GEMIN5 Chromosome 5
Gem nuclear organelle associated protein 5
Upload your DNA to see your personal genotypes for variants in GEMIN5.
What This Gene Does
This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Gene Info
Gene Group
"WD repeat domain containing|Gemins"
Locus Type
gene with protein product
Location
5q33.2
Ensembl
ENSG00000082516
Associated Conditions (4)
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Inborn genetic diseases
GEMIN5-related disorder
GEMIN5-related neurodevelopmental disorder
Key Variants
RS1016364893
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Health Risk
RS142530738
Conflicting classifications of pathogenicity
Health Risk
RS1561716242
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61749643
Conflicting classifications of pathogenicity
Health Risk
RS868028669
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Health Risk
RS1348407784
Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Health Risk
RS1763176914
Likely pathogenic
GEMIN5-related disorder, GEMIN5-related disorder
Health Risk
RS1763488906
Likely pathogenic
GEMIN5-related disorder, GEMIN5-related disorder
Health Risk
RS1764094470
Likely pathogenic
Health Risk
RS200680023
Likely pathogenic
GEMIN5-related disorder, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, GEMIN5-related disorder
Health Risk
RS2481034065
Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Health Risk
RS2481048975
Likely pathogenic
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1016364893 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS142530738 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1561716242 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS61749643 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS868028669 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS1348407784 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS1763176914 | Health Risk | Likely pathogenic | GEMIN5-related disorder, GEMIN5-related disorder |
| RS1763488906 | Health Risk | Likely pathogenic | GEMIN5-related disorder, GEMIN5-related disorder |
| RS1764094470 | Health Risk | Likely pathogenic | — |
| RS200680023 | Health Risk | Likely pathogenic | GEMIN5-related disorder, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, GEMIN5-related disorder |
| RS2481034065 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS2481048975 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS760029026 | Health Risk | Likely pathogenic | GEMIN5-related neurodevelopmental disorder, Inborn genetic diseases, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS762138120 | Health Risk | Likely pathogenic | GEMIN5-related disorder, GEMIN5-related disorder |
| RS1458106178 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1763459819 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS1764065046 | Health Risk | Pathogenic | — |
| RS2113452099 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS2113459584 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS2113468939 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS2113491837 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS2113520828 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
| RS2481034140 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2481122799 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS371174241 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |