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Aliases for REEP6 Gene

Aliases for REEP6 Gene

  • Receptor Accessory Protein 6 2 3 5
  • Polyposis Locus Protein 1-Like 1 2 3 4
  • Deleted In Polyposis 1-Like 1 2 3
  • C19orf32 3 4
  • DP1L1 3 4
  • Receptor Expression Enhancing Protein 6 3
  • Chromosome 19 Open Reading Frame 32 2
  • TB2L1 3
  • Yip2f 3

External Ids for REEP6 Gene

Previous HGNC Symbols for REEP6 Gene

  • C19orf32

Previous GeneCards Identifiers for REEP6 Gene

  • GC19P001444
  • GC19P001265

Summaries for REEP6 Gene

GeneCards Summary for REEP6 Gene

REEP6 (Receptor Accessory Protein 6) is a Protein Coding gene. An important paralog of this gene is REEP3.

UniProtKB/Swiss-Prot for REEP6 Gene

  • May play a role in intracellular protein transport from the endoplasmic reticulum to the cell surface. May play a role in retinal development (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REEP6 Gene

Genomics for REEP6 Gene

Regulatory Elements for REEP6 Gene

Promoters for REEP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around REEP6 on UCSC Golden Path with GeneCards custom track

Genomic Location for REEP6 Gene

Chromosome:
19
Start:
1,490,747 bp from pter
End:
1,497,927 bp from pter
Size:
7,181 bases
Orientation:
Plus strand

Genomic View for REEP6 Gene

Genes around REEP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REEP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REEP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REEP6 Gene

Proteins for REEP6 Gene

  • Protein details for REEP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HR9-REEP6_HUMAN
    Recommended name:
    Receptor expression-enhancing protein 6
    Protein Accession:
    Q96HR9
    Secondary Accessions:
    • B2RE01
    • D6W5Z0
    • Q96LM0

    Protein attributes for REEP6 Gene

    Size:
    184 amino acids
    Molecular mass:
    20733 Da
    Quaternary structure:
    No Data Available

neXtProt entry for REEP6 Gene

Proteomics data for REEP6 Gene at MOPED

Post-translational modifications for REEP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for REEP6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for REEP6 Gene

Domains & Families for REEP6 Gene

Gene Families for REEP6 Gene

Protein Domains for REEP6 Gene

Suggested Antigen Peptide Sequences for REEP6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96HR9

UniProtKB/Swiss-Prot:

REEP6_HUMAN :
  • Belongs to the DP1 family.
Family:
  • Belongs to the DP1 family.
genes like me logo Genes that share domains with REEP6: view

Function for REEP6 Gene

Molecular function for REEP6 Gene

UniProtKB/Swiss-Prot Function:
May play a role in intracellular protein transport from the endoplasmic reticulum to the cell surface. May play a role in retinal development (By similarity).
genes like me logo Genes that share phenotypes with REEP6: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for REEP6 Gene

Localization for REEP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REEP6 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for REEP6 Gene COMPARTMENTS Subcellular localization image for REEP6 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 3
extracellular 2
plasma membrane 2
cytosol 1

Gene Ontology (GO) - Cellular Components for REEP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0044317 rod spherule IEA --
genes like me logo Genes that share ontologies with REEP6: view

Pathways & Interactions for REEP6 Gene

SuperPathways for REEP6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for REEP6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for REEP6 Gene

Drugs & Compounds for REEP6 Gene

No Compound Related Data Available

Transcripts for REEP6 Gene

Unigene Clusters for REEP6 Gene

Receptor accessory protein 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for REEP6 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b
SP1: -
SP2: -
SP3:

Relevant External Links for REEP6 Gene

GeneLoc Exon Structure for
REEP6
ECgene alternative splicing isoforms for
REEP6

Expression for REEP6 Gene

mRNA expression in normal human tissues for REEP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for REEP6 Gene

This gene is overexpressed in Liver (x15.6), Testis (x13.3), and Adrenal Gland (x4.1).

Protein differential expression in normal tissues from HIPED for REEP6 Gene

This gene is overexpressed in Liver (16.8) and Liver, secretome (16.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for REEP6 Gene



SOURCE GeneReport for Unigene cluster for REEP6 Gene Hs.76277

mRNA Expression by UniProt/SwissProt for REEP6 Gene

Q96HR9-REEP6_HUMAN
Tissue specificity: Expressed in circumvallate papillae and testis.
genes like me logo Genes that share expression patterns with REEP6: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for REEP6 Gene

Orthologs for REEP6 Gene

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

Orthologs for REEP6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia REEP6 35
  • 83.33 (n)
  • 80.56 (a)
REEP6 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reep6 35
  • 80.29 (n)
  • 80.11 (a)
Reep6 16
Reep6 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Reep6 35
  • 83.04 (n)
  • 81.5 (a)
dog
(Canis familiaris)
Mammalia REEP6 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia REEP6 36
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia REEP6 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves REEP6 35
  • 69.05 (n)
  • 65.71 (a)
REEP6 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia reep6 35
  • 62.43 (n)
  • 60.12 (a)
zebrafish
(Danio rerio)
Actinopterygii reep6 35
  • 61.96 (n)
  • 60.59 (a)
reep6 36
  • 50 (a)
OneToMany
reep6 36
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4960 36
  • 40 (a)
ManyToMany
CG8331 36
  • 46 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea yop-1 36
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 36
  • 32 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3091 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11316 36
  • 44 (a)
OneToMany
Species with no ortholog for REEP6:
  • A. gosspyii yeast (Ashbya 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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 REEP6 Gene

ENSEMBL:
Gene Tree for REEP6 (if available)
TreeFam:
Gene Tree for REEP6 (if available)

Paralogs for REEP6 Gene

Paralogs for REEP6 Gene

(4) SIMAP similar genes for REEP6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with REEP6: view

Variants for REEP6 Gene

Sequence variations from dbSNP and Humsavar for REEP6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2271412 - 1,496,385(-) CTACG(G/T)CCCCG reference, missense
rs791474 -- 1,493,044(+) CAGGG(G/T)CTGCC intron-variant
rs2277748 -- 1,495,635(+) CAGCC(A/G)TGGAG intron-variant
rs2292456 -- 1,497,145(-) GGAGG(A/G)CCGTG intron-variant
rs1050017 -- 1,497,544(+) CCTCC(A/G)GCCCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for REEP6 Gene

Variant ID Type Subtype PubMed ID
nsv910292 CNV Loss 21882294
dgv1055e1 CNV Complex 17122850
dgv3580n71 CNV Loss 21882294
dgv3583n71 CNV Loss 21882294
dgv3589n71 CNV Loss 21882294
dgv3596n71 CNV Loss 21882294
esv32942 CNV Gain+Loss 17666407
dgv3598n71 CNV Loss 21882294
nsv910491 CNV Gain+Loss 21882294
dgv3599n71 CNV Loss 21882294
essv18235 CNV CNV 17122850
nsv833705 CNV Loss 17160897
nsv910499 CNV Loss 21882294
dgv3600n71 CNV Loss 21882294
dgv3601n71 CNV Loss 21882294
dgv3602n71 CNV Loss 21882294
nsv910507 CNV Loss 21882294
dgv3603n71 CNV Loss 21882294
nsv470105 CNV Gain 18288195
dgv3604n71 CNV Gain+Loss 21882294
nsv910517 CNV Loss 21882294
nsv470106 CNV Loss 18288195
nsv910520 CNV Loss 21882294
esv2717844 CNV Deletion 23290073
nsv910521 CNV Loss 21882294

Variation tolerance for REEP6 Gene

Residual Variation Intolerance Score: 87.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 42.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REEP6 Gene

HapMap Linkage Disequilibrium report
REEP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REEP6 Gene

Disorders for REEP6 Gene

Relevant External Links for REEP6

Genetic Association Database (GAD)
REEP6
Human Genome Epidemiology (HuGE) Navigator
REEP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
REEP6

No disorders were found for REEP6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for REEP6 Gene

Publications for REEP6 Gene

  1. RTP family members induce functional expression of mammalian odorant receptors. (PMID: 15550249) Saito H. … Matsunami H. (Cell 2004) 2 3 4 67
  2. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark A.J. … Huebner A. (Trends Endocrinol. Metab. 2005) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H. … Vidal M. (Nat. Methods 2011) 3

Products for REEP6 Gene

Sources for REEP6 Gene

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