Aliases for REEP3 Gene

Aliases for REEP3 Gene

  • Receptor Accessory Protein 3 2 3 5
  • Receptor Expression-Enhancing Protein 3 3 4
  • C10orf74 3 4
  • Yip2b 2 3
  • Chromosome 10 Open Reading Frame 74 2
  • REEP3 5

External Ids for REEP3 Gene

Previous HGNC Symbols for REEP3 Gene

  • C10orf74

Previous GeneCards Identifiers for REEP3 Gene

  • GC10P064952
  • GC10P065281
  • GC10P059317

Summaries for REEP3 Gene

GeneCards Summary for REEP3 Gene

REEP3 (Receptor Accessory Protein 3) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Olfactory transduction. An important paralog of this gene is REEP4.

UniProtKB/Swiss-Prot Summary for REEP3 Gene

  • Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for REEP3 Gene

Genomics for REEP3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for REEP3 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 REEP3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REEP3

Top Transcription factor binding sites by QIAGEN in the REEP3 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Myc
  • ER-alpha
  • FOXJ2 (long isoform)
  • HTF
  • Max1
  • Sox9

Genomic Locations for REEP3 Gene

Latest Assembly
chr10:63,521,353-63,625,128
(GRCh38/hg38)
Size:
103,776 bases
Orientation:
Plus strand

Previous Assembly
chr10:65,281,161-65,384,888
(GRCh37/hg19 by Entrez Gene)
Size:
103,728 bases
Orientation:
Plus strand

chr10:65,281,123-65,384,883
(GRCh37/hg19 by Ensembl)
Size:
103,761 bases
Orientation:
Plus strand

Genomic View for REEP3 Gene

Genes around REEP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REEP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REEP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REEP3 Gene

Proteins for REEP3 Gene

  • Protein details for REEP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NUK4-REEP3_HUMAN
    Recommended name:
    Receptor expression-enhancing protein 3
    Protein Accession:
    Q6NUK4
    Secondary Accessions:
    • Q5JQR5
    • Q5QGT2
    • Q6PEW8
    • Q6PJY4

    Protein attributes for REEP3 Gene

    Size:
    255 amino acids
    Molecular mass:
    29264 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH10040.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for REEP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REEP3 Gene

Post-translational modifications for REEP3 Gene

  • Ubiquitination at Lys99 and Lys111
  • Modification sites at PhosphoSitePlus

Other Protein References for REEP3 Gene

Antibodies for research

  • Abcam antibodies for REEP3
  • Boster Bio Antibodies for REEP3

No data available for DME Specific Peptides for REEP3 Gene

Domains & Families for REEP3 Gene

Gene Families for REEP3 Gene

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

Protein Domains for REEP3 Gene

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

Suggested Antigen Peptide Sequences for REEP3 Gene

GenScript: Design optimal peptide antigens:
  • REEP3 protein (Q8WV73_HUMAN)
  • Receptor expression-enhancing protein 3 (REEP3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6NUK4

UniProtKB/Swiss-Prot:

REEP3_HUMAN :
  • Belongs to the DP1 family.
Family:
  • Belongs to the DP1 family.
genes like me logo Genes that share domains with REEP3: view

Function for REEP3 Gene

Molecular function for REEP3 Gene

UniProtKB/Swiss-Prot Function:
Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes.

Phenotypes From GWAS Catalog for REEP3 Gene

Gene Ontology (GO) - Molecular Function for REEP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0008017 microtubule binding IBA 21873635
genes like me logo Genes that share ontologies with REEP3: view
genes like me logo Genes that share phenotypes with REEP3: view

miRNA for REEP3 Gene

miRTarBase miRNAs that target REEP3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REEP3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for REEP3 Gene

Localization for REEP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REEP3 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

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 REEP3 gene
Compartment Confidence
endoplasmic reticulum 4
cytoskeleton 3
golgi apparatus 2
plasma membrane 1
extracellular 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for REEP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA 21873635
GO:0005874 microtubule IEA --
GO:0005881 cytoplasmic microtubule IBA 21873635
GO:0016020 membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with REEP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for REEP3 Gene

Pathways & Interactions for REEP3 Gene

PathCards logo

SuperPathways for REEP3 Gene

genes like me logo Genes that share pathways with REEP3: view

Pathways by source for REEP3 Gene

Gene Ontology (GO) - Biological Process for REEP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006998 nuclear envelope organization IMP 23911198
GO:0007049 cell cycle IEA --
GO:0007084 mitotic nuclear envelope reassembly IMP 23911198
GO:0051301 cell division IEA --
GO:0071786 endoplasmic reticulum tubular network organization IBA 21873635
genes like me logo Genes that share ontologies with REEP3: view

No data available for SIGNOR curated interactions for REEP3 Gene

Drugs & Compounds for REEP3 Gene

No Compound Related Data Available

Transcripts for REEP3 Gene

mRNA/cDNA for REEP3 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
2 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 REEP3

Alternative Splicing Database (ASD) splice patterns (SP) for REEP3 Gene

No ASD Table

Relevant External Links for REEP3 Gene

GeneLoc Exon Structure for
REEP3

Expression for REEP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for REEP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for REEP3 Gene

This gene is overexpressed in Nasal epithelium (60.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for REEP3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for REEP3

SOURCE GeneReport for Unigene cluster for REEP3 Gene:

Hs.499833

mRNA Expression by UniProt/SwissProt for REEP3 Gene:

Q6NUK4-REEP3_HUMAN
Tissue specificity: Expressed in circumvallate papillae.

Evidence on tissue expression from TISSUES for REEP3 Gene

  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with REEP3: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for REEP3 Gene

Orthologs for REEP3 Gene

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

Orthologs for REEP3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia REEP3 29 30
  • 99.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia REEP3 29 30
  • 91.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia REEP3 29 30
  • 91.53 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia REEP3 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Reep3 29 16 30
  • 84.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Reep3 29
  • 83.33 (n)
Oppossum
(Monodelphis domestica)
Mammalia REEP3 30
  • 83 (a)
OneToOne
Chicken
(Gallus gallus)
Aves REEP3 29 30
  • 79.22 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia REEP3 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia reep3 29
  • 71.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68764 29
Zebrafish
(Danio rerio)
Actinopterygii reep3b 29 30
  • 66.26 (n)
OneToMany
reep3a 30
  • 64 (a)
OneToMany
zgc55529 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG5539 30
  • 16 (a)
ManyToMany
CG42678 30
  • 14 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea T19C3.4 30
  • 37 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 30
  • 20 (a)
OneToMany
Species where no ortholog for REEP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 REEP3 Gene

ENSEMBL:
Gene Tree for REEP3 (if available)
TreeFam:
Gene Tree for REEP3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for REEP3: view image
Alliance of Genome Resources:
Additional Orthologs for REEP3

Paralogs for REEP3 Gene

Paralogs for REEP3 Gene

(3) SIMAP similar genes for REEP3 Gene using alignment to 2 proteins:

  • REEP3_HUMAN
  • Q8WV73_HUMAN
genes like me logo Genes that share paralogs with REEP3: view

Variants for REEP3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for REEP3 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs10995569 Benign: not provided 63,610,281(+) A/Gp.Gln171Arg
NM_001001330.3(REEP3):c.512A>G (p.Gln171Arg)
MISSENSE
rs1203134212 Likely Benign: not provided 63,619,755(+) A/G
NM_001001330.3(REEP3):c.666A>G (p.Arg222=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for REEP3 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 REEP3 Gene

Variant ID Type Subtype PubMed ID
dgv1202n54 CNV gain 21841781
esv22964 CNV loss 19812545
esv2334532 CNV deletion 18987734
esv2737640 CNV deletion 23290073
esv3429584 CNV insertion 20981092
nsv1112591 CNV deletion 24896259
nsv551184 CNV gain 21841781
nsv551187 CNV loss 21841781
nsv551188 CNV loss 21841781

Variation tolerance for REEP3 Gene

Residual Variation Intolerance Score: 46.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REEP3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REEP3
Leiden Open Variation Database (LOVD)
REEP3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REEP3 Gene

Disorders for REEP3 Gene

Additional Disease Information for REEP3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for REEP3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for REEP3 Gene

Publications for REEP3 Gene

  1. Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. (PMID: 17290275) Castermans D … Devriendt K (European journal of human genetics : EJHG 2007) 3 4 22
  2. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H … Matsunami H (Cell 2004) 2 3 4
  3. REEP3/4 ensure endoplasmic reticulum clearance from metaphase chromatin and proper nuclear envelope architecture. (PMID: 23911198) Schlaitz AL … Heald R (Developmental cell 2013) 3 4
  4. Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. (PMID: 22354554) Thompson SD … Glass DN (Arthritis and rheumatism 2012) 3 40
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for REEP3 Gene

Sources for REEP3 Gene