ID   REEP2_HUMAN             Reviewed;         252 AA.
AC   Q9BRK0; Q53EM8; Q9NYF2;
DT   20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2004, sequence version 2.
DT   17-FEB-2016, entry version 108.
DE   RecName: Full=Receptor expression-enhancing protein 2;
GN   Name=REEP2; Synonyms=C5orf19, SGC32445;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX   PubMed=15550249; DOI=10.1016/j.cell.2004.11.021;
RA   Saito H., Kubota M., Roberts R.W., Chi Q., Matsunami H.;
RT   "RTP family members induce functional expression of mammalian odorant
RT   receptors.";
RL   Cell 119:679-691(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Brain;
RA   Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.;
RL   Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Lung;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 8-252 (ISOFORM 2), AND TISSUE
RP   SPECIFICITY.
RX   PubMed=11161817; DOI=10.1006/geno.2000.6414;
RA   Lai F., Godley L.A., Joslin J., Fernald A.A., Liu J., Espinosa R. III,
RA   Zhao N., Pamintuan L., Till B.G., Larson R.A., Qian Z., Le Beau M.M.;
RT   "Transcript map and comparative analysis of the 1.5-Mb commonly
RT   deleted segment of human 5q31 in malignant myeloid diseases with a
RT   del(5q).";
RL   Genomics 71:235-245(2001).
RN   [5]
RP   TISSUE SPECIFICITY.
RX   PubMed=16720576; DOI=10.1074/jbc.M513637200;
RA   Behrens M., Bartelt J., Reichling C., Winnig M., Kuhn C., Meyerhof W.;
RT   "Members of RTP and REEP gene families influence functional bitter
RT   taste receptor expression.";
RL   J. Biol. Chem. 281:20650-20659(2006).
RN   [6]
RP   FUNCTION, VARIANTS SPG72 GLU-36 AND TYR-72, AND CHARACTERIZATION OF
RP   VARIANTS SPG72 GLU-36 AND TYR-72.
RX   PubMed=24388663; DOI=10.1016/j.ajhg.2013.12.005;
RA   Esteves T., Durr A., Mundwiller E., Loureiro J.L., Boutry M.,
RA   Gonzalez M.A., Gauthier J., El-Hachimi K.H., Depienne C., Muriel M.P.,
RA   Acosta Lebrigio R.F., Gaussen M., Noreau A., Speziani F.,
RA   Dionne-Laporte A., Deleuze J.F., Dion P., Coutinho P., Rouleau G.A.,
RA   Zuchner S., Brice A., Stevanin G., Darios F.;
RT   "Loss of association of REEP2 with membranes leads to hereditary
RT   spastic paraplegia.";
RL   Am. J. Hum. Genet. 94:268-277(2014).
CC   -!- FUNCTION: Required for endoplasmic reticulum (ER) network
CC       formation, shaping and remodeling. May enhance the cell surface
CC       expression of odorant receptors (By similarity). {ECO:0000250,
CC       ECO:0000269|PubMed:24388663}.
CC   -!- SUBUNIT: Interacts with odorant receptor proteins. {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane
CC       protein {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q9BRK0-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9BRK0-2; Sequence=VSP_016633;
CC   -!- TISSUE SPECIFICITY: Detected in brain, heart and skeletal muscle,
CC       and at low levels in placenta, kidney and pancreas
CC       (PubMed:11161817). Expressed in circumvallate papillae
CC       (PubMed:16720576). {ECO:0000269|PubMed:11161817,
CC       ECO:0000269|PubMed:16720576}.
CC   -!- DISEASE: Spastic paraplegia 72 (SPG72) [MIM:615625]: A form of
CC       spastic paraplegia, a neurodegenerative disorder characterized by
CC       a slow, gradual, progressive weakness and spasticity of the lower
CC       limbs. Rate of progression and the severity of symptoms are quite
CC       variable. Initial symptoms may include difficulty with balance,
CC       weakness and stiffness in the legs, muscle spasms, and dragging
CC       the toes when walking. In some forms of the disorder, bladder
CC       symptoms (such as incontinence) may appear, or the weakness and
CC       stiffness may spread to other parts of the body. SPG72 is a pure
CC       form of spastic paraplegia with onset of difficulty walking and
CC       stiff legs associated with hyperreflexia and extensor plantar
CC       responses in early childhood. Some patients may have pes cavus or
CC       sphincter disturbances. Cognition, speech, and ocular function are
CC       normal. SPG72 inheritance is autosomal dominant or recessive.
CC       {ECO:0000269|PubMed:24388663}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the DP1 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAF63767.1; Type=Frameshift; Positions=171; Evidence={ECO:0000305};
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DR   EMBL; AY562240; AAT70685.1; -; mRNA.
DR   EMBL; AK223611; BAD97331.1; -; mRNA.
DR   EMBL; BC006218; AAH06218.2; -; mRNA.
DR   EMBL; AF251041; AAF63767.1; ALT_FRAME; mRNA.
DR   CCDS; CCDS4205.1; -. [Q9BRK0-1]
DR   CCDS; CCDS64259.1; -. [Q9BRK0-2]
DR   RefSeq; NP_001258732.1; NM_001271803.1. [Q9BRK0-2]
DR   RefSeq; NP_057690.2; NM_016606.3. [Q9BRK0-1]
DR   UniGene; Hs.416090; -.
DR   BioGrid; 119459; 5.
DR   IntAct; Q9BRK0; 2.
DR   STRING; 9606.ENSP00000254901; -.
DR   iPTMnet; Q9BRK0; -.
DR   PhosphoSite; Q9BRK0; -.
DR   DMDM; 74732895; -.
DR   MaxQB; Q9BRK0; -.
DR   PaxDb; Q9BRK0; -.
DR   PRIDE; Q9BRK0; -.
DR   Ensembl; ENST00000254901; ENSP00000254901; ENSG00000132563. [Q9BRK0-1]
DR   Ensembl; ENST00000378339; ENSP00000367590; ENSG00000132563. [Q9BRK0-2]
DR   GeneID; 51308; -.
DR   KEGG; hsa:51308; -.
DR   UCSC; uc003lcz.4; human. [Q9BRK0-1]
DR   CTD; 51308; -.
DR   GeneCards; REEP2; -.
DR   H-InvDB; HIX0121063; -.
DR   HGNC; HGNC:17975; REEP2.
DR   HPA; HPA031813; -.
DR   MalaCards; REEP2; -.
DR   MIM; 609347; gene.
DR   MIM; 615625; phenotype.
DR   neXtProt; NX_Q9BRK0; -.
DR   Orphanet; 401849; Autosomal recessive spastic paraplegia type 72.
DR   PharmGKB; PA134920985; -.
DR   eggNOG; KOG1726; Eukaryota.
DR   eggNOG; COG5052; LUCA.
DR   GeneTree; ENSGT00550000074535; -.
DR   HOGENOM; HOG000007472; -.
DR   HOVERGEN; HBG056861; -.
DR   InParanoid; Q9BRK0; -.
DR   KO; K17338; -.
DR   OMA; IRTDPSD; -.
DR   OrthoDB; EOG71RXJX; -.
DR   PhylomeDB; Q9BRK0; -.
DR   TreeFam; TF314177; -.
DR   GeneWiki; REEP2; -.
DR   GenomeRNAi; 51308; -.
DR   NextBio; 54633; -.
DR   PRO; PR:Q9BRK0; -.
DR   Proteomes; UP000005640; Chromosome 5.
DR   Bgee; Q9BRK0; -.
DR   CleanEx; HS_REEP2; -.
DR   ExpressionAtlas; Q9BRK0; baseline and differential.
DR   Genevisible; Q9BRK0; HS.
DR   GO; GO:0005881; C:cytoplasmic microtubule; IDA:UniProtKB.
DR   GO; GO:0005783; C:endoplasmic reticulum; IMP:UniProtKB.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:Ensembl.
DR   GO; GO:0070062; C:extracellular exosome; IDA:UniProtKB.
DR   GO; GO:0005887; C:integral component of plasma membrane; IEA:Ensembl.
DR   GO; GO:0071786; P:endoplasmic reticulum tubular network organization; IMP:UniProtKB.
DR   GO; GO:0002230; P:positive regulation of defense response to virus by host; IMP:ParkinsonsUK-UCL.
DR   GO; GO:0032596; P:protein transport into membrane raft; IEA:Ensembl.
DR   GO; GO:0032386; P:regulation of intracellular transport; IEA:Ensembl.
DR   GO; GO:0050913; P:sensory perception of bitter taste; IEA:Ensembl.
DR   GO; GO:0050916; P:sensory perception of sweet taste; IEA:Ensembl.
DR   GO; GO:0098792; P:xenophagy; IMP:ParkinsonsUK-UCL.
DR   InterPro; IPR004345; TB2_DP1_HVA22.
DR   PANTHER; PTHR12300; PTHR12300; 1.
DR   Pfam; PF03134; TB2_DP1_HVA22; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; Disease mutation;
KW   Hereditary spastic paraplegia; Membrane; Neurodegeneration;
KW   Phosphoprotein; Reference proteome; Transmembrane;
KW   Transmembrane helix.
FT   CHAIN         1    252       Receptor expression-enhancing protein 2.
FT                                /FTId=PRO_0000101823.
FT   TRANSMEM      1     21       Helical. {ECO:0000255}.
FT   TRANSMEM     35     55       Helical. {ECO:0000255}.
FT   MOD_RES     150    150       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:Q8VCD6}.
FT   VAR_SEQ     139    139       K -> KGQ (in isoform 2).
FT                                {ECO:0000303|PubMed:11161817,
FT                                ECO:0000303|Ref.2}.
FT                                /FTId=VSP_016633.
FT   VARIANT      36     36       V -> E (in SPG72; abolishes REEP2
FT                                interaction with membranes; affects
FT                                correct shaping of the endoplasmic
FT                                reticulum).
FT                                {ECO:0000269|PubMed:24388663}.
FT                                /FTId=VAR_070996.
FT   VARIANT      72     72       F -> Y (in SPG72; reduces REEP2
FT                                interaction with membranes; affects
FT                                correct shaping of the endoplasmic
FT                                reticulum).
FT                                {ECO:0000269|PubMed:24388663}.
FT                                /FTId=VAR_070997.
SQ   SEQUENCE   252 AA;  28261 MW;  C2A4DD7F35E7F9C5 CRC64;
     MVSWIISRLV VLIFGTLYPA YSSYKAVKTK NVKEYVKWMM YWIVFAFFTT AETLTDIVLS
     WFPFYFELKI AFVIWLLSPY TKGSSVLYRK FVHPTLSNKE KEIDEYITQA RDKSYETMMR
     VGKRGLNLAA NAAVTAAAKG VLSEKLRSFS MQDLTLIRDE DALPLQRPDG RLRPSPGSLL
     DTIEDLGDDP ALSLRSSTNP ADSRTEASED DMGDKAPKRA KPIKKAPKAE PLASKTLKTR
     PKKKTSGGGD SA
//