• Gene id: 6253

Gene Summary

• Gene Symbol: RTN2   Gene   UCSC   Ensembl
• Aliases: NSP2, NSPL1, NSPLI, SPG12
• Gene name: reticulon 2
• Alternate names: reticulon-2, NSP-like protein 1, NSP-like protein I, neuroendocrine-specific protein-like I,
• Gene location: 19q13.32 (45497046: 45485293)     Exons: 11     NC_000019.10
• Gene summary(Entrez): 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 di
• OMIM: 601615

Protein Summary

• Protein general information: O75298  
  • Name: Reticulon 2 (Neuroendocrine specific protein like 1) (NSP like protein 1) (Neuroendocrine specific protein like I) (NSP like protein I) (NSPLI)
  • Length: 545  
  • Mass: 59264
  • Tissue specificity: Isoform RTN2-C is highly expressed in skeletal muscle. {ECO
• Sequence:

  MGQVLPVFAHCKEAPSTASSTPDSTEGGNDDSDFRELHTAREFSEEDEEETTSQDWGTPRELTFSYIAFDGVVGS
  GGRRDSTARRPRPQGRSVSEPRDQHPQPSLGDSLESIPSLSQSPEPGRRGDPDTAPPSERPLEDLRLRLDHLGWV
  ARGTGSGEDSSTSSSTPLEDEEPQEPNRLETGEAGEELDLRLRLAQPSSPEVLTPQLSPGSGTPQAGTPSPSRSR
  DSNSGPEEPLLEEEEKQWGPLEREPVRGQCLDSTDQLEFTVEPRLLGTAMEWLKTSLLLAVYKTVPILELSPPLW
  TAIGWVQRGPTPPTPVLRVLLKWAKSPRSSGVPSLSLGADMGSKVADLLYWKDTRTSGVVFTGLMVSLLCLLHFS
  IVSVAAHLALLLLCGTISLRVYRKVLQAVHRGDGANPFQAYLDVDLTLTREQTERLSHQITSRVVSAATQLRHFF
  LVEDLVDSLKLALLFYILTFVGAIFNGLTLLILGVIGLFTIPLLYRQHQAQIDQYVGLVTNQLSHIKAKIRAKIP
  GTGALASAAAAVSGSKAKAE

• Structural information:
  • Protein Domains: (345..54-)
    (/note="Reticulon-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00170"-)
  • Interpro: IPR003388  
  • Prosite: PS50845
  • STRING: ENSP00000245923
• Other Databases: GeneCards:  RTN2  Malacards:  RTN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0046324	regulation of glucose import	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0014802	terminal cisterna	IEA	cellular component
GO:0065002	intracellular protein transmembrane transport	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq