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FLASH GENE
Symbol REEP2 contributors: shn/mct - updated : 25-02-2014
HGNC name receptor accessory protein 2
HGNC id 17975
Corresponding disease
SPG72 Spastic Paraplegia 72
Location 5q31.2      Physical location : 137.774.775 - 137.782.657
Synonym name
  • receptor expression enhancing protein 2
  • receptor expression-enhancing protein 2
  • SGC32445 protein
  • chromosome 5 open reading frame 19
  • chromosome 5 open reading frame 19
  • Synonym symbol(s) C5orf19, SGC32445, LOC51308, SPG72
    DNA
    TYPE functioning gene
    STRUCTURE 7.00 kb     8 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - D5S1983 - D5S414 - REEP2 - D5S500 - D5S476 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 splicing 2203 - 252 wild type HEK293, HEK293A and PC12 cells PMID:24355597 in mouse brain, spinal cord, testes and pituitary PMID:24355597 -
    8 splicing 2284 - - - -
    non-coding RNA
    8 splicing 2278 - - - -
    non-coding RNA
    8 splicing 2209 - 254 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineadrenal gland     Homo sapiens
     neuroendocrinepituitary    Homo sapiens
    Nervousbrain     Homo sapiens
     spinal cord     Homo sapiens
    Reproductivemale systemtestis    Homo sapiens
    cell lineage an integral membrane protein expressed in taste cells
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, eye, lens, anterior segment, optic nerve, retina
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide (aa 122), a single transmembrane region (aa 4264) and a leucine-zipper region (aa 167188)
  • a short extra-cellular N-terminal domain followed by a single transmembrane and a long intracellular domain
  • HOMOLOGY
    interspecies ortholog to Reep2, Rattus norvegicus
    ortholog to Reep2, mus musculus
    ortholog to REEP2, Pan troglodytes
    Homologene
    FAMILY DP1/Yop1p family of ER-shaping proteins
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • enhances the sweetener-responsiveness of endogenously expressed sweet receptors in a chemosensory cell line
  • membrane shaping adapter protein that modulate specific G protein-coupled receptor trafficking by affecting ER cargo capacity
  • implicated in ER Morphogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • T1R2 or T1R3
  • REEP1
  • integral membrane proteins
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG72
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Downregulation of endogenously expressed REEP2 in the chemosensory enteroendocrine GLUTag cell line dramatically reduced sensitivity of endogenous sweet receptors
  • the p.Val36Glu variant has a dominant-negative effect and inhibited the normal binding of wild-type REEP2 to membranes, and the p.Phe72Tyrdecreased the affinity of the mutant protein for membranes
  • REEP2 downregulation leads to expansion of ER sheets in COS7 cells