TIA1 Chromosome 2
TIA1 cytotoxic granule associated RNA binding protein
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What This Gene Does
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. [provided by RefSeq, May 2017]
Gene Info
Gene Group
RNA binding motif containing
Locus Type
gene with protein product
Location
2p13.3
Ensembl
ENSG00000116001
Associated Conditions (4)
Welander distal myopathy
TIA1-related disorder
Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA
Key Variants
RS116621885
Conflicting classifications of pathogenicity
Welander distal myopathy, TIA1-related disorder, Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia
Health Risk
RS200963371
Conflicting classifications of pathogenicity
Welander distal myopathy, Welander distal myopathy
Health Risk
RS201905164
Conflicting classifications of pathogenicity
Welander distal myopathy, Welander distal myopathy
Health Risk
RS757332023
Conflicting classifications of pathogenicity
AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA, Welander distal myopathy, AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA
Health Risk
RS767534980
Conflicting classifications of pathogenicity
Welander distal myopathy, Welander distal myopathy
Health Risk
RS769573516
Conflicting classifications of pathogenicity
Welander distal myopathy, Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, Welander distal myopathy
Health Risk
RS747068278
Pathogenic/Likely pathogenic
Welander distal myopathy, Welander distal myopathy
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS116621885 | Health Risk | Conflicting classifications of pathogenicity | Welander distal myopathy, TIA1-related disorder, Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia |
| RS200963371 | Health Risk | Conflicting classifications of pathogenicity | Welander distal myopathy, Welander distal myopathy |
| RS201905164 | Health Risk | Conflicting classifications of pathogenicity | Welander distal myopathy, Welander distal myopathy |
| RS757332023 | Health Risk | Conflicting classifications of pathogenicity | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA, Welander distal myopathy, AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA |
| RS767534980 | Health Risk | Conflicting classifications of pathogenicity | Welander distal myopathy, Welander distal myopathy |
| RS769573516 | Health Risk | Conflicting classifications of pathogenicity | Welander distal myopathy, Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, Welander distal myopathy |
| RS747068278 | Health Risk | Pathogenic/Likely pathogenic | Welander distal myopathy, Welander distal myopathy |