SH3PXD2B gene

SH3 and PX domains 2B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Frank Ter Haar syndrome

From UniProt:

Frank-Ter Haar syndrome (FTHS): A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. [MIM:249420]

Cytogenetic Location: 5q35.1, which is the long (q) arm of chromosome 5 at position 35.1

Molecular Location: base pairs 172,325,181 to 172,454,523 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q35.1, which is the long (q) arm of chromosome 5 at position 35.1
  • FAD49
  • FTHS
  • HOFI
  • KIAA1295
  • TKS4
  • TSK4