GOSR2 Chromosome 17
Golgi SNAP receptor complex member 2
Upload your DNA to see your personal genotypes for variants in GOSR2.
What This Gene Does
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"SNAREs|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17q21.32
Ensembl
ENSG00000108433
Associated Conditions (10)
Progressive myoclonic epilepsy
Inborn genetic diseases
Progressive myoclonic epilepsy type 6
GOSR2-related disorder
Muscular dystrophy
congenital
with or without seizures
Hearing loss
autosomal recessive
Colon adenocarcinoma
Key Variants
RS137975476
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
Health Risk
RS138510884
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy
Health Risk
RS182039780
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
Health Risk
RS199930484
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy
Health Risk
RS200210055
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6, GOSR2-related disorder
Health Risk
RS201423456
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy
Health Risk
RS376231923
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy
Health Risk
RS573306680
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy
Health Risk
RS746177544
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 6, Muscular dystrophy, congenital
Health Risk
RS747791818
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6
Health Risk
RS749270151
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy
Health Risk
RS750298260
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137975476 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS138510884 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy |
| RS182039780 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS199930484 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy |
| RS200210055 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6, GOSR2-related disorder |
| RS201423456 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy |
| RS376231923 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy |
| RS573306680 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy |
| RS746177544 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 6, Muscular dystrophy, congenital |
| RS747791818 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6 |
| RS749270151 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy |
| RS750298260 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS755211944 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy type 6, Inborn genetic diseases |
| RS770760366 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS771228855 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy |
| RS777442803 | Health Risk | Conflicting classifications of pathogenicity | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS1186314496 | Health Risk | Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS1187190721 | Health Risk | Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS1568177307 | Health Risk | Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS879328855 | Health Risk | Likely pathogenic | Progressive myoclonic epilepsy, Inborn genetic diseases, Hearing loss |
| RS886039603 | Health Risk | Likely pathogenic | — |
| RS1160364840 | Health Risk | Pathogenic | Inborn genetic diseases, Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS1176366316 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS1330994397 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS1466441723 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Muscular dystrophy, congenital |
| RS201616211 | Health Risk | Pathogenic | Progressive myoclonic epilepsy type 6, Muscular dystrophy, congenital |
| RS2087484070 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2146691974 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2146892080 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS2146911959 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS387906881 | Health Risk | Pathogenic | Progressive myoclonic epilepsy type 6, Muscular dystrophy, Progressive myoclonic epilepsy |
| RS751712181 | Health Risk | Pathogenic | Muscular dystrophy, congenital, with or without seizures |
| RS764802895 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS772523876 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS776869841 | Health Risk | Pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS863223401 | Health Risk | Pathogenic | Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy type 6 |
| RS1380954046 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS141554661 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy type 6, Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS746855352 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Muscular dystrophy, Inborn genetic diseases |