,2	C	--	9800731(+)	`TTTAA-/ATCTCCC TTCGTCAGGGATGTG`	1	--	ds500¹		0	--	--	--	--
rs62064486^1,2		--	9800735(+)	`AATCTG/CCCTTC`	1	--	ds500¹		1		NA	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 ID	Type	Subtype	PubMed ID
nsv516119	CNV	Loss	19592680
nsv833360	CNV	Loss	17160897
dgv38n68	CNV	Loss	17160897
nsv833361	CNV	Gain	17160897

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):
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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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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)
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)
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)
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)
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)
Functional analysis of the human recoverin gene promoter. (PubMed id 12789533)^{1, 3, 9} Wiechmann A. and Howard E. (Curr. Eye Res. 2003)
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)
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)
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)
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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		AND	OR
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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Name	Description
PharmGKB entry for RCVRN	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RCVRN gene
(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:
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