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Protein

Receptor expression-enhancing protein 2

Gene

REEP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 - Biological processi

Complete GO annotation...

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

HGNCiHGNC:17975. REEP2.

Subcellular locationi

Topology

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

GO - Cellular componenti

  • cytoplasmic microtubule Source: UniProtKB
  • endoplasmic reticulum Source: UniProtKB
  • endoplasmic reticulum membrane Source: Ensembl
  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: Ensembl
Complete GO annotation...

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 rs483352923dbSNPEnsembl.1
Natural variantiVAR_07099772F → Y in SPG72; reduces REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum. 1 PublicationCorresponds to variant rs483352925dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi51308.
MalaCardsiREEP2.
MIMi615625. phenotype.
OpenTargetsiENSG00000132563.
Orphaneti401849. Autosomal recessive 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.

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.
CleanExiHS_REEP2.
ExpressionAtlasiQ9BRK0. baseline and differential.
GenevisibleiQ9BRK0. HS.

Organism-specific databases

HPAiHPA031813.

Interactioni

Subunit structurei

Interacts with odorant receptor proteins.By similarity

Protein-protein interaction databases

BioGridi119459. 7 interactors.
IntActiQ9BRK0. 2 interactors.
STRINGi9606.ENSP00000254901.

Structurei

3D structure databases

ProteinModelPortaliQ9BRK0.
ModBaseiSearch...
MobiDBiSearch...

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.
OMAiKRVKPIK.
PhylomeDBiQ9BRK0.
TreeFamiTF314177.

Family and domain databases

InterProiIPR004345. TB2_DP1_HVA22.
[Graphical view]
PANTHERiPTHR12300. PTHR12300. 1 hit.
PfamiPF03134. TB2_DP1_HVA22. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 rs483352923dbSNPEnsembl.1
Natural variantiVAR_07099772F → Y in SPG72; reduces REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum. 1 PublicationCorresponds to variant rs483352925dbSNPEnsembl.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

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

ProteinModelPortaliQ9BRK0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119459. 7 interactors.
IntActiQ9BRK0. 2 interactors.
STRINGi9606.ENSP00000254901.

PTM databases

iPTMnetiQ9BRK0.
PhosphoSitePlusiQ9BRK0.

Polymorphism and mutation databases

DMDMi74732895.

Proteomic databases

EPDiQ9BRK0.
MaxQBiQ9BRK0.
PaxDbiQ9BRK0.
PeptideAtlasiQ9BRK0.
PRIDEiQ9BRK0.

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.
GeneCardsiREEP2.
H-InvDBHIX0121063.
HGNCiHGNC:17975. REEP2.
HPAiHPA031813.
MalaCardsiREEP2.
MIMi609347. gene.
615625. phenotype.
neXtProtiNX_Q9BRK0.
OpenTargetsiENSG00000132563.
Orphaneti401849. Autosomal recessive spastic paraplegia type 72.
PharmGKBiPA134920985.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1726. Eukaryota.
COG5052. LUCA.
GeneTreeiENSGT00550000074535.
HOGENOMiHOG000007472.
HOVERGENiHBG056861.
InParanoidiQ9BRK0.
KOiK17338.
OMAiKRVKPIK.
PhylomeDBiQ9BRK0.
TreeFamiTF314177.

Miscellaneous databases

GeneWikiiREEP2.
GenomeRNAii51308.
PROiQ9BRK0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000132563.
CleanExiHS_REEP2.
ExpressionAtlasiQ9BRK0. baseline and differential.
GenevisibleiQ9BRK0. HS.

Family and domain databases

InterProiIPR004345. TB2_DP1_HVA22.
[Graphical view]
PANTHERiPTHR12300. PTHR12300. 1 hit.
PfamiPF03134. TB2_DP1_HVA22. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiREEP2_HUMAN
AccessioniPrimary (citable) accession number: Q9BRK0
Secondary accession number(s): Q53EM8, Q9NYF2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: March 1, 2004
Last modified: November 2, 2016
This is version 114 of the entry and version 2 of the sequence. [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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.