The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provide... See more...

Aliases for REEP6 Gene

Aliases for REEP6 Gene

  • Receptor Accessory Protein 6 2 3 5
  • Polyposis Locus Protein 1-Like 1 2 3 4
  • DP1L1 2 3 4
  • Receptor Expression-Enhancing Protein 6 3 4
  • Deleted In Polyposis 1-Like 1 2 3
  • C19orf32 3 4
  • Yip2f 2 3
  • Chromosome 19 Open Reading Frame 32 2
  • FLJ25383 2
  • REEP6.1 3
  • REEP6.2 3
  • TB2L1 3
  • REEP6 5
  • 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

Entrez Gene Summary for REEP6 Gene

  • The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]

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 transduction. An important paralog of this gene is REEP5.

UniProtKB/Swiss-Prot Summary for REEP6 Gene

  • Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for REEP6 Gene

Genomics for REEP6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for REEP6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around REEP6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REEP6

Top Transcription factor binding sites by QIAGEN in the REEP6 gene promoter:
  • AML1a
  • c-Myc
  • E47
  • LUN-1
  • Max
  • Spz1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • YY1

Genomic Locations for REEP6 Gene

Genomic Locations for REEP6 Gene
chr19:1,491,166-1,497,927
(GRCh38/hg38)
Size:
6,762 bases
Orientation:
Plus strand
chr19:1,491,165-1,497,926
(GRCh37/hg19)
Size:
6,762 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:
    • Interacts with STX3 (By similarity). Interacts with clathrin (By similarity).

    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

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

Protein Domains for REEP6 Gene

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

Suggested Antigen Peptide Sequences for REEP6 Gene

GenScript: Design optimal peptide antigens:
  • Polyposis locus protein 1-like 1 (REEP6_HUMAN)

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:
Required for correct function and survival of retinal photoreceptors (PubMed:27889058). Required for retinal development (By similarity). In rod photoreceptors, facilitates stability and/or trafficking of guanylate cyclases and is required to maintain endoplasmic reticulum and mitochondrial homeostasis (By similarity). May play a role in clathrin-coated intracellular vesicle trafficking of proteins from the endoplasmic reticulum to the retinal rod plasma membrane (By similarity).

Gene Ontology (GO) - Molecular Function for REEP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

Human Phenotype Ontology for REEP6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for REEP6

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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. Cytoplasmic vesicle, clathrin-coated vesicle 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
endoplasmic reticulum 5
nucleus 4
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

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 HDA 21630459
GO:0005783 endoplasmic reticulum IEA,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

PathCards logo

SuperPathways 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: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

mRNA/cDNA for REEP6 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 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 REEP6

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

Expression for REEP6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for REEP6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.7)
  • Eye(4.4)
  • Nervous system(2.7)
  • Kidney(2.6)
genes like me logo Genes that share expression patterns with REEP6: view

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 30 31
  • 83.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Reep6 30
  • 83.04 (n)
Dog
(Canis familiaris)
Mammalia REEP6 31
  • 82 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Reep6 30 17 31
  • 80.29 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia REEP6 31
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia REEP6 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves REEP6 30 31
  • 69.05 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia reep6 30
  • 62.43 (n)
Zebrafish
(Danio rerio)
Actinopterygii reep6 30 31 31
  • 61.96 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG8331 31
  • 46 (a)
ManyToMany
CG4960 31
  • 40 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea yop-1 31
  • 42 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOP1 31
  • 32 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11316 31
  • 44 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3091 30
Species where no ortholog for REEP6 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for REEP6: view image

Paralogs for REEP6 Gene

Paralogs for REEP6 Gene

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

  • REEP6_HUMAN
  • A8MWX0_HUMAN
  • A8MXN1_HUMAN
genes like me logo Genes that share paralogs with REEP6: view

Variants for REEP6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for REEP6 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
713485 Likely Benign: not provided 1,495,299(+) G/A MISSENSE_VARIANT
715887 Benign: not provided 1,496,349(+) G/A MISSENSE_VARIANT
730972 Likely Benign: not provided 1,495,305(+) C/T SYNONYMOUS_VARIANT
748462 Likely Benign: not provided 1,496,434(+) G/A SYNONYMOUS_VARIANT
777350 Benign: not provided 1,495,328(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for REEP6 Gene

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)

Additional Variant Information for REEP6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for REEP6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for REEP6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 77
  • rp77
retinitis pigmentosa
  • retinitis pigmentosa 1
chromosome 6q24-q25 deletion syndrome
  • chromosome 6q25-q25 deletion syndrome
fundus dystrophy
  • retinal dystrophy
- 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, ECO:0000269 PubMed:28369466, ECO:0000269 PubMed:29120066}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for REEP6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  2. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. (PMID: 27889058) Arno G … Chen R (American journal of human genetics 2016) 3 4
  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 SD … DREAM investigators (Diabetes care 2010) 3 41
  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 (Journal of cancer research and clinical oncology 2010) 3 41
  5. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. (PMID: 16271481) Clark AJ … Huebner A (Trends in endocrinology and metabolism: TEM 2005) 2 3

Products for REEP6 Gene

Sources for REEP6 Gene