GEMIN4 Chromosome 17
Gem nuclear organelle associated protein 4
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What This Gene Does
The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Minor histocompatibility antigens|Gemins"
Locus Type
gene with protein product
Location
17p13.3
Ensembl
ENSG00000179409
Associated Conditions (8)
GEMIN4-related disorder
Neurodevelopmental disorder with microcephaly
cataracts
and renal abnormalities
Microcephaly
Severe dystonia
Developmental cataract
Global developmental delay
Key Variants
RS143168627
Conflicting classifications of pathogenicity
GEMIN4-related disorder, GEMIN4-related disorder
Health Risk
RS180894698
Conflicting classifications of pathogenicity
GEMIN4-related disorder, GEMIN4-related disorder
Health Risk
RS188821606
Conflicting classifications of pathogenicity
Health Risk
RS199897496
Conflicting classifications of pathogenicity
Health Risk
RS200379895
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Health Risk
RS201544259
Conflicting classifications of pathogenicity
Health Risk
RS878940028
Pathogenic
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Health Risk
RS730882219
Pathogenic/Likely pathogenic
Microcephaly, Severe dystonia, Developmental cataract
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143168627 | Health Risk | Conflicting classifications of pathogenicity | GEMIN4-related disorder, GEMIN4-related disorder |
| RS180894698 | Health Risk | Conflicting classifications of pathogenicity | GEMIN4-related disorder, GEMIN4-related disorder |
| RS188821606 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199897496 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200379895 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities |
| RS201544259 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS878940028 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities |
| RS730882219 | Health Risk | Pathogenic/Likely pathogenic | Microcephaly, Severe dystonia, Developmental cataract |