AlphaFold predicted structure
MARK2 · Q7KZI7

Mean pLDDT
67.1/ 100
Low
788 residues
Confidence breakdown
- Very high(≥ 90)39%
- Confident(70–90)14%
- Low(50–70)2%
- Very low(< 50)45%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
microtubule affinity regulating kinase 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedintellectual developmental disorder, autosomal dominant 76
autism spectrum disorder
neurodegenerative disease
pancreatic adenocarcinoma
neurodevelopmental disorder
Intellectual disability
sialolithiasis
attention deficit-hyperactivity disorder
Anxiety
autism
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Serine/threonine-protein kinase MARK2
Serine/threonine-protein kinase (PubMed:23666762). Involved in cell polarity and microtubule dynamics regulation. Phosphorylates CRTC2/TORC2, DCX, HDAC7, KIF13B, MAP2, MAP4 and RAB11FIP2. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:23666762). Plays a key role in cell polarity by phosphorylating the microtubule-associated proteins MAP2, MAP4 and MAPT/TAU at KXGS motifs, causing detachment from microtubules, and their disassembly. Regulates epithelial cell polarity by phosphorylating RAB11FIP2. Involved in the regulation of neuronal migration through its dual activities in regulating cellular polarity and microtubule dynamics, possibly by phosphorylating and regulating DCX. Regulates axogenesis by phosphorylating KIF13B, promoting interaction between KIF13B and 14-3-3 and inhibiting microtubule-dependent accumulation of KIF13B. Also required for neurite outgrowth and establishment of neuronal polarity. Regulates localization and activity of some histone deacetylases by mediating phosphorylation of HDAC7, promoting subsequent interaction between HDAC7 and 14-3-3 and export from the nucleus. Also acts as a positive regulator of the Wnt signaling pathway, probably by mediating phosphorylation of disheveled proteins (DVL1, DVL2 and/or DVL3). Modulates the developmental decision to build a columnar versus a hepatic epithelial cell apparently by promoting a switch from a direct to a transcytotic mode of apical protein delivery. Essential for the asymmetric development of membrane domains of polarized epithelial cells. Phosphorylates UBAC2 at 'Ser-223' during ER stress or starvation-induced autophagy, promoting UBAC2 dimerization and interaction with GABARAP to mediate ER-phagy (PubMed:39284914)
Curated MONDO disease pages that list MARK2 among their top associated genes.
MARK2 · Q7KZI7

Mean pLDDT
67.1/ 100
Low
788 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0