Gene
LAT
linker for activation of T cells
- HGNC 18874↗(opens in a new tab)
- Ensembl gene ENSG00000213658↗(opens in a new tab)
- NCBI Gene 27040↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p11.2
- Coordinates
- Chromosome 16: 28,985,052–28,990,784 (GRCh38)
- Exons
- 12 exons across 5.7 kb
- Protein
- 233 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- LAT1
- MANE Select transcript
- ENST00000395456.7NM_001014987.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Severe Combined Immunodeficiency
- Autosomal recessive
Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
Broader groupings
Other Inborn Errors of Immunity
- Immunodeficiency Disease
One of 170 genes linked to it
Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How LAT is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
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 1.7 kb of the gene's 5.7 kb; 702 of those bases code for the protein.
How a genome test reads LAT
1
position in LAT 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 5.7 kb of LAT, introns included, not only the 1.7 kb of exons.
Genes linked to the same conditions
- ADAadenosine deaminaseShares 2 conditions
- AK2adenylate kinase 2Shares 2 conditions
- BCL11BBCL11 transcription factor BShares 2 conditions
- CARD11caspase recruitment domain family member 11Shares 2 conditions
- CARMIL2capping protein regulator and myosin 1 linker 2Shares 2 conditions
- CD247CD247 moleculeShares 2 conditions
- CD3DCD3 delta subunit of T-cell receptor complexShares 2 conditions
- CD3ECD3 epsilon subunit of T-cell receptor complexShares 2 conditions
- CD70CD70 moleculeShares 2 conditions
- CIITAclass II major histocompatibility complex transactivatorShares 2 conditions
- CORO1Acoronin 1AShares 2 conditions
- DCLRE1CDNA cross-link repair 1CShares 2 conditions
Traits linked to LAT
The Human Phenotype Ontology lists these as features of the rare conditions LAT 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.). LAT gene: linker for activation of T cells. Retrieved 16 October 2026, from https://dantelabs.com/genes/lat
Dante Labs. LAT gene: linker for activation of T cells [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lat
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