LIMS2 gene

LIM zinc finger domain containing 2

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

From NCBI Gene:

This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

From UniProt:

Adapter protein in a cytoplasmic complex linking beta-integrins to the actin cytoskeleton, bridges the complex to cell surface receptor tyrosine kinases and growth factor receptors. Plays a role in modulating cell spreading and migration.

From NCBI Gene:

  • Muscular dystrophy, limb-girdle, type 2W

From UniProt:

Limb-girdle muscular dystrophy 2W (LGMD2W): A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2W is characterized by childhood-onset of weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy. [MIM:616827]

Cytogenetic Location: 2q14.3, which is the long (q) arm of chromosome 2 at position 14.3

Molecular Location: base pairs 127,638,421 to 127,681,786 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q14.3, which is the long (q) arm of chromosome 2 at position 14.3
  • LGMD2W
  • PINCH-2
  • PINCH2