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UniProtKB - Q9BRK0 (REEP2_HUMAN)

Entry version 140 (07 Oct 2020)
Sequence version 2 (01 Mar 2004)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BRK0

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-381753, Olfactory Signaling Pathway

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Receptor expression-enhancing protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:REEP2
Synonyms:C5orf19, SGC32445
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000132563.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:17975, REEP2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609347, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BRK0

<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

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1 – 21HelicalSequence analysisAdd BLAST21
Transmembranei35 – 55HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Membrane

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		51308

MalaCards human disease database

More...MalaCardsi		REEP2
MIMi615625, phenotype

Open Targets

More...OpenTargetsi		ENSG00000132563

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		401849, Autosomal spastic paraplegia type 72

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134920985

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BRK0, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		REEP2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74732895

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001018231 – 252Receptor expression-enhancing protein 2Add BLAST252

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei150PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BRK0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BRK0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BRK0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9BRK0

PeptideAtlas

More...PeptideAtlasi		Q9BRK0

PRoteomics IDEntifications database

More...PRIDEi		Q9BRK0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78774 [Q9BRK0-1]
78775 [Q9BRK0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BRK0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9BRK0

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000132563, Expressed in right hemisphere of cerebellum and 200 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BRK0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BRK0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000132563, Tissue enhanced (brain)

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with odorant receptor proteins.

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119459, 32 interactors

Protein interaction database and analysis system

More...IntActi		Q9BRK0, 31 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000367590

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BRK0, protein

<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

Belongs to the DP1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1726, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160001

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_028431_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BRK0

KEGG Orthology (KO)

More...KOi		K17338

Identification of Orthologs from Complete Genome Data

More...OMAi		RTEHSDD

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BRK0

TreeFam database of animal gene trees

More...TreeFami		TF314177

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004345, TB2_DP1_HVA22

The PANTHER Classification System

More...PANTHERi		PTHR12300, PTHR12300, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03134, TB2_DP1_HVA22, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

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

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YAC5H0YAC5_HUMAN
Receptor expression-enhancing prote...
REEP2
191Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B4DE60B4DE60_HUMAN
Receptor expression-enhancing prote...
REEP2
214Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RB42D6RB42_HUMAN
Receptor expression-enhancing prote...
REEP2
40Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<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

The sequence AAF63767 differs from that shown. Reason: Frameshift.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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_016633139K → KGQ in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000254901; ENSP00000254901; ENSG00000132563 [Q9BRK0-1]
ENST00000378339; ENSP00000367590; ENSG00000132563 [Q9BRK0-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51308

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51308

UCSC genome browser

More...UCSCi		uc003lcz.5, human [Q9BRK0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<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

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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi119459, 32 interactors
IntActiQ9BRK0, 31 interactors
STRINGi9606.ENSP00000367590

PTM databases

iPTMnetiQ9BRK0
PhosphoSitePlusiQ9BRK0

Polymorphism and mutation databases

BioMutaiREEP2
DMDMi74732895

Proteomic databases

jPOSTiQ9BRK0
MassIVEiQ9BRK0
MaxQBiQ9BRK0
PaxDbiQ9BRK0
PeptideAtlasiQ9BRK0
PRIDEiQ9BRK0
ProteomicsDBi78774 [Q9BRK0-1]
78775 [Q9BRK0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26670, 388 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51308
DisGeNETi51308
EuPathDBiHostDB:ENSG00000132563.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		REEP2
HGNCiHGNC:17975, REEP2
HPAiENSG00000132563, Tissue enhanced (brain)
MalaCardsiREEP2
MIMi609347, gene
615625, phenotype
neXtProtiNX_Q9BRK0
OpenTargetsiENSG00000132563
Orphaneti401849, Autosomal spastic paraplegia type 72
PharmGKBiPA134920985

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1726, Eukaryota
GeneTreeiENSGT00940000160001
HOGENOMiCLU_028431_0_1_1
InParanoidiQ9BRK0
KOiK17338
OMAiRTEHSDD
PhylomeDBiQ9BRK0
TreeFamiTF314177

Enzyme and pathway databases

PathwayCommonsiQ9BRK0
ReactomeiR-HSA-381753, Olfactory Signaling Pathway

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51308, 8 hits in 866 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		REEP2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		REEP2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		51308
PharosiQ9BRK0, Tdark

Protein Ontology

More...PROi		PR:Q9BRK0
RNActiQ9BRK0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000132563, Expressed in right hemisphere of cerebellum and 200 other tissues
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiREEP2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9BRK0
Secondary accession number(s): Q53EM8, Q9NYF2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: March 1, 2004
Last modified: October 7, 2020
This is version 140 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<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

Reference proteome

Documents

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