MSN Chromosome X
Moesin
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What This Gene Does
Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
FERM domain containing
Locus Type
gene with protein product
Location
Xq12
Ensembl
ENSG00000147065
Associated Conditions (3)
Inborn genetic diseases
Combined immunodeficiency due to moesin deficiency
Ovarian serous cystadenocarcinoma
Key Variants
RS144972292
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145356792
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS748200741
Conflicting classifications of pathogenicity
Health Risk
RS750077484
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757131925
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS759176072
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS761864712
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767552861
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS772365732
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519075
Likely pathogenic
Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency
Health Risk
RS1602878106
Likely pathogenic
Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency
Health Risk
RS2522976500
Likely pathogenic
Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144972292 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145356792 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS748200741 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750077484 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757131925 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759176072 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761864712 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767552861 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772365732 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057519075 | Health Risk | Likely pathogenic | Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency |
| RS1602878106 | Health Risk | Likely pathogenic | Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency |
| RS2522976500 | Health Risk | Likely pathogenic | Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma |
| RS774679103 | Health Risk | Likely pathogenic | — |
| RS1057519074 | Health Risk | Pathogenic | Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency |
| RS2147518591 | Health Risk | Pathogenic | Combined immunodeficiency due to moesin deficiency, Combined immunodeficiency due to moesin deficiency |
| RS2147518992 | Health Risk | Pathogenic | — |
| RS2522976660 | Health Risk | Pathogenic | — |
| RS2523004547 | Health Risk | Pathogenic | — |
| RS2523006102 | Health Risk | Pathogenic | — |
| RS2523006110 | Health Risk | Pathogenic | — |
| RS2523018241 | Health Risk | Pathogenic | — |
| RS2523021283 | Health Risk | Pathogenic | — |