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Aliases for RTN2 Gene

Aliases for RTN2 Gene

  • Reticulon 2 2 3 5
  • NSP-Like Protein 1 2 3 4
  • Neuroendocrine-Specific Protein-Like 1 2 4
  • Neuroendocrine-Specific Protein-Like I 3 4
  • NSP-Like Protein I 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

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RTN2 Gene

Genomics for RTN2 Gene

Regulatory Elements for RTN2 Gene

Enhancers for RTN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RTN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RTN2 Gene

Chromosome:
19
Start:
45,485,288 bp from pter
End:
45,497,061 bp from pter
Size:
11,774 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 StructureGene 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
    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.

    Alternative splice isoforms for RTN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTN2 Gene

Proteomics data for RTN2 Gene at MOPED

Post-translational modifications for RTN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RTN2 Gene

No data available for DME Specific Peptides for RTN2 Gene

Domains & Families for RTN2 Gene

Protein Domains for RTN2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75298

UniProtKB/Swiss-Prot:

RTN2_HUMAN :
  • Contains 1 reticulon domain.
Domain:
  • Contains 1 reticulon domain.
genes like me logo Genes that share domains with RTN2: view

No data available for Gene Families 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
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

miRNA for RTN2 Gene

miRTarBase miRNAs that target RTN2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for RTN2 Gene COMPARTMENTS Subcellular localization image for RTN2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane NAS 9693037
GO:0030315 T-tubule IEA --
genes like me logo Genes that share ontologies with RTN2: view

Pathways & Interactions for RTN2 Gene

SuperPathways for RTN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RTN2 Gene

None

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

Drugs & Compounds for RTN2 Gene

No Compound Related Data Available

Transcripts for RTN2 Gene

Unigene Clusters for RTN2 Gene

Reticulon 2:
Representative Sequences:

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

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for RTN2 Gene



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

Primer 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.

Orthologs for RTN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RTN2 35
  • 82.37 (n)
  • 80.6 (a)
RTN2 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RTN2 35
  • 87.49 (n)
  • 86.37 (a)
RTN2 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rtn2 35
  • 82.58 (n)
  • 83.44 (a)
Rtn2 16
Rtn2 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rtn2 35
  • 81.82 (n)
  • 82.76 (a)
oppossum
(Monodelphis domestica)
Mammalia RTN2 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 21 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia RTN2 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rtn2 35
  • 53.16 (n)
  • 45.81 (a)
Str.13645 35
zebrafish
(Danio rerio)
Actinopterygii rtn2a 36
  • 42 (a)
OneToMany
rtn2b 36
  • 35 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42853 36
  • 20 (a)
ManyToMany
Rtnl1 36
  • 20 (a)
ManyToMany
Rtnl2 36
  • 21 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ret-1 36
  • 3 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10170 36
  • 23 (a)
OneToMany
Species with no ortholog for RTN2:
  • 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)

Paralogs for RTN2 Gene

Paralogs for RTN2 Gene

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

genes like me logo Genes that share paralogs with RTN2: view

Variants for RTN2 Gene

Sequence variations from dbSNP and Humsavar for RTN2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs35461805 - 45,488,954(+) GCTCC(C/T)GAGTC reference, missense
rs140494585 Spastic paraplegia 12, autosomal dominant (SPG12) 45,489,487(+) GGAGG(A/G)AGACC reference, missense
rs66484630 -- 45,486,712(+) TGTTC(-/T)TTTTT intron-variant
rs71173171 -- 45,486,749(+) TTTTT(-/T)CCTGA intron-variant
rs1043017 -- 45,485,370(-) AGCCC(A/C)AACGC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv912154 CNV Loss 21882294
nsv833848 CNV Loss 17160897
nsv912155 CNV Loss 21882294
nsv912156 CNV Loss 21882294
dgv3953n71 CNV Loss 21882294

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)

Relevant External Links for RTN2 Gene

Human Gene Mutation Database (HGMD)
RTN2

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

Disorders for RTN2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RTN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 12, autosomal dominant
  • spg12
spastic paraplegia 12
  • spastic paraplegia 12, autosomal dominant
paraplegia
  • paraplegia, lower
- 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.

Relevant External Links for RTN2

Genetic Association Database (GAD)
RTN2
Human Genome Epidemiology (HuGE) Navigator
RTN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RTN2
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 J.G. … Mucenski M.L. (Mamm. Genome 1998) 2 3 4 23 67
  2. Mutations in the ER-shaping protein reticulon 2 cause the axon- degenerative disorder hereditary spastic paraplegia type 12. (PMID: 22232211) Montenegro G. … Zuchner S. (J. Clin. Invest. 2012) 2 3
  3. Nspl1, a new Z-band-associated protein. (PMID: 10672514) Geisler J.G. … Mucenski M.L. (J. Muscle Res. Cell. Motil. 1999) 3 23
  4. cDNA cloning, genomic organization, and expression of the human RTN2 gene, a member of a gene family encoding reticulons. (PMID: 9693037) Roebroek A.J.M. … Van de Ven W.J.M. (Genomics 1998) 3 23
  5. Detailed comparative map of human chromosome 19q and related regions of the mouse genome. (PMID: 8812484) Stubbs L. … Ashworth L.K. (Genomics 1996) 2 3

Products for RTN2 Gene

Sources for RTN2 Gene

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