Gene: SUN2

Alternate names for this Gene: UNC84B

Gene Summary: SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a 'bridge' across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010].

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.1

Description of this Gene: Sad1 and UNC84 domain containing 2

Type of Gene: protein-coding

Gene: GTPBP1

Alternate names for this Gene: GP-1|GP1|HSPC018

Gene Summary: This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.1

Description of this Gene: GTP binding protein 1

Type of Gene: protein-coding

rs138705 in SUN2;GTPBP1 gene and Amyotrophic Lateral Sclerosis PMID 23587638 2013 Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.