RTN2 (reticulon 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6253
Gene name Gene Name - the full gene name approved by the HGNC.
Reticulon 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RTN2
Synonyms (NCBI Gene) Gene synonyms aliases
HMNR11, NSP2, NSPL1, NSPLI, SPG12
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an importa
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs140494585 G>A Pathogenic Missense variant, coding sequence variant
rs763387041 ->G Pathogenic Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs768449676 A>- Pathogenic Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, intron variant
rs1568624823 ATAGCTGTTCC>- Likely-pathogenic Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, splice acceptor variant
rs1568625691 G>A Likely-pathogenic Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(207)
miRTarBase ID miRNA Experiments Reference
MIRT018584 hsa-miR-335-5p Microarray 18185580
MIRT019899 hsa-miR-375 Microarray 20215506
MIRT050482 hsa-miR-20a-5p CLASH 23622248
MIRT054871 hsa-miR-125a-5p qRT-PCR 24675842
MIRT685901 hsa-miR-106a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(36)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15286784, 22232211, 25612671, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IDA 22232211
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603183 10468 ENSG00000125744
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID O75298
Protein name Reticulon-2 (Neuroendocrine-specific protein-like 1) (NSP-like protein 1) (Neuroendocrine-specific protein-like I) (NSP-like protein I) (NSPLI)
Protein function Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity (PubMed:15286784). Enhances trafficking of the glutamate transporter SLC1A1/EAAC1 from the endoplasmic reticulum to the cell surface (By similarity). Plays a role
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02453 Reticulon 345 → 509 Reticulon Family
Tissue specificity TISSUE SPECIFICITY: [Isoform RTN2-C]: Highly expressed in skeletal muscle. {ECO:0000269|PubMed:9693037}.
Sequence 
MGQVLPVFAHCKEAPSTASSTPDSTEGGNDDSDFRELHTAREFSEEDEEETTSQDWGTPR
ELTFSYIAFDGVVGSGGRRDSTARRPRPQGRSVSEPRDQHPQPSLGDSLESIPSLSQSPE
PGRRGDPDTAPPSERPLEDLRLRLDHLGWVARGTGSGEDSSTSSSTPLEDEEPQEPNRLE
TGEAGEELDLRLRLAQPSSPEVLTPQLSPGSGTPQAGTPSPSRSRDSNSGPEEPLLEEEE
KQWGPLEREPVRGQCLDSTDQLEFTVEPRLLGTAMEWLKTSLLLAVYKTVPILELSPPLW
TAIGWVQRGPTPPTPVLRVLLKWAKSPRSSGVPSLSLGADMGSKVADLLYWKDTRTSGVV
FTGLMVSLLCLLHFSIVSVAAHLALLLLCGTISLRVYRKVLQAVHRGDGANPFQAYLDVD
LTLTREQTERLSHQITSRVVSAATQLRHFFLVEDLVDSLKLALLFYILTFVGAIFNGLTL
LILGVIGLFTIPLLYRQHQAQIDQYVGLVTNQLSHIKAKIRAKIPGTGALASAAAAVSGS
KAKAE
Sequence length 545
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 12 rs763387041 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Spastic paraplegia Spastic paraplegia, autosomal dominant N/A N/A ClinVar
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Lymphatic Metastasis Stimulate 35428758
Motor Neuron Disease Associate 22232211
Muscle Hypertonia Associate 35684947
Neoplasm Metastasis Stimulate 35428758
Neoplasms Stimulate 35428758
Neoplasms Associate 36177918
Ovarian Neoplasms Stimulate 36177918
Seizures Associate 35684947
Signs and Symptoms Associate 35684947
Spastic paraplegia 12 autosomal dominant Associate 22232211, 35684947