MAPRE2 Chromosome 18
Microtubule associated protein RP/EB family member 2
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What This Gene Does
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]
Gene Info
Gene Group
Microtubule associated protein RP/EB family
Locus Type
gene with protein product
Location
18q12.1-q12.2
Ensembl
ENSG00000166974
Associated Conditions (4)
Skin creases
congenital symmetric circumferential
2
Developmental disorder
Key Variants
RS2523915648
Conflicting classifications of pathogenicity
Skin creases, congenital symmetric circumferential, 2
Health Risk
RS534772399
Conflicting classifications of pathogenicity
Skin creases, congenital symmetric circumferential, 2
Health Risk
RS1568991852
Likely pathogenic
Skin creases, congenital symmetric circumferential, 2
Health Risk
RS1603400699
Likely pathogenic
Skin creases, congenital symmetric circumferential, 2
Health Risk
RS2523915654
Likely pathogenic
Skin creases, congenital symmetric circumferential, 2
Health Risk
RS864309717
Pathogenic
Skin creases, congenital symmetric circumferential, 2
Health Risk
RS864309718
Pathogenic
Skin creases, congenital symmetric circumferential, 2
Health Risk
RS864309719
Pathogenic
Skin creases, congenital symmetric circumferential, 2
Health Risk
RS864309720
Pathogenic/Likely pathogenic
Skin creases, congenital symmetric circumferential, 2
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2523915648 | Health Risk | Conflicting classifications of pathogenicity | Skin creases, congenital symmetric circumferential, 2 |
| RS534772399 | Health Risk | Conflicting classifications of pathogenicity | Skin creases, congenital symmetric circumferential, 2 |
| RS1568991852 | Health Risk | Likely pathogenic | Skin creases, congenital symmetric circumferential, 2 |
| RS1603400699 | Health Risk | Likely pathogenic | Skin creases, congenital symmetric circumferential, 2 |
| RS2523915654 | Health Risk | Likely pathogenic | Skin creases, congenital symmetric circumferential, 2 |
| RS864309717 | Health Risk | Pathogenic | Skin creases, congenital symmetric circumferential, 2 |
| RS864309718 | Health Risk | Pathogenic | Skin creases, congenital symmetric circumferential, 2 |
| RS864309719 | Health Risk | Pathogenic | Skin creases, congenital symmetric circumferential, 2 |
| RS864309720 | Health Risk | Pathogenic/Likely pathogenic | Skin creases, congenital symmetric circumferential, 2 |