Gene

SH3PXD2B

Species
Homo sapiens
Symbol
SH3PXD2B
Name
SH3 and PX domains 2B
Synonyms
  • adapter protein HOFI
  • adaptor protein HOFI
Biotype
protein coding gene
Automated Description
Predicted to enable SH2 domain binding activity; phosphatidylinositol phosphate binding activity; and superoxide-generating NADPH oxidase activator activity. Involved in several processes, including bone development; extracellular matrix disassembly; and superoxide metabolic process. Predicted to be located in podosome. Predicted to be active in cytoplasm. Implicated in Frank-Ter Haar syndrome.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR15706
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
172.34M172.36M172.38M172.40M172.42M172.44M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions