SH3PXD2B

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]

Description

SH3 and PX domains 2B

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli fibrillar center

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (172325000 - 172454525)

Ensembl ID

ENSG00000174705  (ver. 103.38)

Orthologs

Mouse Sh3pxd2b: ENSMUSG00000040711

UniProt

A1X283

neXtProt

NX_A1X283

Human splice variants
Mouse splice variants

Protein structure