MAPRE2 gene

microtubule associated protein RP/EB family member 2

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

From NCBI Gene:

The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

From UniProt:

May be involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. May play a role in cell migration.

From NCBI Gene:

  • Skin creases, congenital symmetric circumferential, 2

From UniProt:

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. [MIM:616734]

Cytogenetic Location: 18q12.1-q12.2, which is the long (q) arm of chromosome 18 between positions 12.1 and 12.2

Molecular Location: base pairs 34,976,928 to 35,143,470 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q12.1-q12.2, which is the long (q) arm of chromosome 18 between positions 12.1 and 12.2
  • CSCSC2
  • EB1
  • EB2
  • RP1