Gene
TIA1
TIA1 cytotoxic granule associated RNA binding protein
- HGNC 11802↗(opens in a new tab)
- Ensembl gene ENSG00000116001↗(opens in a new tab)
- NCBI Gene 7072↗(opens in a new tab)
Summary
- Cytogenetic location
- 2p13.3
- Coordinates
- Chromosome 2: 70,209,444–70,248,628 (GRCh38)
- Exons
- 13 exons across 39.2 kb
- Protein
- 386 amino acids
- Also known as
- TIA-1
- MANE Select transcript
- ENST00000433529.7NM_022173.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Distal Myopathies
- Distal Myopathy, Welander Type
Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.
- 1 GenCC submitter rates it definitive or strong
- Distal myopathy
A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.
- 1 GenCC submitter rates it definitive or strong
How TIA1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.6 kb of the gene's 39.2 kb; 1,161 of those bases code for the protein.
How a genome test reads TIA1
1
position in TIA1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 39.2 kb of TIA1, introns included, not only the 4.6 kb of exons.
Genes linked to the same conditions
- ADSS1adenylosuccinate synthase 1Shares 1 condition
- ANO5anoctamin 5Shares 1 condition
- CRYABcrystallin alpha BShares 1 condition
- DNAJB4DnaJ heat shock protein family (Hsp40) member B4Shares 1 condition
- DYSFdysferlinShares 1 condition
- FLNCfilamin CShares 1 condition
- GIPC1GIPC PDZ domain containing family member 1Shares 1 condition
- GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseShares 1 condition
- LDB3LIM domain binding 3Shares 1 condition
- LRP12LDL receptor related protein 12Shares 1 condition
- MATR3matrin 3Shares 1 condition
- MYH7myosin heavy chain 7Shares 1 condition
Traits linked to TIA1
The Human Phenotype Ontology lists these as features of the rare conditions TIA1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TIA1 gene: TIA1 cytotoxic granule associated RNA binding protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/tia1
Dante Labs. TIA1 gene: TIA1 cytotoxic granule associated RNA binding protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tia1
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