REEP3 receptor accessory protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: REEP3provided by HGNC
Official Full Name: receptor accessory protein 3provided by HGNC
Primary source: HGNC:HGNC:23711
See related: Ensembl:ENSG00000165476 MIM:609348; AllianceGenome:HGNC:23711
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Yip2b; C10orf74
Summary: Predicted to enable microtubule binding activity. Involved in mitotic nuclear membrane reassembly. Predicted to be located in endoplasmic reticulum; membrane; and microtubule. Predicted to be active in cytoplasmic microtubule; endoplasmic reticulum membrane; and endoplasmic reticulum tubular network. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in fat (RPKM 7.0), small intestine (RPKM 6.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q21.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (63521401..63625128)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (64379547..64483523)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (65281161..65384888)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

REEP3 is a potential diagnostic and prognostic biomarker correlated with immune infiltration in pancreatic cancer.
Title: REEP3 is a potential diagnostic and prognostic biomarker correlated with immune infiltration in pancreatic cancer.
CircFAT1 promotes hepatocellular carcinoma progression via miR-30a-5p/REEP3 pathway.
Title: CircFAT1 promotes hepatocellular carcinoma progression via miR-30a-5p/REEP3 pathway.
the endoplasmic reticulum (ER) membrane proteins REEP3 and REEP4 as major determinants of ER morphology in metaphase cells.
Title: REEP3 and REEP4 determine the tubular morphology of the endoplasmic reticulum during mitosis.
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.
Title: REEP3/4 ensure endoplasmic reticulum clearance from metaphase chromatin and proper nuclear envelope architecture.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
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.
Title: Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W16868 (e-PCR)
- UniSTS:20527

SHGC-3980 (e-PCR)
- UniSTS:21299

RH69842 (e-PCR)
- UniSTS:4155

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum tubular network organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic nuclear membrane reassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear envelope organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasmic microtubule	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in endoplasmic reticulum tubular network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: receptor expression-enhancing protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001001330.3 → NP_001001330.1 receptor expression-enhancing protein 3

See identical proteins and their annotated locations for NP_001001330.1

Status: VALIDATED

Source sequence(s)

AC022387, BC068557

Consensus CDS

CCDS44411.1

UniProtKB/Swiss-Prot

Q5JQR5, Q5QGT2, Q6NUK4, Q6PEW8, Q6PJY4

UniProtKB/TrEMBL

A8K1R1, X5DR89

Related

ENSP00000362863.4, ENST00000373758.5

Conserved Domains (1) summary

pfam03134
Location:19 → 95

TB2_DP1_HVA22; TB2/DP1, HVA22 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

63521401..63625128

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011539501.3 → XP_011537803.1 receptor expression-enhancing protein 3 isoform X1

See identical proteins and their annotated locations for XP_011537803.1

UniProtKB/TrEMBL

X5DP57

Conserved Domains (1) summary

pfam03134
Location:7 → 94

TB2_DP1_HVA22; TB2/DP1, HVA22 family
XM_017015896.2 → XP_016871385.1 receptor expression-enhancing protein 3 isoform X1

UniProtKB/TrEMBL

X5DP57

Conserved Domains (1) summary

pfam03134
Location:7 → 94

TB2_DP1_HVA22; TB2/DP1, HVA22 family

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

64379547..64483523

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054365103.1 → XP_054221078.1 receptor expression-enhancing protein 3 isoform X1

UniProtKB/TrEMBL

X5DP57
XM_054365104.1 → XP_054221079.1 receptor expression-enhancing protein 3 isoform X1

UniProtKB/TrEMBL

X5DP57