MARK2 Chromosome 11
Microtubule affinity regulating kinase 2
Upload your DNA to see your personal genotypes for variants in MARK2.
What This Gene Does
This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
Microtubule affinity regulating kinases
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000072518
Associated Conditions (6)
Autism spectrum disorder
Intellectual disability
Intellectual developmental disorder
autosomal dominant 76
MARK2-associated neurodevelopmental disorder
Malignant tumor of urinary bladder
Key Variants
RS1252482376
Likely pathogenic
Autism spectrum disorder, Intellectual disability, Autism spectrum disorder
Health Risk
RS1369701108
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS2539306245
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS2539306304
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS2539315343
Likely pathogenic
Autism spectrum disorder, Intellectual developmental disorder, autosomal dominant 76
Health Risk
RS2539330444
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS2539332826
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS2539336006
Likely pathogenic
Autism spectrum disorder, MARK2-associated neurodevelopmental disorder, Autism spectrum disorder
Health Risk
RS2539350502
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS2539350612
Likely pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1940823816
Pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1941197590
Pathogenic
Autism spectrum disorder, Autism spectrum disorder
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1252482376 | Health Risk | Likely pathogenic | Autism spectrum disorder, Intellectual disability, Autism spectrum disorder |
| RS1369701108 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539306245 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539306304 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539315343 | Health Risk | Likely pathogenic | Autism spectrum disorder, Intellectual developmental disorder, autosomal dominant 76 |
| RS2539330444 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539332826 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539336006 | Health Risk | Likely pathogenic | Autism spectrum disorder, MARK2-associated neurodevelopmental disorder, Autism spectrum disorder |
| RS2539350502 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539350612 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1940823816 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS1941197590 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539306378 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539313698 | Health Risk | Pathogenic | Autism spectrum disorder, Intellectual developmental disorder, autosomal dominant 76 |
| RS2539319606 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539321295 | Health Risk | Pathogenic | Autism spectrum disorder, Intellectual developmental disorder, autosomal dominant 76 |
| RS2539322573 | Health Risk | Pathogenic | Autism spectrum disorder, Malignant tumor of urinary bladder, Autism spectrum disorder |
| RS2539326870 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539335503 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539350226 | Health Risk | Pathogenic | Autism spectrum disorder, Intellectual developmental disorder, autosomal dominant 76 |
| RS2539350467 | Health Risk | Pathogenic | Autism spectrum disorder, Intellectual developmental disorder, autosomal dominant 76 |
| RS868032104 | Health Risk | Pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2539306253 | Health Risk | Pathogenic/Likely pathogenic | Autism spectrum disorder, Intellectual developmental disorder, autosomal dominant 76 |