RTN2
entrez
6253
canonical
uniprot
O75298
canonical
ensembl
ENSG00000125744
resolver
ensp
ENSP00000245923
resolver
ensp
ENSP00000345127
resolver
ensp
ENSP00000398178
resolver
genesymbol
RTN2
resolver
genesymbol_syn
NSPL1
resolver
hgnc
HGNC:10468
resolver
uniprot
A8K7F2
resolver
uniprot
O60509
resolver
uniprot
Q6GMT0
resolver
uniprot
Q7RTM6
resolver
uniprot
Q7RTN1
resolver
uniprot
Q7RTN2
resolver
uniprot_entry
A8K7F2_HUMAN
resolver
uniprot_entry
Q6GMT0_HUMAN
resolver
uniprot_entry
RTN2_HUMAN
resolver
uniprot_sec
O60509
resolver
uniprot_sec
Q7RTM6
resolver
uniprot_sec
Q7RTN1
resolver
uniprot_sec
Q7RTN2
resolver
amino_acid_sequence
MGQVLPVFAHCKEAPSTASSTPDSTEGGNDDSDFRELHTAREFSEEDEEETTSQDWGTPRELTFSYIAFDGVVGSGGRRDSTARRPRPQGRSVSEPRDQHPQPSLGDSLESIPSLSQSPEPGRRGDPDTAPPSERPLEDLRLRLDHLGWVARGTGSGEDSSTSSSTPLEDEEPQEPNRLETGEAGEELDLRLRLAQPSSPEVLTPQLSPGSGTPQAGTPSPSRSRDSNSGPEEPLLEEEEKQWGPLEREPVRGQCLDSTDQLEFTVEPRLLGTAMEWLKTSLLLAVYKTVPILELSPPLWTAIGWVQRGPTPPTPVLRVLLKWAKSPRSSGVPSLSLGADMGSKVADLLYWKDTRTSGVVFTGLMVSLLCLLHFSIVSVAAHLALLLLCGTISLRVYRKVLQAVHRGDGANPFQAYLDVDLTLTREQTERLSHQITSRVVSAATQLRHFFLVEDLVDSLKLALLFYILTFVGAIFNGLTLLILGVIGLFTIPLLYRQHQAQIDQYVGLVTNQLSHIKAKIRAKIPGTGALASAAAAVSGSKAKAE
uniprot
proteins
disease_involvement
DISEASE: 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, ECO:0000269|PubMed:35684947}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity (HMNR11) [MIM:620854]: A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMNR11 is an autosomal recessive form characterized by slowly progressive muscle weakness in the distal upper and lower limbs, lower limb spasticity and hyperreflexia, with onset in the first decade of life. Affected individuals have difficulty walking, although ambulation is retained into adulthood. Nerve conduction studies reveal axonal motor neuropathy with neurogenic changes in the electromyography. {ECO:0000269|PubMed:38527963}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 in the translocation of SLC2A4/GLUT4 from intracellular membranes to the cell membrane which facilitates the uptake of glucose into the cell (By similarity). {ECO:0000250|UniProtKB:O70622, ECO:0000250|UniProtKB:Q6WN19, ECO:0000269|PubMed:15286784}.
uniprot
proteins
mass_dalton
59264
uniprot
proteins
pubmed
12832288
uniprot
proteins
pubmed
15286784
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22232211
uniprot
proteins
pubmed
25612671
uniprot
proteins
pubmed
35684947
uniprot
proteins
pubmed
38527963
uniprot
proteins
pubmed
9530622
uniprot
proteins
pubmed
9693037
uniprot
proteins
sequence_length
545
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22232211}; Multi-pass membrane protein {ECO:0000255}. Sarcoplasmic reticulum membrane {ECO:0000250|UniProtKB:O70622}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:Q6WN19}; Multi-pass membrane protein {ECO:0000255}. Cell membrane, sarcolemma {ECO:0000250|UniProtKB:O70622}; Multi-pass membrane protein {ECO:0000255}. Cell membrane, sarcolemma, T-tubule {ECO:0000250|UniProtKB:O70622}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:O70622}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:O70622}. Note=Localizes to intermediate filaments in mononucleated myoblasts and to Z lines in mature myotubes. {ECO:0000250|UniProtKB:O70622}.
uniprot
proteins
transmembrane_region
TRANSMEM 368..388; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 463..483; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins