REEP2 Chromosome 5
Receptor accessory protein 2
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What This Gene Does
This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
Receptor accessory proteins
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000132563
Associated Conditions (4)
Hereditary spastic paraplegia 72
Inborn genetic diseases
Spastic paraplegia 72b
autosomal recessive
Key Variants
RS111927109
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
Health Risk
RS752209038
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 72, Inborn genetic diseases, Hereditary spastic paraplegia 72
Health Risk
RS1580980701
Likely pathogenic
Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
Health Risk
RS1763893777
Likely pathogenic
Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
Health Risk
RS752698231
Likely pathogenic
Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
Health Risk
RS1763822813
Pathogenic
Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
Health Risk
RS483352923
Pathogenic
Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72
Health Risk
RS483352924
Pathogenic
Spastic paraplegia 72b, autosomal recessive, Spastic paraplegia 72b
Health Risk
RS483352925
Pathogenic
Spastic paraplegia 72b, autosomal recessive, Spastic paraplegia 72b
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111927109 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72 |
| RS752209038 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 72, Inborn genetic diseases, Hereditary spastic paraplegia 72 |
| RS1580980701 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72 |
| RS1763893777 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72 |
| RS752698231 | Health Risk | Likely pathogenic | Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72 |
| RS1763822813 | Health Risk | Pathogenic | Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72 |
| RS483352923 | Health Risk | Pathogenic | Hereditary spastic paraplegia 72, Hereditary spastic paraplegia 72 |
| RS483352924 | Health Risk | Pathogenic | Spastic paraplegia 72b, autosomal recessive, Spastic paraplegia 72b |
| RS483352925 | Health Risk | Pathogenic | Spastic paraplegia 72b, autosomal recessive, Spastic paraplegia 72b |