Identity
HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
C19orf32,DP1L1,REEP6.1,REEP6.2,RP77,TB2L1,Yip2f
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 92840
MIM: 609346
HGNC: 30078
Ensembl: ENSG00000115255
Variants:
dbSNP: 92840
ClinVar: 92840
TCGA: ENSG00000115255
COSMIC: REEP6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000115255 | ENST00000233596 | Q96HR9 |
| ENSG00000115255 | ENST00000233596 | A0A1L5BXV2 |
| ENSG00000115255 | ENST00000395479 | Q96HR9 |
| ENSG00000115255 | ENST00000395484 | A8MXN1 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Signal Transduction | REACTOME | R-HSA-162582 |
| Signaling by GPCR | REACTOME | R-HSA-372790 |
| GPCR downstream signaling | REACTOME | R-HSA-388396 |
| Olfactory Signaling Pathway | REACTOME | R-HSA-381753 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33917198 | 2021 | Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population. | 7 |
| 33917198 | 2021 | Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population. | 7 |
| 31538292 | 2020 | Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa. | 6 |
| 31538292 | 2020 | Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa. | 6 |
| 27889058 | 2016 | Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. | 71 |
| 27966653 | 2016 | The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression. | 14 |
| 27889058 | 2016 | Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. | 71 |
| 27966653 | 2016 | The accessory proteins REEP5 and REEP6 refine CXCR1-mediated cellular responses and lung cancer progression. | 14 |
| 19924442 | 2010 | Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease. | 3 |
| 19924442 | 2010 | Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease. | 3 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19924442 | 2010 | Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease. | 3 |
| 19924442 | 2010 | Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in polyposis 1-like 1) in colon cancer and inflammatory bowel disease. | 3 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
Citation
Dessen P
REEP6 (receptor accessory protein 6)
Atlas Genet Cytogenet Oncol Haematol. 2010-05-01
Online version: http://atlasgeneticsoncology.org/gene/51450/reep6
