Aliases for RCVRN Gene
Aliases for RCVRN Gene
External Ids for RCVRN Gene
- HGNC: 9937
- Entrez Gene: 5957
- Ensembl: ENSG00000109047
- OMIM: 179618
- UniProtKB: P35243
Previous HGNC Symbols for RCVRN Gene
- RCV1
Previous GeneCards Identifiers for RCVRN Gene
- GC17M009742
- GC17M009799
Summaries 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 Metabolism of fat-soluble vitamins and Phototransduction. 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.
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
Regulatory Elements for RCVRN Gene
Enhancers for RCVRN 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 |
|---|---|---|---|---|---|---|---|---|
| GH17G009911 | 0.7 | dbSUPER | 25.9 | -6.9 | -6932 | 2.9 | ZNF263 ZSCAN4 NFYC YBX1 ZNF311 ZBTB7B ZKSCAN1 SP1 NONO RFXANK | RCVRN MAGOH2P PIR60531 GC17P009918 |
| GH17G009928 | 1.2 | Ensembl ENCODE dbSUPER | 12 | -23.4 | -23354 | 1.0 | CTCF MNT ZNF384 RAD21 RFX5 JUND MAFF STAT3 SMC3 RCOR1 | RCVRN GC17M009941 GC17P009918 |
| GH17G009918 | 0.8 | FANTOM5 dbSUPER | 16.5 | -13.3 | -13252 | 0.4 | CTCF REST | RCVRN MYH13 GC17P009918 GC17M009941 |
| GH17G009841 | 1.2 | Ensembl ENCODE dbSUPER | 10.8 | +63.2 | 63237 | 2.1 | CTCF FOXA2 ZNF48 RAD21 POLR2A ZNF654 FOXA3 MNT NR3C1 PPARG | RCVRN GC17M009839 GC17P009848 |
| GH17G009968 | 0.9 | ENCODE dbSUPER | 11.3 | -63.7 | -63715 | 2.0 | ESRRA RFX1 BHLHE40 ZHX2 MNT DPF2 FOXA1 SREBF1 CTBP1 GATA3 | GAS7 RCVRN GC17P009965 GC17P010023 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around RCVRN on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the RCVRN gene promoter:
Regulatory Element Products
Genomic Location for RCVRN Gene
- Chromosome:
- 17
- Start:
- 9,896,320 bp from pter
- End:
- 9,905,621 bp from pter
- 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:
-
- 17p13.1 by Ensembl
- 17p13.1 by Entrez Gene
- 17p13.1 by HGNC
RCVRN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for RCVRN Gene
Post-translational modifications for RCVRN Gene
Other Protein References for RCVRN Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top RCVRN Antibody
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-
Santa Cruz Biotechnology (SCBT) Antibodies for RCVRN
Protein Products
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- antibodies-online Proteins for RCVRN: See all 29
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Assay Products
- antibodies-online Kits for RCVRN: See all 1
No data available for DME Specific Peptides for RCVRN Gene
Domains & Families for RCVRN Gene
Gene Families for RCVRN Gene
Protein Domains for RCVRN Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RCVRN Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P35243- Family:
-
- Belongs to the recoverin family.
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.
| 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 | -- |
Phenotypes for RCVRN Gene
- MGI mutant phenotypes for RCVRN:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RCVRN:
Animal Models for RCVRN Gene
- MGI Knock Outs for RCVRN:
-
- Rcvrn tm1Clma
Animal Model Products
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-
-
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-
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CRISPR Products
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miRNA for RCVRN Gene
- miRTarBase miRNAs that target RCVRN
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RCVRN Gene
Localization for RCVRN Gene
| Compartment | Confidence |
|---|---|
| cytosol | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030425 | dendrite | IEA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for RCVRN Gene
Pathways & Interactions for RCVRN Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Phototransduction | ||
| 2 | Visual Cycle in Retinal Rods | ||
| 3 | Signaling by GPCR | ||
| 4 | Metabolism of fat-soluble vitamins | ||
Pathways by source for RCVRN Gene
4 Reactome pathways for RCVRN Gene
1 KEGG pathway for RCVRN Gene
1 Qiagen pathway for RCVRN Gene
Interacting Proteins 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 | -- |
No data available for SIGNOR curated interactions for RCVRN Gene
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 :
CRISPR Products
-
OriGene CRISPR knockouts for RCVRN
-
Santa Cruz Biotechnology (SCBT) CRISPR for RCVRN
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miRNA Products
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Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for RCVRN
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Clone Products
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- VectorBuilder custom plasmid, inducible vectors for RCVRN
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RCVRN
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for RCVRN Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Eye (Sensory Organs)
- NULL (Sensory Organs)
-
Neurons
- Type2 Off Cone Bipolar Cells Inner Nuclear Layer
- Mature Rod Cells Outer Nuclear Layer
- Epithelial Cells (Uncategorized)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of RCVRN Gene:
RCVRNSOURCE GeneReport for Unigene cluster for RCVRN Gene:
Hs.80539mRNA 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
Primer Products
-
OriGene qPCR primer pairs and template standards for RCVRN
-
OriGene qPCR primer pairs for RCVRN
Orthologs for RCVRN Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RCVRN 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | RCVRN 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | RCVRN 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rcvrn 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Rcvrn 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RCVRN 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RCVRN 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | RCVRN 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rcvrn.1 34 |
|
||
| Str.13592 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.26344 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rcvrna 34 35 |
|
||
| RCVRN (4 of 4) 35 |
|
OneToMany | |||
| rcv1 35 |
|
OneToMany | |||
| RCVRN (1 of 4) 35 |
|
OneToMany | |||
| wufk53a03 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7646 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | ncs-2 35 |
|
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)
Paralogs for RCVRN Gene
Paralogs for RCVRN Gene
(15) SIMAP similar genes for RCVRN Gene using alignment to 1 proteins:
Variants for RCVRN Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000581302 | -- | 9,906,782(+) | TCAGC(A/G)GGGAG | upstream-variant-2KB | |
| rs1000697346 | -- | 9,906,988(+) | CCCCA(C/T)GGTCT | upstream-variant-2KB | |
| rs1001353468 | -- | 9,902,147(+) | TCCTC(C/G)TCCTT | intron-variant | |
| rs1001546157 | -- | 9,906,235(+) | AAATC(A/C)GAATT | upstream-variant-2KB | |
| rs1002200003 | -- | 9,902,600(+) | GAACT(G/T)GTATA | intron-variant |
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)
Relevant External Links 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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cancer-associated retinopathy |
|
|
| paraneoplastic syndromes |
|
|
| small cell cancer of the lung, somatic |
|
|
| lung cancer |
|
|
| neuroretinitis |
|
|
Search RCVRN in MalaCards
View complete list of genes associated with diseases
Relevant External Links for RCVRN
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- RCVRN
No data available for UniProtKB/Swiss-Prot and Genatlas for RCVRN Gene
Publications for RCVRN Gene
- Isolation of human retinal genes: recoverin cDNA and gene. (PMID: 1387789) Murakami A. … Inana G. (Biochem. Biophys. Res. Commun. 1992) 2 3 4 22 64
- Aberrantly expressed recoverin is functionally associated with G-protein-coupled receptor kinases in cancer cell lines. (PMID: 12507501) Miyagawa Y. … Nakazawa M. (Biochem. Biophys. Res. Commun. 2003) 2 3 22 64
- Expression of a photoreceptor protein, recoverin, as a cancer- associated retinopathy autoantigen in human lung cancer cell lines. (PMID: 8912538) Matsubara S. … Takahara J. (Br. J. Cancer 1996) 3 4 22 64
- Molecular cloning and nucleotide sequence of a cDNA encoding recoverin from human retina. (PMID: 8500558) Wiechmann A.F. … Hammarback J.A. (Exp. Eye Res. 1993) 3 4 22 64
- Recoverin in pineal organs and retinae of various vertebrate species including man. (PMID: 1467959) Korf H.W. … Klein D.C. (Brain Res. 1992) 2 3 22 64
Products for RCVRN Gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for RCVRN Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
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- (115) ProteomicsDB
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- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer