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Protein

Receptor expression-enhancing protein 2

Gene

REEP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Receptor expression-enhancing protein 2
Gene namesi
Name:REEP2
Synonyms:C5orf19, SGC32445
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000132563.15
HGNCiHGNC:17975 REEP2
MIMi609347 gene
neXtProtiNX_Q9BRK0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1 – 21HelicalSequence analysisAdd BLAST21
Transmembranei35 – 55HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 72 (SPG72)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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. SPG72 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. SPG72 inheritance is autosomal dominant or recessive.
See also OMIM:615625
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07099636V → E in SPG72; abolishes REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs483352923EnsemblClinVar.1
Natural variantiVAR_07099772F → Y in SPG72; reduces REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs483352925EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi51308
MalaCardsiREEP2
MIMi615625 phenotype
OpenTargetsiENSG00000132563
Orphaneti401849 Autosomal spastic paraplegia type 72
PharmGKBiPA134920985

Polymorphism and mutation databases

DMDMi74732895

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001018231 – 252Receptor expression-enhancing protein 2Add BLAST252

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei150PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BRK0
MaxQBiQ9BRK0
PaxDbiQ9BRK0
PeptideAtlasiQ9BRK0
PRIDEiQ9BRK0
ProteomicsDBi78774
78775 [Q9BRK0-2]

PTM databases

iPTMnetiQ9BRK0
PhosphoSitePlusiQ9BRK0

Expressioni

Tissue specificityi

Detected in brain, heart and skeletal muscle, and at low levels in placenta, kidney and pancreas (PubMed:11161817). Expressed in circumvallate papillae (PubMed:16720576).2 Publications

Gene expression databases

BgeeiENSG00000132563 Expressed in 183 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_REEP2
ExpressionAtlasiQ9BRK0 baseline and differential
GenevisibleiQ9BRK0 HS

Organism-specific databases

HPAiHPA031813

Interactioni

Subunit structurei

Interacts with odorant receptor proteins.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi119459, 7 interactors
IntActiQ9BRK0, 13 interactors
STRINGi9606.ENSP00000254901

Family & Domainsi

Sequence similaritiesi

Belongs to the DP1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1726 Eukaryota
COG5052 LUCA
GeneTreeiENSGT00550000074535
HOGENOMiHOG000007472
HOVERGENiHBG056861
InParanoidiQ9BRK0
KOiK17338
OMAiRTEHSDD
PhylomeDBiQ9BRK0
TreeFamiTF314177

Family and domain databases

InterProiView protein in InterPro
IPR004345 TB2_DP1_HVA22
PANTHERiPTHR12300 PTHR12300, 1 hit
PfamiView protein in Pfam
PF03134 TB2_DP1_HVA22, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BRK0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVSWIISRLV VLIFGTLYPA YSSYKAVKTK NVKEYVKWMM YWIVFAFFTT
60 70 80 90 100
AETLTDIVLS WFPFYFELKI AFVIWLLSPY TKGSSVLYRK FVHPTLSNKE
110 120 130 140 150
KEIDEYITQA RDKSYETMMR VGKRGLNLAA NAAVTAAAKG VLSEKLRSFS
160 170 180 190 200
MQDLTLIRDE DALPLQRPDG RLRPSPGSLL DTIEDLGDDP ALSLRSSTNP
210 220 230 240 250
ADSRTEASED DMGDKAPKRA KPIKKAPKAE PLASKTLKTR PKKKTSGGGD

SA
Length:252
Mass (Da):28,261
Last modified:March 1, 2004 - v2
Checksum:iC2A4DD7F35E7F9C5
GO
Isoform 2 (identifier: Q9BRK0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     139-139: K → KGQ

Show »
Length:254
Mass (Da):28,446
Checksum:iD19FC26DC93101F7
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAC5H0YAC5_HUMAN
Receptor expression-enhancing prote...
REEP2
191Annotation score:
A0A087WV88A0A087WV88_HUMAN
Receptor expression-enhancing prote...
REEP2
151Annotation score:
B4DE60B4DE60_HUMAN
Receptor expression-enhancing prote...
REEP2
214Annotation score:
D6RB42D6RB42_HUMAN
Receptor expression-enhancing prote...
REEP2
40Annotation score:

Sequence cautioni

The sequence AAF63767 differs from that shown. Reason: Frameshift at position 171.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07099636V → E in SPG72; abolishes REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs483352923EnsemblClinVar.1
Natural variantiVAR_07099772F → Y in SPG72; reduces REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs483352925EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_016633139K → KGQ in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY562240 mRNA Translation: AAT70685.1
AK223611 mRNA Translation: BAD97331.1
BC006218 mRNA Translation: AAH06218.2
AF251041 mRNA Translation: AAF63767.1 Frameshift.
CCDSiCCDS4205.1 [Q9BRK0-1]
CCDS64259.1 [Q9BRK0-2]
RefSeqiNP_001258732.1, NM_001271803.1 [Q9BRK0-2]
NP_057690.2, NM_016606.3 [Q9BRK0-1]
UniGeneiHs.416090

Genome annotation databases

EnsembliENST00000254901; ENSP00000254901; ENSG00000132563 [Q9BRK0-1]
ENST00000378339; ENSP00000367590; ENSG00000132563 [Q9BRK0-2]
GeneIDi51308
KEGGihsa:51308
UCSCiuc003lcz.5 human [Q9BRK0-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY562240 mRNA Translation: AAT70685.1
AK223611 mRNA Translation: BAD97331.1
BC006218 mRNA Translation: AAH06218.2
AF251041 mRNA Translation: AAF63767.1 Frameshift.
CCDSiCCDS4205.1 [Q9BRK0-1]
CCDS64259.1 [Q9BRK0-2]
RefSeqiNP_001258732.1, NM_001271803.1 [Q9BRK0-2]
NP_057690.2, NM_016606.3 [Q9BRK0-1]
UniGeneiHs.416090

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119459, 7 interactors
IntActiQ9BRK0, 13 interactors
STRINGi9606.ENSP00000254901

PTM databases

iPTMnetiQ9BRK0
PhosphoSitePlusiQ9BRK0

Polymorphism and mutation databases

DMDMi74732895

Proteomic databases

EPDiQ9BRK0
MaxQBiQ9BRK0
PaxDbiQ9BRK0
PeptideAtlasiQ9BRK0
PRIDEiQ9BRK0
ProteomicsDBi78774
78775 [Q9BRK0-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254901; ENSP00000254901; ENSG00000132563 [Q9BRK0-1]
ENST00000378339; ENSP00000367590; ENSG00000132563 [Q9BRK0-2]
GeneIDi51308
KEGGihsa:51308
UCSCiuc003lcz.5 human [Q9BRK0-1]

Organism-specific databases

CTDi51308
DisGeNETi51308
EuPathDBiHostDB:ENSG00000132563.15
GeneCardsiREEP2
H-InvDBiHIX0121063
HGNCiHGNC:17975 REEP2
HPAiHPA031813
MalaCardsiREEP2
MIMi609347 gene
615625 phenotype
neXtProtiNX_Q9BRK0
OpenTargetsiENSG00000132563
Orphaneti401849 Autosomal spastic paraplegia type 72
PharmGKBiPA134920985
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1726 Eukaryota
COG5052 LUCA
GeneTreeiENSGT00550000074535
HOGENOMiHOG000007472
HOVERGENiHBG056861
InParanoidiQ9BRK0
KOiK17338
OMAiRTEHSDD
PhylomeDBiQ9BRK0
TreeFamiTF314177

Enzyme and pathway databases

ReactomeiR-HSA-381753 Olfactory Signaling Pathway

Miscellaneous databases

GeneWikiiREEP2
GenomeRNAii51308
PROiPR:Q9BRK0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132563 Expressed in 183 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_REEP2
ExpressionAtlasiQ9BRK0 baseline and differential
GenevisibleiQ9BRK0 HS

Family and domain databases

InterProiView protein in InterPro
IPR004345 TB2_DP1_HVA22
PANTHERiPTHR12300 PTHR12300, 1 hit
PfamiView protein in Pfam
PF03134 TB2_DP1_HVA22, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiREEP2_HUMAN
AccessioniPrimary (citable) accession number: Q9BRK0
Secondary accession number(s): Q53EM8, Q9NYF2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: March 1, 2004
Last modified: November 7, 2018
This is version 125 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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