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This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegi... See more...
Aliases for RTN2 Gene
Aliases for RTN2 Gene
External Ids for RTN2 Gene
- HGNC: 10468
- Entrez Gene: 6253
- Ensembl: ENSG00000125744
- OMIM: 603183
- UniProtKB: O75298
Previous HGNC Symbols for RTN2 Gene
- SPG12
Previous GeneCards Identifiers for RTN2 Gene
- GC19M046631
- GC19M046379
- GC19M050663
- GC19M050680
- GC19M045988
- GC19M042419
Summaries for RTN2 Gene
-
This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]
GeneCards Summary for RTN2 Gene
RTN2 (Reticulon 2) is a Protein Coding gene. Diseases associated with RTN2 include Spastic Paraplegia 12, Autosomal Dominant and Spastic Paraplegia 12. An important paralog of this gene is RTN1.
Additional gene information for RTN2 Gene
- HGNC(10468)
- Entrez Gene(6253)
- Ensembl(ENSG00000125744)
- OMIM(603183)
- UniProtKB(O75298)
- Open Targets Platform(ENSG00000125744)
- Monarch Initiative
- Search for RTN2 at DataMed
- Search for RTN2 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RTN2 Gene
Genomics for RTN2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RTN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RTN2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RTN2
- Top Transcription factor binding sites by QIAGEN in the RTN2 gene promoter:
-
- CREB
- deltaCREB
Genomic Locations for RTN2 Gene
Genomic Locations for RTN2 Gene
- chr19:45,485,294-45,497,055
- (GRCh38/hg38)
- Size:
- 11,762 bases
- Orientation:
- Minus strand
- chr19:45,988,547-46,000,319
- (GRCh37/hg19)
- Size:
- 11,773 bases
- Orientation:
- Minus strand
Genomic View for RTN2 Gene
Genes around RTN2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.32 by HGNC
- 19q13.32 by Entrez Gene
- 19q13.32 by Ensembl
RTN2 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 RTN2 Gene
Proteins for RTN2 Gene
-
Protein details for RTN2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O75298-RTN2_HUMAN
- Recommended name:
- Reticulon-2
- Protein Accession:
- O75298
- O60509
- Q7RTM6
- Q7RTN1
- Q7RTN2
Protein attributes for RTN2 Gene
- Size:
- 545 amino acids
- Molecular mass:
- 59264 Da
- Quaternary structure:
-
- Interacts with isoform 1 but not isoform 3 of SPAST (PubMed:22232211). Isoform RTN2-B interacts with TMEM33 (PubMed:25612671).
- Miscellaneous:
-
- [Isoform RTN2-C]: Produced by alternative initiation at Met-341 of isoform RTN2-A.
Protein Expression for RTN2 Gene
Post-translational modifications for RTN2 Gene
Other Protein References for RTN2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-RTN2 (aa 1-100) polyclonal antibody
- Creative Biolabs Hi-Affi™ Recombinant Rabbit Anti-RTN2 Monoclonal Antibody (DS3138AB)
-
Custom Antibody ServicesOriGene Antibodies for RTN2
- Novus Biologicals Antibodies for RTN2
- Invitrogen Antibodies for RTN2 (AFLGC-RTN2)
-
Boster Bio Antibodies for RTN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for RTN2
Protein Products
-
OriGene Purified Proteins for RTN2
- Search Origene for MassSpec and Protein Over-expression Lysates for RTN2
- Origene Custom Protein Services for RTN2
- antibodies-online: Show 4 available Reticulon 2 Proteins ranked by validation data
- Compare Top Reticulon 2 Proteins
-
Quality Products:
-
Abcam proteins for RTN2
No data available for DME Specific Peptides for RTN2 Gene
Domains & Families for RTN2 Gene
Gene Families for RTN2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Suggested Antigen Peptide Sequences for RTN2 Gene
- GenScript: Design optimal peptide antigens:
-
- Reticulon 2 (Q6GMT0_HUMAN)
- Truncated RTN2-A2 (Q7RTM9_HUMAN)
- Truncated RTN2-A-D8 (Q7RTN0_HUMAN)
- Truncated RTN2-B2 (Q96CG9_HUMAN)
- Neuroendocrine-specific protein-like I (RTN2_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RTN2 Gene
Function for RTN2 Gene
Molecular function for RTN2 Gene
- GENATLAS Biochemistry:
- reticulon 2 neuroendocrine specific protein-like sequence 1,with two alternative spliced forms RTN2A,RTN2B and a truncated RTN2C form,highly expressed in skeletal muscle
Phenotypes From GWAS Catalog for RTN2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 22232211 |
Phenotypes for RTN2 Gene
- MGI mutant phenotypes for RTN2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RTN2:
Animal Models for RTN2 Gene
- MGI Knock Outs for RTN2:
-
- Rtn2 Rtn2<tm1Lex>
Animal Model Products
-
Taconic Biosciences Mouse Models for RTN2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RTN2 - Select products 50% OFF >
- * RTN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RTN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RTN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for RTN2
miRNA for RTN2 Gene
- miRTarBase miRNAs that target RTN2
-
- hsa-miR-335-5p (MIRT018584)
- hsa-miR-375 (MIRT019899)
- hsa-miR-20a-5p (MIRT050482)
- hsa-miR-125a-5p (MIRT054871)
- hsa-miR-5006-5p (MIRT495337)
- hsa-miR-7155-3p (MIRT495338)
- hsa-miR-3136-3p (MIRT495339)
- hsa-miR-4755-3p (MIRT495340)
- hsa-miR-4480 (MIRT495341)
- hsa-miR-3158-3p (MIRT495342)
- hsa-miR-6878-3p (MIRT621262)
- hsa-miR-640 (MIRT621263)
- hsa-miR-502-5p (MIRT621264)
- hsa-miR-6744-3p (MIRT621265)
- hsa-miR-3189-3p (MIRT621266)
- hsa-miR-4757-5p (MIRT621267)
- hsa-miR-212-5p (MIRT621268)
- hsa-miR-3667-3p (MIRT621269)
- hsa-miR-3934-5p (MIRT621270)
- hsa-miR-764 (MIRT621271)
- hsa-miR-125a-3p (MIRT621272)
- hsa-miR-378a-5p (MIRT633997)
- hsa-miR-6821-3p (MIRT633998)
- hsa-miR-6790-3p (MIRT633999)
- hsa-miR-3653-5p (MIRT634000)
- hsa-miR-5000-5p (MIRT650324)
- hsa-miR-1306-5p (MIRT650325)
- hsa-miR-203b-3p (MIRT650326)
- hsa-miR-7158-3p (MIRT650327)
- hsa-miR-431-5p (MIRT650328)
- hsa-miR-4680-5p (MIRT650329)
- hsa-miR-4635 (MIRT650330)
- hsa-miR-5089-5p (MIRT685868)
- hsa-miR-6807-5p (MIRT685869)
- hsa-miR-7151-3p (MIRT685870)
- hsa-miR-5095 (MIRT685871)
- hsa-miR-5589-5p (MIRT685872)
- hsa-miR-4731-5p (MIRT685873)
- hsa-miR-6506-5p (MIRT685874)
- hsa-miR-619-5p (MIRT685875)
- hsa-miR-150-5p (MIRT685876)
- hsa-miR-186-3p (MIRT685877)
- hsa-miR-520h (MIRT685878)
- hsa-miR-520g-3p (MIRT685879)
- hsa-miR-6504-3p (MIRT685880)
- hsa-miR-512-3p (MIRT685881)
- hsa-miR-4438 (MIRT685882)
- hsa-miR-520e (MIRT685883)
- hsa-miR-520d-3p (MIRT685884)
- hsa-miR-520c-3p (MIRT685885)
- hsa-miR-520b (MIRT685886)
- hsa-miR-520a-3p (MIRT685887)
- hsa-miR-373-3p (MIRT685888)
- hsa-miR-372-3p (MIRT685889)
- hsa-miR-302e (MIRT685890)
- hsa-miR-302d-3p (MIRT685891)
- hsa-miR-302c-3p (MIRT685892)
- hsa-miR-302b-3p (MIRT685893)
- hsa-miR-302a-3p (MIRT685894)
- hsa-miR-93-5p (MIRT685895)
- hsa-miR-526b-3p (MIRT685896)
- hsa-miR-519d-3p (MIRT685897)
- hsa-miR-20b-5p (MIRT685898)
- hsa-miR-17-5p (MIRT685899)
- hsa-miR-106b-5p (MIRT685900)
- hsa-miR-106a-5p (MIRT685901)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RTN2
- Browse OriGene Inhibitory RNA Products For RTN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RTN2
Clone Products
- Applied Biological Materials (abm): Clones for RTN2 - Select products 50% OFF >
- * RTN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207524
- MG220154
- MR207524
- MR207524L3
- MR207524L4
- MR220154
- MR220154L3
- MR220154L4
- RC210086
- RC210086L3
- RC210086L4
- RC217235
- RC217235L3
- RC217235L4
- RC224942
- RC224942L3
- RC224942L4
- RG210086
- RG217235
- RG224942
- RR212476
- RR212476L3
- RR212476L4
- MR207524L3V
- MR207524L4V
- MR220154L3V
- MR220154L4V
- RC210086L3V
- RC210086L4V
- RC217235L3V
- RC217235L4V
- RC224942L3V
- RC224942L4V
- RR212476L3V
- RR212476L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RTN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RTN2
Cell Line Products
-
Horizon Cell Lines for RTN2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RTN2 Gene
Localization for RTN2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RTN2 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 4 |
| nucleus | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear speckles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 22232211 |
| GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
| GO:0014802 | terminal cisterna | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for RTN2 Gene
Interacting Proteins for RTN2 Gene
GPS-Prot Interaction Network for RTN2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0046324 | regulation of glucose import | IEA | -- |
| GO:0065002 | intracellular protein transmembrane transport | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for RTN2 Gene
Transcripts for RTN2 Gene
mRNA/cDNA for RTN2 Gene
- 4 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000245923 2274 nts (view in UCSC)
- ENST00000344680 2063 nts (view in UCSC)
- ENST00000430715 1127 nts (view in UCSC)
- ENST00000587597 2212 nts (view in UCSC)
- ENST00000588036 546 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RTN2 - Select products 50% OFF >
- * RTN2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RTN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RTN2
-
Santa Cruz Biotechnology (SCBT) CRISPR for RTN2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RTN2
- Browse OriGene Inhibitory RNA Products For RTN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RTN2
Clone Products
- Applied Biological Materials (abm): Clones for RTN2 - Select products 50% OFF >
- * RTN2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG207524
- MG220154
- MR207524
- MR207524L3
- MR207524L4
- MR220154
- MR220154L3
- MR220154L4
- RC210086
- RC210086L3
- RC210086L4
- RC217235
- RC217235L3
- RC217235L4
- RC224942
- RC224942L3
- RC224942L4
- RG210086
- RG217235
- RG224942
- RR212476
- RR212476L3
- RR212476L4
- MR207524L3V
- MR207524L4V
- MR220154L3V
- MR220154L4V
- RC210086L3V
- RC210086L4V
- RC217235L3V
- RC217235L4V
- RC224942L3V
- RC224942L4V
- RR212476L3V
- RR212476L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RTN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RTN2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | · | 12c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
Relevant External Links for RTN2 Gene
- GeneLoc Exon Structure for
- RTN2
Expression for RTN2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Adipose (Muscoskeletal System)
- Visceral White Adipocytes Visceral White Adipose
-
Skeletal Muscle (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for RTN2 Gene
This gene is overexpressed in Muscle - Skeletal (x10.3).
This gene is overexpressed in Tonsil (27.7) and Platelet (7.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RTN2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RTN2
SOURCE GeneReport for Unigene cluster for RTN2 Gene:
Hs.47517mRNA Expression by UniProt/SwissProt for RTN2 Gene:
O75298-RTN2_HUMAN
Tissue specificity:
Isoform RTN2-C is highly expressed in skeletal muscle.
Evidence on tissue expression from TISSUES for RTN2 Gene
- Nervous system(4.7)
- Muscle(3.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RTN2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- head
Pelvis:
- prostate
- urethra
- urinary bladder
Limb:
- ankle
- foot
- knee
- lower limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for RTN2
-
OriGene qPCR primer pairs and template standards for RTN2
Gene Expression Assay Products
No data available for Protein tissue co-expression partners for RTN2 Gene
Orthologs for RTN2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Dog (Canis familiaris) |
Mammalia | RTN2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Rtn2 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RTN2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rtn2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | RTN2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Lizard (Anolis carolinensis) |
Reptilia | RTN2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rtn2 30 |
|
||
| Str.13645 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | rtn2a 31 |
|
OneToMany | |
| rtn2b 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Rtnl2 31 |
|
ManyToMany | |
| CG42853 31 |
|
ManyToMany | |||
| Rtnl1 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | ret-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10170 31 |
|
OneToMany |
- Species where no ortholog for RTN2 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)
- Chicken (Gallus gallus)
- Chimpanzee (Pan troglodytes)
- 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 RTN2 Gene
- ENSEMBL:
- Gene Tree for RTN2 (if available)
- TreeFam:
- Gene Tree for RTN2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RTN2: view image
Paralogs for RTN2 Gene
Variants for RTN2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RTN2 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 30324 | Pathogenic: Hereditary spastic paraplegia 12 | 45,494,906(-) | C/CG | FRAMESHIFT_VARIANT | |
| 649250 | Uncertain Significance: Spastic paraplegia | 45,489,354(-) | G/C | MISSENSE_VARIANT | |
| 653220 | Conflicting Interpretations: Spastic paraplegia; Hereditary spastic paraplegia 12 | 45,485,716(-) | C/T | MISSENSE_VARIANT | |
| 654597 | Uncertain Significance: Spastic paraplegia | 45,489,458(-) | C/T | MISSENSE_VARIANT | |
| 655272 | Uncertain Significance: Spastic paraplegia | 45,494,247(-) | G/A | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.07;
37.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RTN2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTN2 Gene
Disorders for RTN2 Gene
(25) MalaCards diseases for RTN2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 12, autosomal dominant |
|
|
| spastic paraplegia 12 |
|
|
| paraplegia |
|
|
| hereditary spastic paraplegia |
|
|
| spastic paraplegia 61, autosomal recessive |
|
|
Search RTN2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RTN2_HUMAN- Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:22232211}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for RTN2
- Genetic Association Database
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No data available for Genatlas for RTN2 Gene
Publications for RTN2 Gene
- Molecular cloning of a novel mouse gene with predominant muscle and neural expression. (PMID: 9530622) Geisler JG … Mucenski ML (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 4 23
- Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. (PMID: 22232211) Montenegro G … Züchner S (The Journal of clinical investigation 2012) 2 3 4
- cDNA cloning, genomic organization, and expression of the human RTN2 gene, a member of a gene family encoding reticulons. (PMID: 9693037) Roebroek AJ … Van de Ven WJ (Genomics 1998) 3 4 23
- Identification and characterization of TMEM33 as a reticulon-binding protein. (PMID: 25612671) Urade T … Sakisaka T (The Kobe journal of medical sciences 2014) 3 4
- A reticular rhapsody: phylogenic evolution and nomenclature of the RTN/Nogo gene family. (PMID: 12832288) Oertle T … Schwab ME (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2003) 3 4
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