PODXL Chromosome 7
Podocalyxin like
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What This Gene Does
This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008]
Associated Conditions (3)
PODXL-related disorder
Inborn genetic diseases
Autosomal recessive juvenile Parkinson disease 2
Key Variants
RS115466882
Conflicting classifications of pathogenicity
PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder
Health Risk
RS138243217
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140866787
Conflicting classifications of pathogenicity
Inborn genetic diseases, PODXL-related disorder, Inborn genetic diseases
Health Risk
RS143652476
Conflicting classifications of pathogenicity
PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder
Health Risk
RS147379975
Conflicting classifications of pathogenicity
PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder
Health Risk
RS199529657
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199939288
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201551993
Conflicting classifications of pathogenicity
PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder
Health Risk
RS201911803
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375173959
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377310580
Conflicting classifications of pathogenicity
Health Risk
RS762024541
Conflicting classifications of pathogenicity
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115466882 | Health Risk | Conflicting classifications of pathogenicity | PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder |
| RS138243217 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140866787 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PODXL-related disorder, Inborn genetic diseases |
| RS143652476 | Health Risk | Conflicting classifications of pathogenicity | PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder |
| RS147379975 | Health Risk | Conflicting classifications of pathogenicity | PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder |
| RS199529657 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199939288 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201551993 | Health Risk | Conflicting classifications of pathogenicity | PODXL-related disorder, Inborn genetic diseases, PODXL-related disorder |
| RS201911803 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375173959 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377310580 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762024541 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769831427 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774563497 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1554391082 | Health Risk | Likely pathogenic | Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS2116787553 | Health Risk | Pathogenic | — |
| RS2485278976 | Health Risk | Pathogenic | — |
| RS748107948 | Health Risk | Pathogenic | — |