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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
  • REEP6.1 3
  • REEP6.2 3
  • TB2L1 3
  • Yip2f 3
  • RP77 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. Diseases associated with REEP6 include Retinitis Pigmentosa 77 and Retinitis Pigmentosa. Among its related pathways are Signaling by GPCR and Olfactory Signaling Pathway. An important paralog of this gene is REEP5.

UniProtKB/Swiss-Prot for REEP6 Gene

  • May play a role in intracellular protein transport from the endoplasmic reticulum to the cell surface (By similarity). Required for correct function and survival of retinal photoreceptors (PubMed:27889058).

No data available for Entrez Gene Summary , CIViC 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

Enhancers for REEP6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G001442 1.7 FANTOM5 ENCODE dbSUPER 12.2 -46.4 -46446 3.2 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 APC2 SF3A2 LOC100288123 TMEM259 C19orf24 C19orf25 PCSK4 REEP6 SCAMP4 ENSG00000267317
GH19G001502 1.6 Ensembl ENCODE dbSUPER 9.5 +13.0 12968 1.5 PKNOX1 CREB3L1 AGO1 ARID4B ZNF2 ZNF143 ZNF263 NFYC MXD4 REST REEP6 PCSK4 ENSG00000267092
GH19G001489 1.6 Ensembl ENCODE dbSUPER 9.3 +1.6 1560 5.7 HDGF PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A YY1 ZNF207 ZNF143 PCSK4 SF3A2 LOC100288123 TMEM259 ENSG00000267317 POLRMT REEP6 ENSG00000267092
GH19G001441 1 ENCODE dbSUPER 12.2 -48.5 -48532 0.6 ARNT TAL1 INSM2 ZNF384 HIC1 GLIS2 NCOR1 POLR2A PATZ1 ZNF600 C19orf25 PCSK4 REEP6 ENSG00000268798 APC2
GH19G001464 1.5 Ensembl ENCODE dbSUPER 7.4 -20.6 -20560 10.5 AGO1 ZFP64 GLI4 ZNF2 GLIS2 KLF7 KLF13 DEK SP3 TAF15 CIRBP RPS15 REXO1 ATP8B3 TCF3 REEP6 C19orf25 PIR35020 ENSG00000267317
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around REEP6 on UCSC Golden Path with GeneCards custom track

Promoters for REEP6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000105701 -47 1401 HDGF PKNOX1 AGO1 WRNIP1 ARID4B SIN3A YY1 ZNF207 ZNF143 FOS

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:
    • A0A1L5BXV3
    • B2RE01
    • D6W5Z0
    • Q96LM0

    Protein attributes for REEP6 Gene

    Size:
    211 amino acids
    Molecular mass:
    23418 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for REEP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REEP6 Gene

Post-translational modifications for REEP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for REEP6 Gene

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 (By similarity). Required for correct function and survival of retinal photoreceptors (PubMed:27889058).

Gene Ontology (GO) - Molecular Function for REEP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with REEP6: view
genes like me logo Genes that share phenotypes with REEP6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 REEP6 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
plasma membrane 2
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for REEP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IDA 27889058
GO:0005634 nucleus IDA 21630459
GO:0005783 endoplasmic reticulum IDA 27889058
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with REEP6: view

Pathways & Interactions for REEP6 Gene

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

Pathways by source for REEP6 Gene

Gene Ontology (GO) - Biological Process for REEP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0032386 regulation of intracellular transport IEA --
GO:0050908 detection of light stimulus involved in visual perception IMP 27889058
genes like me logo Genes that share ontologies with REEP6: view

No data available for 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for REEP6 Gene



NURSA nuclear receptor signaling pathways regulating expression of REEP6 Gene:

REEP6

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 (PubMed:16720576). Expressed in the retina. Isoform 1 is predominantly present in mature optic cups. Isoform 1 expression is confined to the cell body and inner segment of developing rod photoreceptor cells (PubMed:27889058).

Evidence on tissue expression from TISSUES for REEP6 Gene

  • Liver(4.6)
  • Eye(4.4)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with REEP6: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 83.33 (n)
rat
(Rattus norvegicus)
Mammalia Reep6 34
  • 83.04 (n)
dog
(Canis familiaris)
Mammalia REEP6 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Reep6 34 16 35
  • 80.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia REEP6 35
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia REEP6 35
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves REEP6 34 35
  • 69.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia reep6 34
  • 62.43 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100536786 34
  • 61.96 (n)
reep6 35 35
  • 50 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8331 35
  • 46 (a)
ManyToMany
CG4960 35
  • 40 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea yop-1 35
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11316 35
  • 44 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3091 34
Species where no ortholog for REEP6 was found in the sources mined by GeneCards:
  • 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
VAR_077931 Retinitis pigmentosa 77 (RP77) [MIM:617304]
VAR_077932 Retinitis pigmentosa 77 (RP77) [MIM:617304]
rs1057519316 Pathogenic 1,496,340(+) CATGC(C/T)GTATC reference, missense
rs1057519317 Pathogenic 1,496,319(+) CAGGC(C/T)CTGGA reference, missense
rs1057519341 Pathogenic 1,496,384(+) ACGGG(-/G)CCGTA reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
esv2717844 CNV deletion 23290073
esv2758743 CNV gain+loss 17122850
esv32942 CNV gain+loss 17666407
esv3643399 CNV loss 21293372
nsv470105 CNV gain 18288195
nsv470106 CNV loss 18288195
nsv578279 CNV gain 21841781
nsv578295 CNV gain 21841781
nsv578296 CNV loss 21841781
nsv833705 CNV loss 17160897
nsv953942 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
REEP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
REEP6

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

Disorders for REEP6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for REEP6 Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 77
  • rp77
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search REEP6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

REEP6_HUMAN
  • Retinitis pigmentosa 77 (RP77) [MIM:617304]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP77 inheritance is autosomal recessive. {ECO:0000269 PubMed:27889058}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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

No data available for 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 64
  2. Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa. (PMID: 27889058) Arno G. … Chen R. (Am. J. Hum. Genet. 2016) 3 4 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease. (PMID: 19924442) Wellmann A. … Brinkmann U. (J. Cancer Res. Clin. Oncol. 2010) 3 46 64
  5. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark A.J. … Huebner A. (Trends Endocrinol. Metab. 2005) 2 3 64

Products for REEP6 Gene

Sources for REEP6 Gene

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