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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]
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.
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 |
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 |
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 | -- |
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 | ||
5 | Spinal Cord Injury |
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 | -- |
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 |
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 |
|
|
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RTN4R 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | RTN4R 30 |
|
||
Cow (Bos Taurus) |
Mammalia | RTN4R 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rtn4r 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rtn4r 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | RTN4R 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | RTN4R 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RTN4R 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485966 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100332374 30 |
|
||
rtn4r 31 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1504 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | lron-12 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
schizophrenia |
|
|
leukemia, acute lymphoblastic |
|
|
spinal cord injury |
|
|
basidiobolomycosis |
|
|
psychotic disorder |
|
|