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FLASH GENE

Symbol

REEP2

contributors: shn/mct - updated : 25-02-2014

HGNC name	receptor accessory protein 2
HGNC id	17975

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_016606 8 splicing 2203 NP_057690 - 252 wild type HEK293, HEK293A and PC12 cells PMID:24355597 in mouse brain, spinal cord, testes and pituitary PMID:24355597 - NR_073449 8 splicing 2284 - - - - non-coding RNA NR_073448 8 splicing 2278 - - - - non-coding RNA NM_001271803 8 splicing 2209 NP_001258732 - 254 - -

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland         Homo sapiens   neuroendocrine pituitary       Homo sapiens Nervous brain         Homo sapiens   spinal cord         Homo sapiens Reproductive male system testis       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 1–22), a single transmembrane region (aa 42–64) and a leucine-zipper region (aa 167–188)
	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