AlphaFold predicted structure
SH3PXD2B · A1X283
Mean pLDDT
55.9/ 100
Low
911 residues
Confidence breakdown
- Very high(≥ 90)8%
- Confident(70–90)27%
- Low(50–70)7%
- Very low(< 50)58%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
SH3PXD2B
Chr 5q35.1SH3 and PX domains 2B
- Aliases:
- FLJ20831
- MANE:
- ENST00000311601.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
BIALLELIC, autosomal or pseudoautosomalRare genetic inflammatory skin disorders
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalRare syndromic craniosynostosis or isolated multisuture synostosis
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Frank-Ter Haar syndrome
0.78Dermato-cardio-skeletal syndrome, Borrone type
0.76Abnormality of the skeletal system
0.42androgenetic alopecia
0.36hereditary disease
0.34alcohol drinking
0.31Hypocalcemia
0.31poisoning
0.31response to xenobiotic stimulus
0.31skin disorder
0.29
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
SH3 and PX domain-containing protein 2B
Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity)
Diseases associated with SH3PXD2B
Curated MONDO disease pages that list SH3PXD2B among their top associated genes.