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:

Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue (MDRCMTT): An autosomal recessive muscular dystrophy characterized by childhood-onset of muscle weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy, and macroglossia with a small tip resulting in a triangular tongue. [MIM:616827]

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

Molecular Location: base pairs 127,638,381 to 127,681,786 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

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