Gene: C2orf42

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: chromosome 2 open reading frame 42

Type of Gene: protein-coding

Gene: TIA1

Alternate names for this Gene: TIA-1|WDM

Gene Summary: The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.3

Description of this Gene: TIA1 cytotoxic granule associated RNA binding protein

Type of Gene: protein-coding

rs2305144 in C2orf42;TIA1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2706770 in C2orf42;TIA1 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs2706770 in C2orf42;TIA1 gene and Serum total cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs747068278 in C2orf42;TIA1 gene and Welander Distal Myopathy PMID 28817800 2017 TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics.

PMID 27282841 2016 Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

PMID 10482271 1999 Genetic linkage of Welander distal myopathy to chromosome 2p13.

PMID 23401021 2013 Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1.

PMID 23348830 2013 Within the conserved haplotype, we identified a single heterozygous mutation c.1150G>A (p.E384K) in T-cell intracellular antigen-1 (TIA1) in all WDM patients investigated (n = 43).