Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RTN2 Gene

Aliases for RTN2 Gene

  • Reticulon 2 2 3
  • NSP-Like Protein 1 2 3 4
  • NSPL1 3 4 6
  • Neuroendocrine-Specific Protein-Like 1 2 4
  • Neuroendocrine-Specific Protein-Like I 3 4
  • NSP-Like Protein I 3 4
  • SPG12 3 6
  • NSPLI 3 4
  • Spastic Paraplegia 12 (Autosomal Dominant) 2
  • Reticulon-2 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. GO annotations related to this gene include signal transducer activity. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RTN2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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 :
  • O75298
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

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

Phenotypes for RTN2 Gene

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

Animal Models for RTN2 Gene

MGI Knock Outs for RTN2:

Animal Model Products

miRNA for RTN2 Gene

miRTarBase miRNAs that target RTN2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
cytoskeleton 1
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 22232211
GO:0014802 terminal cisterna IEA --
GO:0016021 integral component of membrane --
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 for RTN2 Gene

SuperPathways for RTN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RTN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
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 for RTN2 Gene

Transcripts for RTN2 Gene

Unigene Clusters for RTN2 Gene

Reticulon 2:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RTN2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry 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

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 (10.3).

Protein differential expression in normal tissues for RTN2 Gene

This gene is overexpressed in Tonsil (27.7) and Platelet (7.5).

Integrated Proteomics: protein expression 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 expressions with RTN2: view

In Situ Assay Products

No data available for 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

Selected 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 MAF
rs1599 -- 45,488,375(+) GTCTG(C/G)CCGGG intron-variant
rs1603 -- 45,488,378(+) TGGCC(A/C/G)GGACA intron-variant
rs12104 -- 45,485,510(-) CTCCA(A/G)GAGTC utr-variant-3-prime, nc-transcript-variant
rs1043017 -- 45,485,370(-) AGCCC(A/C)AACGC utr-variant-3-prime, nc-transcript-variant
rs1573606 -- 45,492,798(+) GCGCC(A/G)GTGGA intron-variant

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

Relevant External Links for RTN2 Gene

HapMap Linkage Disequilibrium report
RTN2
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

MalaCards: The human disease database.

Search for RTN2 Gene in MalaCards »

(3) Diseases for RTN2 Gene including...

(1) OMIM Diseases for RTN2 Gene (603183)

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.

(1) University of Copenhagen DISEASES for RTN2 Gene

Relevant External Links for RTN2

Genetic Association Database (GAD)
RTN2
Human Genome Epidemiology (HuGE) Navigator
RTN2
genes like me logo Genes that share disorders with RTN2: view

No data available for Novoseek inferred disease relationships and 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
  2. 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 4 23
  3. 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 4
  4. Nspl1, a new Z-band-associated protein. (PMID: 10672514) Geisler J.G. … Mucenski M.L. (J. Muscle Res. Cell. Motil. 1999) 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

Back to Top

Content