REEP2

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

taste receptor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

endoplasmic reticulum tubular network organization
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 24388663
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

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactomeⁱ	R-HSA-381753 Olfactory Signaling Pathway

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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000132563.15
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:17975 REEP2
MIMⁱ	609347 gene
neXtProtⁱ	NX_Q9BRK0

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

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.

Keywords - Diseaseⁱ

Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	51308
MalaCards human disease database More...MalaCardsⁱ	REEP2
MIMⁱ	615625 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000132563
Orphanetⁱ	401849 Autosomal spastic paraplegia type 72
PharmGKBⁱ	PA134920985

Polymorphism and mutation databases

DMDMⁱ	74732895

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

Phosphoprotein

Proteomic databases

EPDⁱ	Q9BRK0
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9BRK0
PaxDbⁱ	Q9BRK0
PeptideAtlas More...PeptideAtlasⁱ	Q9BRK0
PRIDEⁱ	Q9BRK0
ProteomicsDBⁱ	78774 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 183 organ(s), highest expression level in right hemisphere of cerebellum
CleanExⁱ	HS_REEP2
ExpressionAtlasⁱ	Q9BRK0 baseline and differential
Genevisibleⁱ	Q9BRK0 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA031813

HPAⁱ

HPA031813

Interactionⁱ

Subunit structureⁱ

Interacts with odorant receptor proteins.By similarity

GO - Molecular functionⁱ

taste receptor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	119459, 7 interactors
IntActⁱ	Q9BRK0, 13 interactors
STRINGⁱ	9606.ENSP00000254901

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the DP1 family.Curated

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG1726 Eukaryota COG5052 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074535
HOGENOMⁱ	HOG000007472
HOVERGENⁱ	HBG056861
InParanoidⁱ	Q9BRK0
KEGG Orthology (KO) More...KOⁱ	K17338
OMAⁱ	RTEHSDD
PhylomeDBⁱ	Q9BRK0
TreeFamⁱ	TF314177

Family and domain databases

InterProⁱ	View protein in InterPro IPR004345 TB2_DP1_HVA22
PANTHERⁱ	PTHR12300 PTHR12300, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF03134 TB2_DP1_HVA22, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

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

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

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

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

« 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 QGVLSEKLRS 
       160        170        180        190        200
FSMQDLTLIR DEDALPLQRP DGRLRPSPGS LLDTIEDLGD DPALSLRSST 
       210        220        230        240        250
NPADSRTEAS EDDMGDKAPK RAKPIKKAPK AEPLASKTLK TRPKKKTSGG 

GDSA

Show »

Length:254

Mass (Da):28,446

Checksum:ⁱD19FC26DC93101F7

GO

Computationally mapped potential isoform sequencesⁱ

There are 4 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0YAC5	H0YAC5_HUMAN	Receptor expression-enhancing prote... Receptor expression-enhancing protein	REEP2	191	Annotation score:
A0A087WV88	A0A087WV88_HUMAN	Receptor expression-enhancing prote... Receptor expression-enhancing protein	REEP2	151	Annotation score:
B4DE60	B4DE60_HUMAN	Receptor expression-enhancing prote... Receptor expression-enhancing protein	REEP2	214	Annotation score:
D6RB42	D6RB42_HUMAN	Receptor expression-enhancing prote... Receptor expression-enhancing protein 2	REEP2	40	Annotation score:

Sequence cautionⁱ

The sequence AAF63767 differs from that shown. Reason: Frameshift at position 171.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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS4205.1 [Q9BRK0-1] CCDS64259.1 [Q9BRK0-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_001258732.1, NM_001271803.1 [Q9BRK0-2] NP_057690.2, NM_016606.3 [Q9BRK0-1]
UniGeneⁱ	Hs.416090

Genome annotation databases

Ensemblⁱ	ENST00000254901; ENSP00000254901; ENSG00000132563 [Q9BRK0-1] ENST00000378339; ENSP00000367590; ENSG00000132563 [Q9BRK0-2]
GeneIDⁱ	51308
KEGGⁱ	hsa:51308
UCSC genome browser More...UCSCⁱ	uc003lcz.5 human [Q9BRK0-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9BRK0	Receptor expression-enhancing protein		PANTR		252	UniRef100_Q9BRK0
Receptor expression-enhancing protein		HUMAN		214
Receptor expression-enhancing protein		PANPA		214
Receptor expression-enhancing protein		PANTR		214
Q9BRK0-2	Receptor expression-enhancing protein		HUMAN		254	UniRef100_A8K3D2
Receptor expression-enhancing protein		PANTR		254
Receptor expression-enhancing protein		HUMAN		216

Protein	Similar proteins		Species	Score	Length	Source
Q9BRK0	Receptor expression-enhancing protein		PANTR		252	UniRef90_Q9BRK0
Receptor expression-enhancing protein		HUMAN		214
Receptor expression-enhancing protein		PANPA		214
Receptor expression-enhancing protein		RHIRO		254
Receptor expression-enhancing protein		RHIBE		254
+109

Protein	Similar proteins		Species	Score	Length	Source
Q9BRK0	Receptor expression-enhancing protein 2		MOUSE		254	UniRef50_Q9BRK0
Receptor expression-enhancing protein 2		BOVIN		254
Receptor expression-enhancing protein		PANTR		252
Receptor expression-enhancing protein		HUMAN		214
Receptor expression-enhancing protein		PANPA		214
+379

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]
UniGeneⁱ	Hs.416090

3D structure databases

ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	119459, 7 interactors
IntActⁱ	Q9BRK0, 13 interactors
STRINGⁱ	9606.ENSP00000254901

PTM databases

iPTMnetⁱ	Q9BRK0
PhosphoSitePlusⁱ	Q9BRK0

Polymorphism and mutation databases

DMDMⁱ	74732895

DMDMⁱ

74732895

Proteomic databases

EPDⁱ	Q9BRK0
MaxQBⁱ	Q9BRK0
PaxDbⁱ	Q9BRK0
PeptideAtlasⁱ	Q9BRK0
PRIDEⁱ	Q9BRK0
ProteomicsDBⁱ	78774 78775 [Q9BRK0-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

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
H-InvDBⁱ	HIX0121063
HGNCⁱ	HGNC:17975 REEP2
HPAⁱ	HPA031813
MalaCardsⁱ	REEP2
MIMⁱ	609347 gene 615625 phenotype
neXtProtⁱ	NX_Q9BRK0
OpenTargetsⁱ	ENSG00000132563
Orphanetⁱ	401849 Autosomal spastic paraplegia type 72
PharmGKBⁱ	PA134920985
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG1726 Eukaryota COG5052 LUCA
GeneTreeⁱ	ENSGT00550000074535
HOGENOMⁱ	HOG000007472
HOVERGENⁱ	HBG056861
InParanoidⁱ	Q9BRK0
KOⁱ	K17338
OMAⁱ	RTEHSDD
PhylomeDBⁱ	Q9BRK0
TreeFamⁱ	TF314177

Enzyme and pathway databases

Reactomeⁱ	R-HSA-381753 Olfactory Signaling Pathway

Reactomeⁱ

R-HSA-381753 Olfactory Signaling Pathway

Miscellaneous databases

GeneWikiⁱ	REEP2
GenomeRNAiⁱ	51308
Protein Ontology More...PROⁱ	PR:Q9BRK0
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000132563 Expressed in 183 organ(s), highest expression level in right hemisphere of cerebellum
CleanExⁱ	HS_REEP2
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...

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:	November 7, 2018
	This is version 125 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

Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
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
Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM

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UniProtKB - Q9BRK0 (REEP2_HUMAN)

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Receptor expression-enhancing protein 2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Other locations

Cytoskeleton

Endoplasmic reticulum

Plasma Membrane

Topology

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ