Aliases for REEP5 Gene

Aliases for REEP5 Gene

  • Receptor Accessory Protein 5 2 3 5
  • Polyposis Locus Protein 1 2 3 4
  • DP1 2 3 4
  • TB2 2 3 4
  • Polyposis Coli Region Hypothetical Protein DP1 2 3
  • Receptor Expression-Enhancing Protein 5 3 4
  • Deleted In Polyposis 1 2 3
  • C5orf18 3 4
  • D5S346 2 3
  • POB16 2 3
  • Yip2e 2 3
  • Chromosome 5 Open Reading Frame 18 2
  • Protein TB2 4
  • REEP5 5
  • YOP1 3

External Ids for REEP5 Gene

Previous HGNC Symbols for REEP5 Gene

  • C5orf18

Previous GeneCards Identifiers for REEP5 Gene

  • GC05M112240
  • GC05M112212
  • GC05M107391

Summaries for REEP5 Gene

GeneCards Summary for REEP5 Gene

REEP5 (Receptor Accessory Protein 5) is a Protein Coding gene. Diseases associated with REEP5 include Transitional Papilloma and Cecum Carcinoma. Among its related pathways are Signaling by GPCR and Olfactory transduction. An important paralog of this gene is REEP6.

UniProtKB/Swiss-Prot Summary for REEP5 Gene

  • May promote functional cell surface expression of olfactory receptors.

Gene Wiki entry for REEP5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for REEP5 Gene

Genomics for REEP5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for REEP5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around REEP5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REEP5

Top Transcription factor binding sites by QIAGEN in the REEP5 gene promoter:
  • AhR
  • AP-1
  • Arnt
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • GR
  • GR-alpha
  • LCR-F1

Genomic Locations for REEP5 Gene

Latest Assembly
chr5:112,876,385-112,922,289
(GRCh38/hg38)
Size:
45,905 bases
Orientation:
Minus strand

Previous Assembly
chr5:112,212,082-112,257,924
(GRCh37/hg19 by Entrez Gene)
Size:
45,843 bases
Orientation:
Minus strand

chr5:112,212,084-112,258,236
(GRCh37/hg19 by Ensembl)
Size:
46,153 bases
Orientation:
Minus strand

Genomic View for REEP5 Gene

Genes around REEP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REEP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REEP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REEP5 Gene

Proteins for REEP5 Gene

  • Protein details for REEP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00765-REEP5_HUMAN
    Recommended name:
    Receptor expression-enhancing protein 5
    Protein Accession:
    Q00765
    Secondary Accessions:
    • B7Z681
    • D3DT04
    • Q04198
    • Q5QGT0
    • Q9BWH9

    Protein attributes for REEP5 Gene

    Size:
    189 amino acids
    Molecular mass:
    21493 Da
    Quaternary structure:
    • Interacts with ATL1 (By similarity). Interacts with ATL2 (PubMed:19665976). Interacts with ZFYVE27 (PubMed:23969831).
    SequenceCaution:
    • Sequence=AAA60136.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAA66351.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH65926.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for REEP5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REEP5 Gene

Post-translational modifications for REEP5 Gene

  • Ubiquitination at Lys16, Lys147, and Lys157
  • Modification sites at PhosphoSitePlus

Other Protein References for REEP5 Gene

Antibodies for research

  • Abcam antibodies for REEP5

No data available for DME Specific Peptides for REEP5 Gene

Domains & Families for REEP5 Gene

Gene Families for REEP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for REEP5 Gene

InterPro:
Blocks:
  • TB2/DP1 and HVA22 related proteins

Suggested Antigen Peptide Sequences for REEP5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50528, moderately similar to Receptor expression-enhancing protein 5 (B7Z332_HUMAN)
  • cDNA FLJ50599, highly similar to Receptor expression-enhancing protein 5 (B7Z510_HUMAN)
  • cDNA FLJ50649, highly similar to Receptor expression-enhancing protein 5 (B7Z681_HUMAN)
  • Protein TB2 (REEP5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00765

UniProtKB/Swiss-Prot:

REEP5_HUMAN :
  • Belongs to the DP1 family.
Family:
  • Belongs to the DP1 family.
genes like me logo Genes that share domains with REEP5: view

Function for REEP5 Gene

Molecular function for REEP5 Gene

UniProtKB/Swiss-Prot Function:
May promote functional cell surface expression of olfactory receptors.

Phenotypes From GWAS Catalog for REEP5 Gene

Gene Ontology (GO) - Molecular Function for REEP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16762630
genes like me logo Genes that share ontologies with REEP5: view
genes like me logo Genes that share phenotypes with REEP5: view

Animal Models for research

  • Taconic Biosciences Mouse Models for REEP5

miRNA for REEP5 Gene

miRTarBase miRNAs that target REEP5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REEP5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for REEP5 Gene

Localization for REEP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REEP5 Gene

Membrane. Multi-pass membrane protein. Endoplasmic reticulum. Note=Localizes to endoplasmic reticulum tubular network. {ECO:0000269 PubMed:23969831}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REEP5 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
golgi apparatus 2
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for REEP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0071782 endoplasmic reticulum tubular network IDA 23969831
genes like me logo Genes that share ontologies with REEP5: view

Pathways & Interactions for REEP5 Gene

PathCards logo

SuperPathways for REEP5 Gene

genes like me logo Genes that share pathways with REEP5: view

Pathways by source for REEP5 Gene

SIGNOR curated interactions for REEP5 Gene

Activates:

Gene Ontology (GO) - Biological Process for REEP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007029 endoplasmic reticulum organization ISS --
GO:0008150 biological_process ND --
GO:0032386 regulation of intracellular transport ISS --
genes like me logo Genes that share ontologies with REEP5: view

Drugs & Compounds for REEP5 Gene

(4) Drugs for REEP5 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 613
Fluoxetine Approved, Vet_approved Pharma 290
Paroxetine Approved, Investigational Pharma 265
Sertraline Approved Pharma 352
genes like me logo Genes that share compounds with REEP5: view

Transcripts for REEP5 Gene

mRNA/cDNA for REEP5 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REEP5

Alternative Splicing Database (ASD) splice patterns (SP) for REEP5 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4:
SP5: -

Relevant External Links for REEP5 Gene

GeneLoc Exon Structure for
REEP5

Expression for REEP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for REEP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for REEP5 Gene

This gene is overexpressed in Nasal epithelium (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for REEP5 Gene



Protein tissue co-expression partners for REEP5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for REEP5

SOURCE GeneReport for Unigene cluster for REEP5 Gene:

Hs.429608

mRNA Expression by UniProt/SwissProt for REEP5 Gene:

Q00765-REEP5_HUMAN
Tissue specificity: Expressed in circumvallate papillae and testis.

Evidence on tissue expression from TISSUES for REEP5 Gene

  • Nervous system(5)
  • Skin(4.7)
  • Liver(4.5)
  • Eye(4.3)
  • Kidney(3.9)
  • Intestine(3)
  • Lung(2.9)
  • Muscle(2.8)
  • Pancreas(2.6)
  • Stomach(2.6)
  • Blood(2.6)
  • Thyroid gland(2.5)
  • Lymph node(2.5)
  • Heart(2.4)
  • Adrenal gland(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with REEP5: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for REEP5 Gene

Orthologs for REEP5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for REEP5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia REEP5 29 30
  • 99.82 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Reep5 29 16 30
  • 90.48 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia REEP5 29 30
  • 89.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC479137 29
  • 89.25 (n)
REEP5 30
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia REEP5 30
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Reep5 29
  • 88.89 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia REEP5 30
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves REEP5 29 30
  • 80.78 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia REEP5 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia reep5 29
  • 74.96 (n)
Str.6213 29
Zebrafish
(Danio rerio)
Actinopterygii reep5 29 30 30
  • 71.12 (n)
OneToMany
-- 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8928 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG8331 29 30
  • 58.8 (n)
ManyToMany
CG4960 30
  • 41 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004819 29
  • 55.49 (n)
Worm
(Caenorhabditis elegans)
Secernentea yop-1 29 30
  • 53.33 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06601g 29
  • 46.93 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 29 30 32 32
  • 46.09 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR063W 29
  • 45.9 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06702 29
  • 55.06 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes yop1 29
  • 50.97 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11316 30
  • 48 (a)
OneToMany
Species where no ortholog for REEP5 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for REEP5 Gene

ENSEMBL:
Gene Tree for REEP5 (if available)
TreeFam:
Gene Tree for REEP5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for REEP5: view image
Alliance of Genome Resources:
Additional Orthologs for REEP5

Paralogs for REEP5 Gene

Paralogs for REEP5 Gene

(4) SIMAP similar genes for REEP5 Gene using alignment to 6 proteins:

  • REEP5_HUMAN
  • B7Z332_HUMAN
  • B7Z510_HUMAN
  • B7Z681_HUMAN
  • E2QRG8_HUMAN
  • H0Y8J8_HUMAN
genes like me logo Genes that share paralogs with REEP5: view

Variants for REEP5 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for REEP5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for REEP5 Gene

Variant ID Type Subtype PubMed ID
esv2667456 CNV deletion 23128226
esv26872 CNV loss 19812545
esv2730601 CNV deletion 23290073
esv2763866 CNV loss 21179565
esv3566464 CNV deletion 23714750
esv3570349 CNV loss 25503493
esv3606302 CNV loss 21293372
nsv4960 CNV deletion 18451855
nsv599394 CNV gain 21841781
nsv968976 CNV duplication 23825009

Variation tolerance for REEP5 Gene

Residual Variation Intolerance Score: 43.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REEP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REEP5
Leiden Open Variation Database (LOVD)
REEP5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for REEP5 Gene

Disorders for REEP5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for REEP5 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search REEP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for REEP5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with REEP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for REEP5 Gene

Publications for REEP5 Gene

  1. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H … Matsunami H (Cell 2004) 2 3 4
  2. REEP5 (Receptor Accessory Protein 5) Acts as a Sarcoplasmic Reticulum Membrane Sculptor to Modulate Cardiac Function. (PMID: 29431104) Yao L … Chen YH (Journal of the American Heart Association 2018) 2 3
  3. Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation. (PMID: 23969831) Chang J … Blackstone C (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40
  5. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. (PMID: 18839057) Lesch KP … Jacob C (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 40

Products for REEP5 Gene

Sources for REEP5 Gene