MASTL gene

microtubule associated serine/threonine kinase like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]

From UniProt:

Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance. Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit PP2A but acts by mediating phosphorylation and subsequent activation of ARPP19 and ENSA at 'Ser-62' and 'Ser-67', respectively. ARPP19 and ENSA are phosphatase inhibitors that specifically inhibit the PPP2R2D (PR55-delta) subunit of PP2A. Inactivation of PP2A during M phase is essential to keep cyclin-B1-CDK1 activity high. Following DNA damage, it is also involved in checkpoint recovery by being inhibited. Phosphorylates histone protein in vitro; however such activity is unsure in vivo. May be involved in megakaryocyte differentiation.

From NCBI Gene:

  • Thrombocytopenia 2

From UniProt:

Thrombocytopenia 2 (THC2): Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. [MIM:188000]

Cytogenetic Location: 10p12.1, which is the short (p) arm of chromosome 10 at position 12.1

Molecular Location: base pairs 27,154,468 to 27,187,953 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10p12.1, which is the short (p) arm of chromosome 10 at position 12.1
  • GREATWALL
  • GW
  • GWL
  • MAST-L
  • THC2