SNX10 Chromosome 7
Sorting nexin 10
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What This Gene Does
This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
Sorting nexins
Locus Type
gene with protein product
Location
7p15.2
Ensembl
ENSG00000086300
Associated Conditions (3)
Inborn genetic diseases
Autosomal recessive osteopetrosis 8
Gastric cancer
Key Variants
RS149177634
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2536153141
Likely pathogenic
Health Risk
RS2536153865
Likely pathogenic
Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8
Health Risk
RS771038257
Likely pathogenic
Health Risk
RS775298474
Likely pathogenic
Health Risk
RS776348160
Likely pathogenic
Gastric cancer, Gastric cancer
Health Risk
RS1788391157
Pathogenic
Health Risk
RS2128024652
Pathogenic
Health Risk
RS2536141413
Pathogenic
Health Risk
RS377321694
Pathogenic
Health Risk
RS398123011
Pathogenic
Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8
Health Risk
RS587777490
Pathogenic
Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149177634 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2536153141 | Health Risk | Likely pathogenic | — |
| RS2536153865 | Health Risk | Likely pathogenic | Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8 |
| RS771038257 | Health Risk | Likely pathogenic | — |
| RS775298474 | Health Risk | Likely pathogenic | — |
| RS776348160 | Health Risk | Likely pathogenic | Gastric cancer, Gastric cancer |
| RS1788391157 | Health Risk | Pathogenic | — |
| RS2128024652 | Health Risk | Pathogenic | — |
| RS2536141413 | Health Risk | Pathogenic | — |
| RS377321694 | Health Risk | Pathogenic | — |
| RS398123011 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8 |
| RS587777490 | Health Risk | Pathogenic | Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8 |
| RS753014293 | Health Risk | Pathogenic | — |
| RS968119159 | Health Risk | Pathogenic | — |
| RS1353879401 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive osteopetrosis 8, Autosomal recessive osteopetrosis 8 |