SH3PXD2B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SH3PXD2B |
| Official Name | SH3 and PX domains 2B [Source:HGNC Symbol;Acc:HGNC:29242] |
| Ensembl ID | ENSG00000174705 |
| Bio databases IDs | |
| Aliases | SH3 and PX domains 2B |
| Synonyms | FAD49, FTHS, G431001E03Rik, HOFI, KIAA1295, LOC285590, RGD1309926, SH3 and PX domains 2B, TKS4, TSK4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SH3PXD2B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- SH2-domain binding
- The Phox Homology domain, a phosphoinositide binding module
- protein binding
- phosphatidylinositol binding
- PX domain
- Src Homology 3 domain superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infertility condition
- Frank-Ter Haar syndrome
- multiple system atrophy
- kyphosis
- lung adenocarcinoma
- lung adenocarcinoma formation
- exophthalmos
- lung squamous cell carcinoma
- squamous cell lung cancer
- lipodystrophy
role in cell
- expression in
- differentiation
- migration
- morphology
- circularity
- disassembly
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- podosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SH3PXD2B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- eye development
- superoxide metabolic process
- skeletal system development
- extracellular matrix disassembly
- cell differentiation
- protein localization in membrane
- superoxide anion generation
- podosome assembly
- bone development
- adipose tissue development
Cellular Component
Where in the cell the gene product is active
- anchoring junction
- cytoplasm
- cell projection
- podosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- phosphatidylinositol-5-phosphate binding
- superoxide-generating NADPH oxidase activator activity
- phosphatidylinositol-3,5-bisphosphate binding
- phosphatidylinositol-3-phosphate binding
- SH2 domain binding