MKRN3 Chromosome 15
Makorin ring finger protein 3
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What This Gene Does
The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|Zinc fingers CCCH-type"
Locus Type
gene with protein product
Location
15q11.2
Ensembl
ENSG00000179455
Associated Conditions (5)
MKRN3-related disorder
Inborn genetic diseases
Precocious puberty
central
2
Key Variants
RS144864886
Conflicting classifications of pathogenicity
Health Risk
RS184950120
Conflicting classifications of pathogenicity
Health Risk
RS191451278
Conflicting classifications of pathogenicity
MKRN3-related disorder, Inborn genetic diseases, MKRN3-related disorder
Health Risk
RS764226133
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772391409
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1555370456
Likely pathogenic
Health Risk
RS1566764505
Likely pathogenic
Precocious puberty, central, 2
Health Risk
RS1595298328
Likely pathogenic
Health Risk
RS766690218
Likely pathogenic
MKRN3-related disorder, MKRN3-related disorder
Health Risk
RS1264639964
Pathogenic
Precocious puberty, central, 2
Health Risk
RS763195944
Pathogenic
Precocious puberty, central, 2
Health Risk
RS879255238
Pathogenic
Precocious puberty, central, 2
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144864886 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS184950120 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS191451278 | Health Risk | Conflicting classifications of pathogenicity | MKRN3-related disorder, Inborn genetic diseases, MKRN3-related disorder |
| RS764226133 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772391409 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1555370456 | Health Risk | Likely pathogenic | — |
| RS1566764505 | Health Risk | Likely pathogenic | Precocious puberty, central, 2 |
| RS1595298328 | Health Risk | Likely pathogenic | — |
| RS766690218 | Health Risk | Likely pathogenic | MKRN3-related disorder, MKRN3-related disorder |
| RS1264639964 | Health Risk | Pathogenic | Precocious puberty, central, 2 |
| RS763195944 | Health Risk | Pathogenic | Precocious puberty, central, 2 |
| RS879255238 | Health Risk | Pathogenic | Precocious puberty, central, 2 |
| RS879255239 | Health Risk | Pathogenic | Precocious puberty, central, 2 |
| RS879255240 | Health Risk | Pathogenic | Precocious puberty, central, 2 |