RTN2 Gene (Protein Coding)

Reticulon 2

GC19M045485
GIFtS:
42
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

  • Reticulon 2 2 3 5
  • NSP-Like Protein 1 2 3 4
  • Neuroendocrine-Specific Protein-Like I 3 4
  • Neuroendocrine-Specific Protein-Like 1 2 4
  • NSP-Like Protein I 3 4
  • Reticulon-2 3 4
  • NSPL1 3 4
  • NSPLI 3 4
  • Spastic Paraplegia 12 (Autosomal Dominant) 2
  • SPG12 3
  • NSP2 3

External Ids for RTN2 Gene

Previous HGNC Symbols for RTN2 Gene

  • SPG12

Previous GeneCards Identifiers for RTN2 Gene

  • GC19M046631
  • GC19M046379
  • GC19M050663
  • GC19M050680
  • GC19M045988
  • GC19M042419

Summaries for RTN2 Gene

Entrez Gene Summary 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.

Gene Wiki entry for RTN2 Gene

Additional gene information for RTN2 Gene

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 for RTN2 Gene

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 UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RTN2 gene promoter:
  • CREB
  • deltaCREB

Genomic Locations for RTN2 Gene

Genomic Locations for RTN2 Gene
chr19:45,485,288-45,497,055
(GRCh38/hg38)
Size:
11,768 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:
RTN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RTN2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RTN2 Gene

Proteins for RTN2 Gene

Products:

  1. Antibody
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  • Protein details for RTN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75298-RTN2_HUMAN
    Recommended name:
    Reticulon-2
    Protein Accession:
    O75298
    Secondary Accessions:
    • 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).

    Alternative splice isoforms for RTN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTN2 Gene

Protein Expression for RTN2 Gene

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

Post-translational modifications for RTN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RTN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for RTN2 Gene

Blocks:
InterPro:
ProtoNet:

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)
genes like me logo Genes that share domains with RTN2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RTN2 Gene

Function for RTN2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

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

Gene Ontology (GO) - Molecular Function for RTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22232211
genes like me logo Genes that share ontologies with RTN2: view
genes like me logo Genes that share phenotypes with RTN2: view

Human Phenotype Ontology for RTN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RTN2 Gene

MGI Knock Outs for RTN2:

Animal Model Products

  • Taconic Biosciences Mouse Models for RTN2

CRISPR Products

miRNA for RTN2 Gene

miRTarBase miRNAs that target RTN2

Clone Products

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.

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 RTN2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 22232211
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0014802 terminal cisterna IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RTN2: view

Pathways & Interactions for RTN2 Gene

PathCards logo

SuperPathways for RTN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046324 regulation of glucose import IEA --
GO:0065002 intracellular protein transmembrane transport IEA --
genes like me logo Genes that share ontologies with RTN2: view

No data available for Pathways by source and SIGNOR curated interactions for RTN2 Gene

Drugs & Compounds for RTN2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for RTN2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RTN2 Gene

(4) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(165) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RTN2 Gene

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
ECgene alternative splicing isoforms for
RTN2

Expression for RTN2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RTN2 Gene

mRNA expression in normal human tissues for RTN2 Gene
mRNA expression by BioGPS for RTN2 GenemRNA expression by GTEx for RTN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RTN2 Gene

This gene is overexpressed in Muscle - Skeletal (x10.3).

Protein differential expression in normal tissues from HIPED for RTN2 Gene

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



NURSA nuclear receptor signaling pathways regulating expression of RTN2 Gene:

RTN2

SOURCE GeneReport for Unigene cluster for RTN2 Gene:

Hs.47517

mRNA 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(3.1)

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
genes like me logo Genes that share expression patterns with RTN2: view

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.

Orthologs for RTN2 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
 Mammalia RTN2 33 32
  • 87.49 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Rtn2 17 33 32
  • 82.58 (n)
cow
(Bos Taurus)
 Mammalia RTN2 33 32
  • 82.37 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Rtn2 32
  • 81.82 (n)
oppossum
(Monodelphis domestica)
 Mammalia RTN2 33
  • 66 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 21 (a)
 ManyToMany
lizard
(Anolis carolinensis)
 Reptilia RTN2 33
  • 66 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia rtn2 32
  • 53.16 (n)
Str.13645 32
zebrafish
(Danio rerio)
 Actinopterygii rtn2a 33
  • 42 (a)
 OneToMany
rtn2b 33
  • 35 (a)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta Rtnl2 33
  • 21 (a)
 ManyToMany
CG42853 33
  • 20 (a)
 ManyToMany
Rtnl1 33
  • 20 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ret-1 33
  • 3 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.10170 33
  • 23 (a)
 OneToMany
Species where no ortholog for RTN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Paralogs for RTN2 Gene

(3) SIMAP similar genes for RTN2 Gene using alignment to 6 proteins:

  • RTN2_HUMAN
  • K7EMR7_HUMAN
  • Q6GMT0_HUMAN
  • Q7RTM9_HUMAN
  • Q7RTN0_HUMAN
  • Q96CG9_HUMAN
genes like me logo Genes that share paralogs with RTN2: view

Variants for RTN2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for RTN2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs117156117 benign, not specified, Spastic paraplegia 45,495,123(-) T/C coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs138355894 uncertain-significance, Spastic paraplegia 45,488,676(-) C/A/T coding_sequence_variant, missense_variant
rs139232850 benign, Spastic paraplegia, not specified 45,494,641(-) G/C coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs140494585 pathogenic, Spastic paraplegia 12, Spastic paraplegia 12, autosomal dominant (SPG12) [MIM:604805] 45,489,487(-) G/A coding_sequence_variant, missense_variant
rs143937661 likely-benign, benign, Spastic paraplegia, autosomal dominant, not provided, Spastic paraplegia 45,489,419(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for RTN2 Gene

Variant ID Type Subtype PubMed ID
nsv833848 CNV loss 17160897

Variation tolerance for RTN2 Gene

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

Human Gene Mutation Database (HGMD)
RTN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RTN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTN2 Gene

Disorders for RTN2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for RTN2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 12, autosomal dominant
  • spg12
spastic paraplegia 12
  • spastic paraplegia 12, autosomal dominant
paraplegia
  • paraplegia, lower
spastic paraplegia 61, autosomal recessive
  • spg61
hereditary spastic paraplegia 51
  • spastic paraplegia 51, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RTN2: view

No data available for Genatlas for RTN2 Gene

Publications for RTN2 Gene

  1. 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 56
  2. 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 56
  3. 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 56
  4. 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 56
  5. 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 56

ExternalLinks

View latest publications for RTN2 gene in Mastermind

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