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Aliases for REEP3 Gene

Aliases for REEP3 Gene

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

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 Signaling Pathway. An important paralog of this gene is REEP4.

UniProtKB/Swiss-Prot 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.

Additional gene information for REEP3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REEP3 Gene

Genomics for REEP3 Gene

GeneHancer (GH) Regulatory Elements for REEP3 Gene

Promoters and enhancers for REEP3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I063519 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 557.4 +0.5 533 5.2 HDGF PKNOX1 FOXA2 ARNT SIN3A DMAP1 ZNF2 ZNF766 CBX5 ZNF213 JMJD1C REEP3 JMJD1C-AS1 DBF4P1 NRBF2 GC10P063512 GC10M063572
GH10I063463 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 17.1 -55.6 -55615 3.6 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B POLR2B ZNF766 CBX5 JMJD1C-AS1 JMJD1C REEP3 NRBF2 MRPL35P2 ENSG00000224412
GH10I063627 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +108.7 108737 5.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 POLR2B LOC101929846 REEP3 MRPL35P2 LOC105378329
GH10I063132 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.9 -387.6 -387649 2.4 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 NRBF2 MRPL35P2 JMJD1C REEP3 TATDN1P1
GH10I063113 Enhancer 1.2 Ensembl ENCODE 13.8 -406.2 -406209 3.1 ATF1 FOXA2 ARID4B DMAP1 ETS1 YY1 POLR2B ZNF766 ATF7 RXRA MRPL35P2 REEP3 JMJD1C NRBF2 JMJD1C-AS1 RNU6-543P LOC105378328
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around REEP3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the REEP3 gene promoter:

Genomic Locations for REEP3 Gene

Genomic Locations for REEP3 Gene
chr10:63,521,353-63,625,123
(GRCh38/hg38)
Size:
103,771 bases
Orientation:
Plus strand
chr10:65,281,123-65,384,883
(GRCh37/hg19)

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 isoforms=2111

Other Protein References for REEP3 Gene

No data available for DME Specific Peptides for REEP3 Gene

Domains & Families for REEP3 Gene

Gene Families for REEP3 Gene

Protein Domains for REEP3 Gene

Suggested Antigen Peptide Sequences for REEP3 Gene

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

Phenotypes for REEP3 Gene

GenomeRNAi human phenotypes for REEP3:
genes like me logo Genes that share phenotypes with REEP3: view

Animal Model Products

miRNA for REEP3 Gene

miRTarBase miRNAs that target REEP3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
peroxisome 1

Gene Ontology (GO) - Cellular Components for REEP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005874 microtubule IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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

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

Pathways by source for REEP3 Gene

Interacting Proteins 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 --
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

Unigene Clusters for REEP3 Gene

Receptor accessory protein 3:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for REEP3 Gene

GeneLoc Exon Structure for
REEP3
ECgene alternative splicing isoforms for
REEP3

Expression for REEP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for REEP3 Gene



NURSA nuclear receptor signaling pathways regulating expression of REEP3 Gene:

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.
genes like me logo Genes that share expression patterns with REEP3: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES 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 33 34
  • 99.59 (n)
cow
(Bos Taurus)
Mammalia REEP3 33 34
  • 91.76 (n)
dog
(Canis familiaris)
Mammalia REEP3 33 34
  • 91.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia REEP3 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reep3 33 16 34
  • 84.38 (n)
rat
(Rattus norvegicus)
Mammalia Reep3 33
  • 83.33 (n)
oppossum
(Monodelphis domestica)
Mammalia REEP3 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves REEP3 33 34
  • 79.22 (n)
lizard
(Anolis carolinensis)
Reptilia REEP3 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reep3 33
  • 71.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68764 33
zebrafish
(Danio rerio)
Actinopterygii reep3b 33 34
  • 66.26 (n)
reep3a 34
  • 64 (a)
OneToMany
zgc55529 33
fruit fly
(Drosophila melanogaster)
Insecta CG5539 34
  • 16 (a)
ManyToMany
CG42678 34
  • 14 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T19C3.4 34
  • 37 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 34
  • 20 (a)
OneToMany
Species where no ortholog for REEP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for REEP3 Gene

Paralogs for REEP3 Gene

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

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

Variants for REEP3 Gene

Sequence variations from dbSNP and Humsavar for REEP3 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000026624 -- 63,529,671(+) T/A intron_variant
rs1000028363 -- 63,593,127(+) A/G intron_variant
rs1000038389 -- 63,622,215(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1000071449 -- 63,552,402(+) C/T intron_variant
rs1000123431 -- 63,552,730(+) T/C intron_variant

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

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

Disorders for REEP3 Gene

Additional Disease Information for REEP3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 58
  2. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H … Matsunami H (Cell 2004) 2 3 4 58
  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 58
  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 44 58
  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 44 58

Products for REEP3 Gene

Sources for REEP3 Gene

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