REEP2
entrez
51308
canonical
uniprot
Q9BRK0
canonical
ensembl
ENSG00000132563
resolver
ensp
ENSP00000254901
resolver
ensp
ENSP00000367590
resolver
genesymbol
REEP2
resolver
genesymbol_syn
C5orf19
resolver
genesymbol_syn
SGC32445
resolver
hgnc
HGNC:17975
resolver
uniprot
A8K3D2
resolver
uniprot
Q53EM8
resolver
uniprot
Q9NYF2
resolver
uniprot_entry
A8K3D2_HUMAN
resolver
uniprot_entry
REEP2_HUMAN
resolver
uniprot_sec
Q53EM8
resolver
uniprot_sec
Q9NYF2
resolver
amino_acid_sequence
MVSWIISRLVVLIFGTLYPAYSSYKAVKTKNVKEYVKWMMYWIVFAFFTTAETLTDIVLSWFPFYFELKIAFVIWLLSPYTKGSSVLYRKFVHPTLSNKEKEIDEYITQARDKSYETMMRVGKRGLNLAANAAVTAAAKGVLSEKLRSFSMQDLTLIRDEDALPLQRPDGRLRPSPGSLLDTIEDLGDDPALSLRSSTNPADSRTEASEDDMGDKAPKRAKPIKKAPKAEPLASKTLKTRPKKKTSGGGDSA
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 72A, autosomal dominant (SPG72A) [MIM:615625]: 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. SPG72A is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Some patients may have pes cavus or sphincter disturbances. Cognition, speech, and ocular function are normal. {ECO:0000269|PubMed:24388663}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 72B, autosomal recessive (SPG72B) [MIM:620606]: 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. SPG72B is a pure form of spastic paraplegia with onset of difficulty walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal. {ECO:0000269|PubMed:24388663}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity). {ECO:0000250, ECO:0000269|PubMed:24388663}.
uniprot
proteins
mass_dalton
28261
uniprot
proteins
protein_family
DP1 family
uniprot
proteins
pubmed
11161817
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15550249
uniprot
proteins
pubmed
16720576
uniprot
proteins
pubmed
24388663
uniprot
proteins
sequence_length
252
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 1..21; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 35..55; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins