SH3PXD2B Chromosome 5
SH3 and PX domains 2B
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What This Gene Does
This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Associated Conditions (9)
Frank-Ter Haar syndrome
Inborn genetic diseases
SH3PXD2B-related disorder
Malignant lymphoma
large B-cell
diffuse
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Colon adenocarcinoma
Key Variants
RS112436148
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
Health Risk
RS1201658186
Conflicting classifications of pathogenicity
Health Risk
RS138316493
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
Health Risk
RS140209484
Conflicting classifications of pathogenicity
Health Risk
RS140645910
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
Health Risk
RS141265263
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
Health Risk
RS141993560
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142552959
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
Health Risk
RS143060223
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
Health Risk
RS143272304
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, Inborn genetic diseases, Frank-Ter Haar syndrome
Health Risk
RS143850475
Conflicting classifications of pathogenicity
Health Risk
RS144228973
Conflicting classifications of pathogenicity
Frank-Ter Haar syndrome, SH3PXD2B-related disorder, Frank-Ter Haar syndrome
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765784096 | Health Risk | Likely pathogenic | — |
| RS774657169 | Health Risk | Likely pathogenic | — |
| RS367543284 | Health Risk | Pathogenic | Frank-Ter Haar syndrome, Frank-Ter Haar syndrome |
| RS61755907 | Health Risk | Pathogenic | — |
| RS753161047 | Health Risk | Pathogenic | SH3PXD2B-related disorder, SH3PXD2B-related disorder |
| RS775217258 | Health Risk | Pathogenic | Frank-Ter Haar syndrome, Frank-Ter Haar syndrome |
| RS794728005 | Health Risk | Pathogenic | Frank-Ter Haar syndrome, Frank-Ter Haar syndrome |
| RS794728006 | Health Risk | Pathogenic | Frank-Ter Haar syndrome, Frank-Ter Haar syndrome |
| RS886042037 | Health Risk | Pathogenic | — |