CNKSR2 Chromosome X
Connector enhancer of kinase suppressor of Ras 2
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What This Gene Does
This gene encodes a multidomain protein that functions as a scaffold protein to mediate the mitogen-activated protein kinase pathways downstream from Ras. This gene product is induced by vitamin D and inhibits apoptosis in certain cancer cells. It may also play a role in ternary complex assembly of synaptic proteins at the postsynaptic membrane and coupling of signal transduction to membrane/cytoskeletal remodeling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Sterile alpha motif domain containing|PDZ domain containing"
Locus Type
gene with protein product
Location
Xp22.12
Ensembl
ENSG00000149970
Associated Conditions (8)
Uterine corpus endometrial carcinoma
Intellectual disability
Inborn genetic diseases
X-linked
syndromic
Houge type
X-linked recessive seizure and neurodevelopmental deficit
Neurodevelopmental disorder
Key Variants
RS113091231
Conflicting classifications of pathogenicity
Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
Health Risk
RS144451192
Conflicting classifications of pathogenicity
Intellectual disability, Inborn genetic diseases, Intellectual disability
Health Risk
RS200533315
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2147346551
Conflicting classifications of pathogenicity
Intellectual disability, X-linked, syndromic
Health Risk
RS757776373
Conflicting classifications of pathogenicity
Health Risk
RS760890681
Conflicting classifications of pathogenicity
Health Risk
RS1555941759
Likely pathogenic
X-linked recessive seizure and neurodevelopmental deficit, X-linked recessive seizure and neurodevelopmental deficit
Health Risk
RS1569161831
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS1569272271
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS1601952572
Likely pathogenic
Health Risk
RS2092414327
Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
RS2147191275
Likely pathogenic
Intellectual disability, X-linked, syndromic
Health Risk
All Variants (40)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113091231 | Health Risk | Conflicting classifications of pathogenicity | Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma |
| RS144451192 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Inborn genetic diseases, Intellectual disability |
| RS200533315 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2147346551 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, X-linked, syndromic |
| RS757776373 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760890681 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1555941759 | Health Risk | Likely pathogenic | X-linked recessive seizure and neurodevelopmental deficit, X-linked recessive seizure and neurodevelopmental deficit |
| RS1569161831 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS1569272271 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1601952572 | Health Risk | Likely pathogenic | — |
| RS2092414327 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS2147191275 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS2519083192 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS2519299753 | Health Risk | Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS1064793729 | Health Risk | Pathogenic | — |
| RS1064794022 | Health Risk | Pathogenic | — |
| RS1569261319 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS1602013845 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS2090650922 | Health Risk | Pathogenic | — |
| RS2091890720 | Health Risk | Pathogenic | — |
| RS2092480152 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2092480172 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS2147096420 | Health Risk | Pathogenic | — |
| RS2147123782 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS2147123908 | Health Risk | Pathogenic | — |
| RS2147143428 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS2147249014 | Health Risk | Pathogenic | — |
| RS2147250007 | Health Risk | Pathogenic | — |
| RS2147258522 | Health Risk | Pathogenic | — |
| RS2147268813 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS2147283343 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS2147283407 | Health Risk | Pathogenic | — |
| RS2519317743 | Health Risk | Pathogenic | — |
| RS2519358649 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS606231282 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS886041712 | Health Risk | Pathogenic | — |
| RS886041798 | Health Risk | Pathogenic | — |
| RS904072058 | Health Risk | Pathogenic | Intellectual disability, X-linked, syndromic |
| RS2519101342 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked, syndromic |
| RS2519358174 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, X-linked, syndromic |