| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
SEQUENCE 545 AA; 59264 MW; 971FD2F909E1E9E6 CRC64;,
SUBUNIT: Interacts with isoform 1 but not isoform 3 of SPAST. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential). ALTERNATIVE PRODUCTS: Event=Alternative splicing, Alternative initiation; Named isoforms=3; Name=RTN2-A; IsoId=O75298-1; Sequence=Displayed; Name=RTN2-B; IsoId=O75298-2; Sequence=VSP_005649; Name=RTN2-C; IsoId=O75298-3; Sequence=VSP_018870; Note=Produced by alternative initiation at Met-341 of isoform RTN2-A; TISSUE SPECIFICITY: Isoform RTN2-C is highly expressed in skeletal muscle. DISEASE: Defects in RTN2 are the cause of spastic paraplegia autosomal dominant type 12 (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. SIMILARITY: Contains 1 reticulon domain. GENE SYNONYMS:RTN2 NSPL1. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:10468,
urn:biopax:RelationshipXref:NCBI GENE_6253,
urn:biopax:RelationshipXref:REFSEQ_NP_005610,
urn:biopax:RelationshipXref:REFSEQ_NP_996783,
urn:biopax:RelationshipXref:REFSEQ_NP_996784,
urn:biopax:UnificationXref:UNIPROT_O60509,
urn:biopax:UnificationXref:UNIPROT_O75298,
urn:biopax:UnificationXref:UNIPROT_Q7RTM6,
urn:biopax:UnificationXref:UNIPROT_Q7RTN1,
urn:biopax:UnificationXref:UNIPROT_Q7RTN2
|
| biopax3:displayName |
RTN2_HUMAN
|
| biopax3:name |
NSP-like protein 1,
NSP-like protein I,
NSPLI,
Neuroendocrine-specific protein-like 1,
Neuroendocrine-specific protein-like I,
RTN2
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MGQVLPVFAHCKEAPSTASSTPDSTEGGNDDSDFRELHTAREFSEEDEEETTSQDWGTPRELTFSYIAFDGVVGSGGRRDSTARRPRPQGRSVSEPRDQHPQPSLGDSLESIPSLSQSPEPGRRGDPDTAPPSERPLEDLRLRLDHLGWVARGTGSGEDSSTSSSTPLEDEEPQEPNRLETGEAGEELDLRLRLAQPSSPEVLTPQLSPGSGTPQAGTPSPSRSRDSNSGPEEPLLEEEEKQWGPLEREPVRGQCLDSTDQLEFTVEPRLLGTAMEWLKTSLLLAVYKTVPILELSPPLWTAIGWVQRGPTPPTPVLRVLLKWAKSPRSSGVPSLSLGADMGSKVADLLYWKDTRTSGVVFTGLMVSLLCLLHFSIVSVAAHLALLLLCGTISLRVYRKVLQAVHRGDGANPFQAYLDVDLTLTREQTERLSHQITSRVVSAATQLRHFFLVEDLVDSLKLALLFYILTFVGAIFNGLTLLILGVIGLFTIPLLYRQHQAQIDQYVGLVTNQLSHIKAKIRAKIPGTGALASAAAAVSGSKAKAE
|
| biopax3:standardName |
Reticulon-2
|