MAPRE2
Domain
Composed of two functionally independent domains. The N-terminal domain forms a hydrophobic cleft involved in microtubule binding and the C-terminal is involved in the formation of mutually exclusive complexes with APC and DCTN1.
Function
May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration (By similarity).
Involvement in disease
Skin creases, congenital symmetric circumferential, 2
CSCSC2
An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the MAPRE family.
Tissue Specificity
Expressed in different tumor cell lines. Up-regulated in activated B- and T-lymphocytes.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Associated with the microtubule network. Accumulates at the plus end of microtubules.
Alternative names
RP1, MAPRE2, Microtubule-associated protein RP/EB family member 2, APC-binding protein EB2, End-binding protein 2, EB2