Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
92840
Gene name Gene Name - the full gene name approved by the HGNC.
Receptor accessory protein 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
REEP6
Synonyms (NCBI Gene) Gene synonyms aliases
C19orf32, DP1L1, REEP6.1, REEP6.2, RP77, TB1, TB2L1, Yip2f
Disease Acronyms (UniProt) Disease acronyms from UniProt database
RP77
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Summary Summary of gene provided in NCBI Entrez 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 deve
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1057519316 T>C Pathogenic Coding sequence variant, missense variant
rs1057519317 C>T Pathogenic Coding sequence variant, missense variant
rs1057519341 G>- Pathogenic Coding sequence variant, frameshift variant
rs1057519427 ->C Pathogenic Coding sequence variant, intron variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1299909 hsa-miR-1205 CLIP-seq
MIRT1299910 hsa-miR-1207-5p CLIP-seq
MIRT1299911 hsa-miR-125a-3p CLIP-seq
MIRT1299912 hsa-miR-1262 CLIP-seq
MIRT1299913 hsa-miR-1293 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001917 Component Photoreceptor inner segment IDA 27889058
GO:0005515 Function Protein binding IPI 16189514, 21516116, 21988832, 25416956, 25910212, 31515488
GO:0005634 Component Nucleus HDA 21630459
GO:0005783 Component Endoplasmic reticulum IDA 27889058
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609346 30078 ENSG00000115255
Protein
UniProt ID Q96HR9
Protein name Receptor expression-enhancing protein 6 (Polyposis locus protein 1-like 1)
Protein 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 ma
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03134 TB2_DP1_HVA22 66 143 TB2/DP1, HVA22 family Family
Tissue specificity 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 p
Sequence
MDGLRQRVEHFLEQRNLVTEVLGALEAKTGVEKRYLAAGAVTLLSLYLLFGYGASLLCNL
IGFVYPAYASIKAIESPSKDDDTVWLTYWVVYALFGLAEFFSDLLLSWFPFYYVGKCAFL
LFCMAPRPWNGALMLYQRVVRPL
FLRHHGAVDRIMNDLSGRALDAAAGITRNVLQVLARS
RAGITPVAVAGPSTPLEADLKPSQTPQPKDK
Sequence length 211
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Olfactory Signaling Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Hearing loss Conductive hearing loss, Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Retinitis Pigmentosa retinitis pigmentosa GenCC
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 35875026
Colitis Ulcerative Associate 19924442
Colorectal Neoplasms Associate 19924442
Crohn Disease Associate 19924442
Glioma Associate 36552760
Inflammatory Bowel Diseases Associate 19924442
Neoplasms Inhibit 19924442
Peutz Jeghers Syndrome Associate 19924442
Retinitis Pigmentosa Associate 31538292, 33917198