RTN4R Gene (Protein Coding)

Reticulon 4 Receptor

GC22M020241
GIFtS:
43
This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008] See more...

Aliases for RTN4R Gene

Aliases for RTN4R Gene

  • Reticulon 4 Receptor 2 3 5
  • NOGOR 2 3 4
  • Reticulon-4 Receptor 3 4
  • Nogo-66 Receptor 3 4
  • Nogo Receptor 3 4
  • NOGO Receptor 2
  • UNQ330/PRO526 3
  • RTN4R 5
  • NGR 3
  • NgR 4

External Ids for RTN4R Gene

Previous GeneCards Identifiers for RTN4R Gene

  • GC22M017169
  • GC22M018603
  • GC22M020234
  • GC22M003848

Summaries for RTN4R Gene

Entrez Gene Summary for RTN4R Gene

  • This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system. [provided by RefSeq, Jul 2008]

GeneCards Summary for RTN4R Gene

RTN4R (Reticulon 4 Receptor) is a Protein Coding gene. Diseases associated with RTN4R include Schizophrenia and Leukemia, Acute Lymphoblastic. Among its related pathways are p75(NTR)-mediated signaling and NgR-p75(NTR)-Mediated Signaling. An important paralog of this gene is RTN4RL1.

UniProtKB/Swiss-Prot Summary for RTN4R Gene

  • Receptor for RTN4, OMG and MAG (PubMed:12037567, PubMed:12068310, PubMed:12426574, PubMed:12089450, PubMed:16712417, PubMed:18411262, PubMed:12839991, PubMed:19052207). Functions as receptor for the sialylated gangliosides GT1b and GM1 (PubMed:18411262). Besides, functions as receptor for chondroitin sulfate proteoglycans (By similarity). Can also bind heparin (By similarity). Intracellular signaling cascades are triggered via the coreceptor NGFR (PubMed:12426574). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:16712417, PubMed:22325200). Mediates axonal growth inhibition (PubMed:12839991, PubMed:19052207, PubMed:28892071). Plays a role in regulating axon regeneration and neuronal plasticity in the adult central nervous system. Plays a role in postnatal brain development. Required for normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated via interaction with MAG. Acts in conjunction with RTN4 and LINGO1 in regulating neuronal precursor cell motility during cortical development. Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200).

Tocris Summary for RTN4R Gene

Gene Wiki entry for RTN4R Gene

Additional gene information for RTN4R Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RTN4R Gene

Genomics for RTN4R Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RTN4R 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
GH22J020267 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 +15.4 15407 2.5 ZBTB10 MNT IRF2 CTCF BHLHE40 NONO ZIC2 ZNF395 REST SIN3B RTN4R HSALNG0134120 MIR1286 lnc-RTN4R-2 CCDC188
GH22J020281 Enhancer 0.5 Ensembl dbSUPER 250.7 +1.5 1545 0.2 ZIC2 GLIS1 RTN4R lnc-RTN4R-2 HSALNG0134120 CCDC188
GH22J020282 Enhancer 0.4 Ensembl dbSUPER 250.7 +0.5 545 0.6 BHLHE40 RTN4R lnc-RTN4R-2 HSALNG0134120 CCDC188
GH22J020283 Enhancer 0.4 Ensembl 250.7 -0.7 -655 0.6 ZIC2 ZNF133 GLIS1 RTN4R lnc-RTN4R-2 ENSG00000215493 LOC440792 DGCR6L
GH22J019477 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +803.9 803946 4.2 CHD2 ZBTB10 SP1 MXD4 FEZF1 SIX5 NR2C1 MNT IKZF1 ETS1 UFD1 CDC45 DGCR8 TRMT2A RPL7AP70 DGCR11 LINC01311 RANBP1 ENSG00000273300 ENSG00000215493
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RTN4R on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RTN4R

Top Transcription factor binding sites by QIAGEN in the RTN4R gene promoter:
  • AREB6
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for RTN4R Gene

Latest Assembly
chr22:20,241,415-20,283,246
(GRCh38/hg38)
Size:
41,832 bases
Orientation:
Minus strand

Previous Assembly
chr22:20,228,938-20,255,841
(GRCh37/hg19 by Entrez Gene)
Size:
26,904 bases
Orientation:
Minus strand

chr22:20,228,938-20,270,769
(GRCh37/hg19 by Ensembl)
Size:
41,832 bases
Orientation:
Minus strand

Genomic View for RTN4R Gene

Genes around RTN4R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RTN4R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RTN4R Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RTN4R Gene

Proteins for RTN4R Gene

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  • Protein details for RTN4R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZR6-RTN4R_HUMAN
    Recommended name:
    Reticulon-4 receptor
    Protein Accession:
    Q9BZR6
    Secondary Accessions:
    • D3DX28

    Protein attributes for RTN4R Gene

    Size:
    473 amino acids
    Molecular mass:
    50708 Da
    Quaternary structure:
    • Homodimer (PubMed:18411262). Interacts with MAG (PubMed:12089450, PubMed:12839991, PubMed:18411262, PubMed:19052207). Interacts with RTN4 (PubMed:12839991, PubMed:19052207). Interacts with NGFR (PubMed:12426574, PubMed:18411262, PubMed:19052207). Interacts with LINGO1 (PubMed:14966521, PubMed:19052207). Interacts with KIAA0319L (PubMed:20697954). Interacts with OLFM1; this inhibits interaction with LINGO1 and NGFR (By similarity). Interacts with OMG (PubMed:12068310, PubMed:12839991, PubMed:19052207).

    Three dimensional structures from OCA and Proteopedia for RTN4R Gene

neXtProt entry for RTN4R Gene

Protein Expression for RTN4R Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RTN4R Gene

  • N-glycosylated. O-glycosylated. Contains terminal sialic acid groups on its glycan chains.
  • Glycosylation at Asn82, Asn179, and Asn372
  • Modification sites at PhosphoSitePlus

Other Protein References for RTN4R Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RTN4R Gene

Domains & Families for RTN4R Gene

Gene Families for RTN4R Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for RTN4R Gene

InterPro:
Blocks:
  • Cysteine-rich flanking region, N-terminal
  • Leucine-rich repeat signature
  • Cysteine-rich flanking region, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for RTN4R Gene

GenScript: Design optimal peptide antigens:
  • Nogo-66 receptor (RTN4R_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BZR6

UniProtKB/Swiss-Prot:

RTN4R_HUMAN :
  • Belongs to the Nogo receptor family.
Family:
  • Belongs to the Nogo receptor family.
genes like me logo Genes that share domains with RTN4R: view

Function for RTN4R Gene

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  6. Cell Lines for research

Molecular function for RTN4R Gene

UniProtKB/Swiss-Prot Function:
Receptor for RTN4, OMG and MAG (PubMed:12037567, PubMed:12068310, PubMed:12426574, PubMed:12089450, PubMed:16712417, PubMed:18411262, PubMed:12839991, PubMed:19052207). Functions as receptor for the sialylated gangliosides GT1b and GM1 (PubMed:18411262). Besides, functions as receptor for chondroitin sulfate proteoglycans (By similarity). Can also bind heparin (By similarity). Intracellular signaling cascades are triggered via the coreceptor NGFR (PubMed:12426574). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:16712417, PubMed:22325200). Mediates axonal growth inhibition (PubMed:12839991, PubMed:19052207, PubMed:28892071). Plays a role in regulating axon regeneration and neuronal plasticity in the adult central nervous system. Plays a role in postnatal brain development. Required for normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated via interaction with MAG. Acts in conjunction with RTN4 and LINGO1 in regulating neuronal precursor cell motility during cortical development. Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200).

Phenotypes From GWAS Catalog for RTN4R Gene

Gene Ontology (GO) - Molecular Function for RTN4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 20463223
GO:0008201 heparin binding IEA,ISS --
GO:0008289 lipid binding IEA --
GO:0035374 chondroitin sulfate binding IEA,ISS --
GO:0038023 signaling receptor activity IEA,NAS 11201742
genes like me logo Genes that share ontologies with RTN4R: view
genes like me logo Genes that share phenotypes with RTN4R: view

Human Phenotype Ontology for RTN4R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RTN4R Gene

MGI Knock Outs for RTN4R:

Animal Models for research

  • Taconic Biosciences Mouse Models for RTN4R

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RTN4R

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RTN4R Gene

Localization for RTN4R Gene

Subcellular locations from UniProtKB/Swiss-Prot for RTN4R Gene

Cell membrane. Lipid-anchor, GPI-anchor. Membrane raft. Cell projection, dendrite. Cell projection, axon. Perikaryon. Note=Detected along dendrites and axons, close to synapses, but clearly excluded from synapses. {ECO:0000250 UniProtKB:Q99PI8}.

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 RTN4R gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 4
cytoskeleton 3
mitochondrion 2
nucleus 2
endosome 2
cytosol 2
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (3)
  • Plasma membrane (3)
  • Actin filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RTN4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IEA,ISS --
GO:0009986 cell surface IEA,IDA 16712417
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RTN4R: view

Pathways & Interactions for RTN4R Gene

PathCards logo

SuperPathways for RTN4R Gene

SuperPathway Contained pathways
1 Guidance Cues and Growth Cone Motility
Guidance Cues and Growth Cone Motility
-
2 NgR-p75(NTR)-Mediated Signaling
NgR-p75(NTR)-Mediated Signaling
-
3 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
Development MAG-dependent inhibition of neurite outgrowth
.42
4 p75(NTR)-mediated signaling
p75(NTR)-mediated signaling
-
5 Spinal Cord Injury
Spinal Cord Injury
-
genes like me logo Genes that share pathways with RTN4R: view

Pathways by source for RTN4R Gene

2 BioSystems pathways for RTN4R Gene
1 GeneGo (Thomson Reuters) pathway for RTN4R Gene
  • Development MAG-dependent inhibition of neurite outgrowth
2 Qiagen pathways for RTN4R Gene
  • Guidance Cues and Growth Cone Motility
  • NgR-p75(NTR)-Mediated Signaling

Gene Ontology (GO) - Biological Process for RTN4R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007166 cell surface receptor signaling pathway IEA,ISS --
GO:0007409 axonogenesis IEA --
GO:0010977 negative regulation of neuron projection development IEA,ISS --
GO:0022038 corpus callosum development IEA,ISS --
GO:0023041 neuronal signal transduction IEA,ISS --
genes like me logo Genes that share ontologies with RTN4R: view

No data available for SIGNOR curated interactions for RTN4R Gene

Drugs & Compounds for RTN4R Gene

Products:

  1. Drug products for research

(3) Drugs for RTN4R Gene - From: Tocris and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MOG (35-55) Pharma Minor component of CNS myelin, Encephalitogenic myelin oligodendrocyte glycoprotein fragment 0

(4) Additional Compounds for RTN4R Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
B2
115687-05-3
Nogo-66 (1-40)
475221-20-6
PLP (139-151)
122018-58-0
TCS PrP Inhibitor 13
34320-83-7

(5) Tocris Compounds for RTN4R Gene

Compound Action Cas Number
B2 Promotes inclusion formation in Huntington's and Parkinson's diseases 115687-05-3
MOG (35-55) Encephalitogenic myelin oligodendrocyte glycoprotein fragment 149635-73-4
Nogo-66 (1-40) Competitive antagonist for Nogo-66 receptor; promotes neuron regeneration 475221-20-6
PLP (139-151) Encephalitogenic myelin proteolipid fragment 122018-58-0
TCS PrP Inhibitor 13 Antiprion agent; potently inhibits PrP-res accumulation 34320-83-7
genes like me logo Genes that share compounds with RTN4R: view

Transcripts for RTN4R Gene

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mRNA/cDNA for RTN4R Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RTN4R

Alternative Splicing Database (ASD) splice patterns (SP) for RTN4R Gene

No ASD Table

Relevant External Links for RTN4R Gene

GeneLoc Exon Structure for
RTN4R

Expression for RTN4R Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RTN4R Gene

mRNA expression in normal human tissues for RTN4R Gene
mRNA expression by GTEx for RTN4R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Ovary (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for RTN4R Gene

This gene is overexpressed in Brain - Cerebellum (x7.3), Brain - Cerebellar Hemisphere (x6.8), Brain - Cortex (x6.8), Brain - Frontal Cortex (BA9) (x5.1), and Brain - Anterior cingulate cortex (BA24) (x4.3).

Protein differential expression in normal tissues from HIPED for RTN4R Gene

This gene is overexpressed in Cerebrospinal fluid (54.3) and Fetal Brain (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RTN4R Gene



Protein tissue co-expression partners for RTN4R Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RTN4R

SOURCE GeneReport for Unigene cluster for RTN4R Gene:

Hs.30868

mRNA Expression by UniProt/SwissProt for RTN4R Gene:

Q9BZR6-RTN4R_HUMAN
Tissue specificity: Widespread in the brain but highest levels in the gray matter. Low levels in heart and kidney; not expressed in oligodendrocytes (white matter).

Evidence on tissue expression from TISSUES for RTN4R Gene

  • Nervous system(4.7)
  • Lung(4.3)
  • Intestine(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with RTN4R: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RTN4R Gene

Orthologs for RTN4R Gene

This gene was present in the common ancestor of animals.

Orthologs for RTN4R Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RTN4R 30 31
  • 99.28 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RTN4R 30
  • 85.61 (n)
Cow
(Bos Taurus)
 Mammalia RTN4R 30 31
  • 84.11 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rtn4r 30 17 31
  • 82.66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rtn4r 30
  • 82.52 (n)
Oppossum
(Monodelphis domestica)
 Mammalia RTN4R 31
  • 57 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 26 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves RTN4R 30 31
  • 59.74 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RTN4R 31
  • 45 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100485966 30
  • 49.65 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100332374 30
  • 54.34 (n)
rtn4r 31 31
  • 43 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta CG1504 31
  • 20 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea lron-12 31
  • 16 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 26 (a)
 OneToMany
Species where no ortholog for RTN4R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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 RTN4R Gene

ENSEMBL:
Gene Tree for RTN4R (if available)
TreeFam:
Gene Tree for RTN4R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RTN4R: view image

Paralogs for RTN4R Gene

Paralogs for RTN4R Gene

(3) SIMAP similar genes for RTN4R Gene using alignment to 3 proteins:

  • RTN4R_HUMAN
  • H7C0V4_HUMAN
  • H7C215_HUMAN
genes like me logo Genes that share paralogs with RTN4R: view

Variants for RTN4R Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RTN4R Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1432033565 Schizophrenia (SCZD) [MIM:181500] p.Arg292His
rs200119628 Schizophrenia (SCZD) [MIM:181500] p.Arg399Trp
rs74315508 Risk Factor: Schizophrenia, susceptibility to. Schizophrenia (SCZD) [MIM:181500] 20,242,778(-) G/Ap.Arg119Trp
NM_023004.6(RTN4R):c.355C>T (p.Arg119Trp) 		MISSENSE
rs74315509 Risk Factor: Schizophrenia, susceptibility to. Schizophrenia (SCZD) [MIM:181500] 20,242,546(-) C/Tp.Arg196His
NM_023004.6(RTN4R):c.587G>A (p.Arg196His) 		MISSENSE
rs748655075 Schizophrenia (SCZD) [MIM:181500] p.Arg377Trp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RTN4R Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RTN4R Gene

Variant ID Type Subtype PubMed ID
dgv4480n100 CNV gain 25217958
dgv4481n100 CNV gain 25217958
dgv4482n100 CNV gain 25217958
dgv726n67 CNV gain 20364138
dgv7983n54 CNV gain 21841781
dgv7986n54 CNV loss 21841781
esv1003446 CNV deletion 20482838
esv2758825 CNV loss 17122850
esv3310500 CNV novel sequence insertion 20981092
esv3441142 CNV duplication 20981092
esv3893434 CNV gain 25118596
esv3893435 CNV gain 25118596
nsv1060294 CNV gain 25217958
nsv1064701 CNV gain 25217958
nsv1117315 CNV tandem duplication 24896259
nsv471183 CNV loss 18288195
nsv828938 CNV gain 20364138
nsv828939 CNV loss 20364138
nsv834134 CNV loss 17160897
nsv953027 CNV deletion 24416366

Variation tolerance for RTN4R Gene

Residual Variation Intolerance Score: 58.9% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RTN4R Gene

Human Gene Mutation Database (HGMD)
RTN4R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RTN4R

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTN4R Gene

Disorders for RTN4R Gene

MalaCards: The human disease database

(12) MalaCards diseases for RTN4R Gene - From: LNC, OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
leukemia, acute lymphoblastic
  • all
spinal cord injury
  • spinal cord injuries
basidiobolomycosis
  • infection by basidiobolus
psychotic disorder
  • mental or behavioural disorder
- elite association - COSMIC cancer census association via MalaCards
Search RTN4R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RTN4R_HUMAN
  • Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269 PubMed:15532024, ECO:0000269 PubMed:19052207, ECO:0000269 PubMed:28892071}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for RTN4R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RTN4R: view

No data available for Genatlas for RTN4R Gene

Publications for RTN4R Gene

  1. Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia. (PMID: 15532024) Sinibaldi L … Dallapiccola B (Human mutation 2004) 3 4 23 41 74
  2. Genetic variants of Nogo-66 receptor with possible association to schizophrenia block myelin inhibition of axon growth. (PMID: 19052207) Budel S … Strittmatter SM (The Journal of neuroscience : the official journal of the Society for Neuroscience 2008) 3 4 23 41
  3. Identification of a receptor mediating Nogo-66 inhibition of axonal regeneration. (PMID: 11201742) Fournier AE … Strittmatter SM (Nature 2001) 2 3 4 23
  4. No association between the genetic polymorphisms in the RTN4R gene and schizophrenia in the Chinese population. (PMID: 16897606) Meng J … He L (Journal of neural transmission (Vienna, Austria : 1996) 2007) 3 23 41
  5. A high-content screening assay for the Nogo receptor based on cellular Rho activation. (PMID: 16712417) Teusch N … Kiefer C (Assay and drug development technologies 2006) 3 4 23

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