NEK2 Chromosome 1
NIMA related kinase 2
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What This Gene Does
This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in late G2 phase. Alternatively spliced transcript variants encoding different isoforms with distinct C-termini have been noted for this gene. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|NIMA related kinase family"
Locus Type
gene with protein product
Location
1q32.3
Ensembl
ENSG00000117650
Associated Conditions (2)
Retinal dystrophy
Retinitis pigmentosa 67
Key Variants
RS143249148
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS151049149
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS773878112
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1050943261
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1655077098
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2464395714
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS763584429
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS398122961
Pathogenic
Retinitis pigmentosa 67, Retinitis pigmentosa 67
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143249148 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS151049149 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS773878112 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS1050943261 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1655077098 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2464395714 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS763584429 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS398122961 | Health Risk | Pathogenic | Retinitis pigmentosa 67, Retinitis pigmentosa 67 |