Identity
HGNC
LOCATION
2p11.2
LOCUSID
ALIAS
C2orf23,HMN5B,SPG31,Yip2a
FUSION GENES
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: 65055
MIM: 609139
HGNC: 25786
Ensembl: ENSG00000068615
Variants:
dbSNP: 65055
ClinVar: 65055
TCGA: ENSG00000068615
COSMIC: REEP1
RNA/Proteins
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 |
|---|---|---|---|
| 30637453 | 2019 | Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants. | 6 |
| 31055810 | 2019 | [Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31]. | 0 |
| 30637453 | 2019 | Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants. | 6 |
| 31055810 | 2019 | [Deletional variant of REEP1 gene in a pedigree affected with spastic paraplegia type 31]. | 0 |
| 29107646 | 2018 | Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability. | 2 |
| 29124833 | 2018 | A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif. | 7 |
| 29908077 | 2018 | Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. | 18 |
| 29107646 | 2018 | Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability. | 2 |
| 29124833 | 2018 | A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif. | 7 |
| 29908077 | 2018 | Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis. | 18 |
| 24986827 | 2015 | A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1. | 5 |
| 26201691 | 2015 | Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. | 57 |
| 26671083 | 2015 | Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. | 13 |
| 24986827 | 2015 | A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1. | 5 |
| 26201691 | 2015 | Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts. | 57 |
Citation
Dessen P
REEP1 (receptor accessory protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72568/reep1-(receptor-accessory-protein-1)
