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Tbio Receptor expression-enhancing protein 3

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.

 Comments

Property Summary

NCBI Gene PubMed Count 16
PubMed Score 1.47
PubTator Score 1.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count
Arthritis 248
Autistic Disorder 320

Expression

  Differential Expression (13)

Disease log2 FC p
osteosarcoma 2.529 1.8e-04
ependymoma 1.400 4.1e-05
glioblastoma 2.700 5.4e-06
atypical teratoid / rhabdoid tumor 2.300 1.0e-04
medulloblastoma 1.600 7.2e-04
primary pancreatic ductal adenocarcinoma 2.171 9.5e-05
pancreatic cancer 1.700 6.3e-03
pediatric high grade glioma 2.000 2.8e-05
pilocytic astrocytoma 2.000 5.2e-06
aldosterone-producing adenoma -1.618 1.5e-02
spina bifida -2.112 3.7e-02
Pick disease -1.300 2.1e-02
progressive supranuclear palsy -1.700 1.3e-02

Synonym

Accession Q6NUK4 Q5JQR5 Q5QGT2 Q6PEW8 Q6PJY4
Symbols Yip2b
C10orf74

Gene

REEP3

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (13)

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 GO Component (3)

 GO Process (4)

 Compartment GO Term (30)

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 GWAS Trait (4)

 HCA RNA Cell Line (56)

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Pathway (5)

Gene RIF (5)

PMID Text
23911198 Our results show that REEP3/4 function redundantly to clear the endoplasmic reticulum from metaphase chromatin, thereby ensuring correct progression through mitosis and proper nuclear envelope architecture.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18940312 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
17290275 Receptor Expression-Enhancing Proteins (REEP) 3 is one of the six human homologs of yeast Yop1p, a probable regulator of cellular vesicle trafficking between the endoplasmatic reticulum and the Golgi network. Positional candidate gene for autism.
16385451 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence 

MVSWMISRAVVLVFGMLYPAYYSYKAVKTKNVKEYVRWMMYWIVFALYTVIETVADQTVAWFPLYYELKI      1 - 70
AFVIWLLSPYTKGASLIYRKFLHPLLSSKEREIDDYIVQAKERGYETMVNFGRQGLNLAATAAVTAAVKS     71 - 140
QGAITERLRSFSMHDLTTIQGDEPVGQRPYQPLPEAKKKSKPAPSESAGYGIPLKDGDEKTDEEAEGPYS    141 - 210
DNEMLTHKGLRRSQSMKSVKTTKGRKEVRYGSLKYKVKKRPQVYF                             211 - 255
//

Text Mined References (20)

PMID Year Title
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
24823311 2014 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24026423 2014 A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
23911198 2013 REEP3/4 ensure endoplasmic reticulum clearance from metaphase chromatin and proper nuclear envelope architecture.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22936694 2012 Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
22354554 2012 Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17290275 2007 Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16720576 2006 Members of RTP and REEP gene families influence functional bitter taste receptor expression.
16271481 2005 Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.
15550249 2004 RTP family members induce functional expression of mammalian odorant receptors.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.