UniProtKB - Q9BRK0 (REEP2_HUMAN)
Protein
Receptor expression-enhancing protein 2
Gene
REEP2
Organism
Homo sapiens (Human)
Status
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
- microtubule binding Source: GO_Central
- taste receptor binding Source: GO_Central
GO - Biological processi
- endoplasmic reticulum tubular network organization Source: UniProtKB
- protein transport into membrane raft Source: Ensembl
- regulation of intracellular transport Source: Ensembl
- sensory perception of bitter taste Source: Ensembl
- sensory perception of sweet taste Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q9BRK0 |
Reactomei | R-HSA-381753, Olfactory Signaling Pathway |
Names & Taxonomyi
Protein namesi | Recommended name: Receptor expression-enhancing protein 2 |
Gene namesi | Name:REEP2 Synonyms:C5orf19, SGC32445 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000132563.15 |
HGNCi | HGNC:17975, REEP2 |
MIMi | 609347, gene |
neXtProti | NX_Q9BRK0 |
Subcellular locationi
Other locations
- Membrane By similarity; Multi-pass membrane protein By similarity
Cytoskeleton
- cytoplasmic microtubule Source: UniProtKB
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
- endoplasmic reticulum membrane Source: GO_Central
- endoplasmic reticulum tubular network Source: GO_Central
Plasma Membrane
- integral component of plasma membrane Source: Ensembl
Other locations
- membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 1 – 21 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 35 – 55 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070996 | 36 | V → E in SPG72; abolishes REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs483352923EnsemblClinVar. | 1 | |
Natural variantiVAR_070997 | 72 | F → 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, NeurodegenerationOrganism-specific databases
DisGeNETi | 51308 |
MalaCardsi | REEP2 |
MIMi | 615625, phenotype |
OpenTargetsi | ENSG00000132563 |
Orphaneti | 401849, Autosomal spastic paraplegia type 72 |
PharmGKBi | PA134920985 |
Miscellaneous databases
Pharosi | Q9BRK0, Tdark |
Polymorphism and mutation databases
BioMutai | REEP2 |
DMDMi | 74732895 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000101823 | 1 – 252 | Receptor expression-enhancing protein 2Add BLAST | 252 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 150 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q9BRK0 |
MassIVEi | Q9BRK0 |
MaxQBi | Q9BRK0 |
PaxDbi | Q9BRK0 |
PeptideAtlasi | Q9BRK0 |
PRIDEi | Q9BRK0 |
ProteomicsDBi | 78774 [Q9BRK0-1] 78775 [Q9BRK0-2] |
PTM databases
iPTMneti | Q9BRK0 |
PhosphoSitePlusi | Q9BRK0 |
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
Bgeei | ENSG00000132563, Expressed in right hemisphere of cerebellum and 200 other tissues |
ExpressionAtlasi | Q9BRK0, baseline and differential |
Genevisiblei | Q9BRK0, HS |
Organism-specific databases
HPAi | ENSG00000132563, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Interacts with odorant receptor proteins.
By similarityBinary interactionsi
Hide detailsQ9BRK0
GO - Molecular functioni
- microtubule binding Source: GO_Central
- taste receptor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 119459, 32 interactors |
IntActi | Q9BRK0, 31 interactors |
STRINGi | 9606.ENSP00000367590 |
Miscellaneous databases
RNActi | Q9BRK0, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the DP1 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1726, Eukaryota |
GeneTreei | ENSGT00940000160001 |
HOGENOMi | CLU_028431_0_1_1 |
InParanoidi | Q9BRK0 |
OMAi | RTEHSDD |
PhylomeDBi | Q9BRK0 |
TreeFami | TF314177 |
Family and domain databases
InterProi | View protein in InterPro IPR004345, TB2_DP1_HVA22 |
PANTHERi | PTHR12300, PTHR12300, 1 hit |
Pfami | View protein in Pfam PF03134, TB2_DP1_HVA22, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WV88 | A0A087WV88_HUMAN | Receptor expression-enhancing prote... | REEP2 | 151 | Annotation score: | ||
H0YAC5 | H0YAC5_HUMAN | Receptor expression-enhancing prote... | REEP2 | 191 | Annotation score: | ||
B4DE60 | B4DE60_HUMAN | Receptor expression-enhancing prote... | REEP2 | 214 | Annotation score: | ||
D6RB42 | D6RB42_HUMAN | Receptor expression-enhancing prote... | REEP2 | 40 | Annotation score: |
Sequence cautioni
The sequence AAF63767 differs from that shown. Reason: Frameshift.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_070996 | 36 | V → E in SPG72; abolishes REEP2 interaction with membranes; affects correct shaping of the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs483352923EnsemblClinVar. | 1 | |
Natural variantiVAR_070997 | 72 | F → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_016633 | 139 | K → KGQ in isoform 2. 2 Publications | 1 |
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. |
CCDSi | CCDS4205.1 [Q9BRK0-1] CCDS64259.1 [Q9BRK0-2] |
RefSeqi | NP_001258732.1, NM_001271803.1 [Q9BRK0-2] NP_057690.2, NM_016606.3 [Q9BRK0-1] |
Genome annotation databases
Ensembli | ENST00000254901; ENSP00000254901; ENSG00000132563 [Q9BRK0-1] ENST00000378339; ENSP00000367590; ENSG00000132563 [Q9BRK0-2] |
GeneIDi | 51308 |
KEGGi | hsa:51308 |
UCSCi | uc003lcz.5, human [Q9BRK0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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. |
CCDSi | CCDS4205.1 [Q9BRK0-1] CCDS64259.1 [Q9BRK0-2] |
RefSeqi | NP_001258732.1, NM_001271803.1 [Q9BRK0-2] NP_057690.2, NM_016606.3 [Q9BRK0-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 119459, 32 interactors |
IntActi | Q9BRK0, 31 interactors |
STRINGi | 9606.ENSP00000367590 |
PTM databases
iPTMneti | Q9BRK0 |
PhosphoSitePlusi | Q9BRK0 |
Polymorphism and mutation databases
BioMutai | REEP2 |
DMDMi | 74732895 |
Proteomic databases
jPOSTi | Q9BRK0 |
MassIVEi | Q9BRK0 |
MaxQBi | Q9BRK0 |
PaxDbi | Q9BRK0 |
PeptideAtlasi | Q9BRK0 |
PRIDEi | Q9BRK0 |
ProteomicsDBi | 78774 [Q9BRK0-1] 78775 [Q9BRK0-2] |
Protocols and materials databases
Antibodypediai | 26670, 389 antibodies |
Genome annotation databases
Ensembli | ENST00000254901; ENSP00000254901; ENSG00000132563 [Q9BRK0-1] ENST00000378339; ENSP00000367590; ENSG00000132563 [Q9BRK0-2] |
GeneIDi | 51308 |
KEGGi | hsa:51308 |
UCSCi | uc003lcz.5, human [Q9BRK0-1] |
Organism-specific databases
CTDi | 51308 |
DisGeNETi | 51308 |
EuPathDBi | HostDB:ENSG00000132563.15 |
GeneCardsi | REEP2 |
HGNCi | HGNC:17975, REEP2 |
HPAi | ENSG00000132563, Tissue enhanced (brain) |
MalaCardsi | REEP2 |
MIMi | 609347, gene 615625, phenotype |
neXtProti | NX_Q9BRK0 |
OpenTargetsi | ENSG00000132563 |
Orphaneti | 401849, Autosomal spastic paraplegia type 72 |
PharmGKBi | PA134920985 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1726, Eukaryota |
GeneTreei | ENSGT00940000160001 |
HOGENOMi | CLU_028431_0_1_1 |
InParanoidi | Q9BRK0 |
OMAi | RTEHSDD |
PhylomeDBi | Q9BRK0 |
TreeFami | TF314177 |
Enzyme and pathway databases
PathwayCommonsi | Q9BRK0 |
Reactomei | R-HSA-381753, Olfactory Signaling Pathway |
Miscellaneous databases
BioGRID-ORCSi | 51308, 8 hits in 838 CRISPR screens |
ChiTaRSi | REEP2, human |
GeneWikii | REEP2 |
GenomeRNAii | 51308 |
Pharosi | Q9BRK0, Tdark |
PROi | PR:Q9BRK0 |
RNActi | Q9BRK0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000132563, Expressed in right hemisphere of cerebellum and 200 other tissues |
ExpressionAtlasi | Q9BRK0, baseline and differential |
Genevisiblei | Q9BRK0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR004345, TB2_DP1_HVA22 |
PANTHERi | PTHR12300, PTHR12300, 1 hit |
Pfami | View protein in Pfam PF03134, TB2_DP1_HVA22, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | REEP2_HUMAN | |
Accessioni | Q9BRK0Primary (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: | December 2, 2020 | |
This is version 141 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations