Aliases for REEP4 Gene

Aliases for REEP4 Gene

  • Receptor Accessory Protein 4 2 3 5
  • Receptor Expression-Enhancing Protein 4 3 4
  • C8orf20 3 4
  • PP432 2 3
  • Yip2c 2 3
  • Chromosome 8 Open Reading Frame 20 2
  • FLJ22246 2
  • FLJ22277 2
  • REEP4 5

External Ids for REEP4 Gene

Previous HGNC Symbols for REEP4 Gene

  • C8orf20

Previous GeneCards Identifiers for REEP4 Gene

  • GC08M022052
  • GC08M020537
  • GC08M021995

Summaries for REEP4 Gene

GeneCards Summary for REEP4 Gene

REEP4 (Receptor Accessory Protein 4) is a Protein Coding gene. Diseases associated with REEP4 include Martsolf Syndrome and Spastic Paraplegia 31, Autosomal Dominant. Among its related pathways are Signaling by GPCR and Olfactory transduction. Gene Ontology (GO) annotations related to this gene include microtubule binding. An important paralog of this gene is REEP3.

UniProtKB/Swiss-Prot Summary for REEP4 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 REEP4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for REEP4 Gene

Genomics for REEP4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for REEP4 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
GH08J022138 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 608.5 +1.2 1151 4.6 SP1 HNRNPL GATAD2A CTCF PRDM10 IKZF1 ZNF692 POLR2A BACH1 JUND REEP4 lnc-LGI3-1 ENSG00000253200 CCAR2 C8orf58 XPO7 FAM160B2 POLR3D BIN3 ENSG00000251034
GH08J022143 Enhancer 0.7 ENCODE 600.7 -1.9 -1872 0.2 HNRNPL FOXA1 RFX1 SP1 RFX3 FOXA2 YY1 JUND SAP130 RCOR1 REEP4 SFTPC RF00017-6874
GH08J022164 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.4 -25.7 -25720 6.9 HNRNPL CTCF PRDM10 IKZF1 KDM1A ZNF692 BACH1 JUND LARP7 PRDM1 BMP1 ENSG00000177725 C8orf58 FAM160B2 ENSG00000253200 ENSG00000245025 SORBS3 REEP4 NPM2 POLR3D
GH08J022136 Promoter/Enhancer 1.2 EPDnew ENCODE 11 +4.6 4572 0.8 HNRNPL CTCF ZNF692 BACH1 JUND FOXA1 ZNF143 ZIC2 RBFOX2 RXRB HR piR-41195-081 REEP4 lnc-LGI3-1 RF00017-6874
GH08J022146 Enhancer 0.8 Ensembl ENCODE 9 -5.1 -5127 1.7 HNRNPL CTCF ZNF692 ZIC2 PATZ1 REST KLF9 MAX MAZ ZFHX2 REEP4 SORBS3 SFTPC LGI3 RF00017-6874
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around REEP4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REEP4

Top Transcription factor binding sites by QIAGEN in the REEP4 gene promoter:
  • AP-1
  • C/EBPalpha
  • GR
  • GR-alpha

Genomic Locations for REEP4 Gene

Genomic Locations for REEP4 Gene
chr8:22,138,020-22,141,951
(GRCh38/hg38)
Size:
3,932 bases
Orientation:
Minus strand
chr8:21,995,533-21,999,464
(GRCh37/hg19)
Size:
3,932 bases
Orientation:
Minus strand

Genomic View for REEP4 Gene

Genes around REEP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REEP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REEP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REEP4 Gene

Proteins for REEP4 Gene

  • Protein details for REEP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6H4-REEP4_HUMAN
    Recommended name:
    Receptor expression-enhancing protein 4
    Protein Accession:
    Q9H6H4
    Secondary Accessions:
    • D3DSQ9
    • Q86VL1
    • Q9H6I5
    • Q9HBP4

    Protein attributes for REEP4 Gene

    Size:
    257 amino acids
    Molecular mass:
    29395 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for REEP4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REEP4 Gene

Post-translational modifications for REEP4 Gene

  • Ubiquitination at Lys101, Lys111, and Lys123
  • Modification sites at PhosphoSitePlus

Other Protein References for REEP4 Gene

Antibody Products

  • Boster Bio Antibodies for REEP4
  • Santa Cruz Biotechnology (SCBT) Antibodies for REEP4

No data available for DME Specific Peptides for REEP4 Gene

Domains & Families for REEP4 Gene

Gene Families for REEP4 Gene

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

Protein Domains for REEP4 Gene

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

Suggested Antigen Peptide Sequences for REEP4 Gene

GenScript: Design optimal peptide antigens:
  • Receptor expression-enhancing protein 4 (REEP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H6H4

UniProtKB/Swiss-Prot:

REEP4_HUMAN :
  • Belongs to the DP1 family.
Family:
  • Belongs to the DP1 family.
genes like me logo Genes that share domains with REEP4: view

Function for REEP4 Gene

Molecular function for REEP4 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 REEP4 Gene

Gene Ontology (GO) - Molecular Function for REEP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding ISS --
genes like me logo Genes that share ontologies with REEP4: view
genes like me logo Genes that share phenotypes with REEP4: view

Animal Model Products

CRISPR Products

miRNA for REEP4 Gene

miRTarBase miRNAs that target REEP4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REEP4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for REEP4 Gene

Localization for REEP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REEP4 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 REEP4 gene
Compartment Confidence
endoplasmic reticulum 5
cytoskeleton 3
extracellular 2
cytosol 2
golgi apparatus 2
plasma membrane 1
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for REEP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 23911198
GO:0005789 endoplasmic reticulum membrane IEA,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 REEP4: view

Pathways & Interactions for REEP4 Gene

PathCards logo

SuperPathways for REEP4 Gene

genes like me logo Genes that share pathways with REEP4: view

Pathways by source for REEP4 Gene

Gene Ontology (GO) - Biological Process for REEP4 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 REEP4: view

No data available for SIGNOR curated interactions for REEP4 Gene

Drugs & Compounds for REEP4 Gene

No Compound Related Data Available

Transcripts for REEP4 Gene

mRNA/cDNA for REEP4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REEP4

Alternative Splicing Database (ASD) splice patterns (SP) for REEP4 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: -
SP5: -
SP6: -
SP7:

Relevant External Links for REEP4 Gene

GeneLoc Exon Structure for
REEP4

Expression for REEP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for REEP4 Gene

mRNA differential expression in normal tissues according to GTEx for REEP4 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x4.9), Esophagus - Mucosa (x4.7), and Skin - Sun Exposed (Lower leg) (x4.5).

Protein differential expression in normal tissues from HIPED for REEP4 Gene

This gene is overexpressed in Pancreas (13.8), Plasma (13.1), Placenta (12.7), and Peripheral blood mononuclear cells (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for REEP4 Gene



Protein tissue co-expression partners for REEP4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for REEP4

SOURCE GeneReport for Unigene cluster for REEP4 Gene:

Hs.289063

mRNA Expression by UniProt/SwissProt for REEP4 Gene:

Q9H6H4-REEP4_HUMAN
Tissue specificity: Expressed in circumvallate papillae and testis.

Evidence on tissue expression from TISSUES for REEP4 Gene

  • Liver(4.3)
  • Nervous system(2.3)
  • Skin(2.1)
  • Spleen(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with REEP4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for REEP4 Gene

Orthologs for REEP4 Gene

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

Orthologs for REEP4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia REEP4 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia REEP4 30 31
  • 88.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia REEP4 30 31
  • 88.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Reep4 30 17 31
  • 85.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Reep4 30
  • 84.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia REEP4 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia REEP4 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia REEP4 31
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia reep4 30
  • 66.28 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:101744 31
  • 26 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG5539 31
  • 17 (a)
ManyToMany
CG42678 31
  • 16 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea T19C3.4 31
  • 40 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 31
  • 18 (a)
OneToMany
Species where no ortholog for REEP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chicken (Gallus gallus)
  • 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 REEP4 Gene

ENSEMBL:
Gene Tree for REEP4 (if available)
TreeFam:
Gene Tree for REEP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for REEP4: view image

Paralogs for REEP4 Gene

Paralogs for REEP4 Gene

(5) SIMAP similar genes for REEP4 Gene using alignment to 4 proteins:

  • REEP4_HUMAN
  • E5RGS2_HUMAN
  • E5RIB5_HUMAN
  • E5RJV5_HUMAN
genes like me logo Genes that share paralogs with REEP4: view

Variants for REEP4 Gene

Additional dbSNP identifiers (rs#s) for REEP4 Gene

Structural Variations from Database of Genomic Variants (DGV) for REEP4 Gene

Variant ID Type Subtype PubMed ID
dgv12054n54 CNV loss 21841781
dgv12055n54 CNV loss 21841781
dgv881n27 CNV loss 19166990
esv2759604 CNV loss 17122850
nsv465613 CNV loss 19166990
nsv470204 CNV loss 18288195
nsv524720 CNV loss 19592680
nsv527293 CNV loss 19592680
nsv528590 CNV loss 19592680
nsv610765 CNV loss 21841781
nsv831263 CNV loss 17160897
nsv831264 CNV gain+loss 17160897

Variation tolerance for REEP4 Gene

Residual Variation Intolerance Score: 81.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.98; 49.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REEP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
REEP4

SNP Genotyping and Copy Number Assay Products

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 REEP4 Gene

Disorders for REEP4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for REEP4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
martsolf syndrome
  • cataract-mental retardation-hypogonadism
spastic paraplegia 31, autosomal dominant
  • spg31
spastic paraplegia 26, autosomal recessive
  • spg26
blepharospasm
- elite association - COSMIC cancer census association via MalaCards
Search REEP4 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with REEP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for REEP4 Gene

Publications for REEP4 Gene

  1. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H … Matsunami H (Cell 2004) 2 3 4
  2. 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
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark AJ … Huebner A (Trends in endocrinology and metabolism: TEM 2005) 2 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for REEP4 Gene

Sources for REEP4 Gene