TRAC T cell receptor alpha constant [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRACprovided by HGNC
Official Full Name: T cell receptor alpha constantprovided by HGNC
Primary source: HGNC:HGNC:12029
See related: Ensembl:ENSG00000277734 IMGT/GENE-DB:TRAC; MIM:186880; AllianceGenome:HGNC:12029
Gene type: other
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRA; IMD7; TCRA; TRCA
Summary: T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]
Annotation information: Annotation category: partial on reference assembly
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Genomic context

Location:: 14q11.2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (22547506..22552132)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (16745254..16749884)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23016447..23021075)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Folding of the TCR alpha-chain constant domain Calpha is dependent on alpha-beta heterodimerization.
Title: Dimerization-dependent folding underlies assembly control of the clonotypic αβT cell receptor chains.
Data describe two families with an autosomal recessive inherited immunodeficiency disorder characterized by increased susceptibility to infection and autoimmunity, and apparently caused by a TCRalpha subunit constant gene mutation.
Title: Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: [T cell receptor constant alpha chain gene +1592C/T polymorphism may not be associated with IgA nephropathy].

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
TCR-alpha-beta-positive T-cell deficiency MedGen: C3809332 OMIM: 615387 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11070 (e-PCR)
- UniSTS:13335

G43587 (e-PCR)
- UniSTS:95031

D14S1325 (e-PCR)
- UniSTS:2643

GDB:198197 (e-PCR)
- UniSTS:156048

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in T cell receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in adaptive immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in alpha-beta T cell activation	NAS Non-traceable Author Statement more info	PubMed
involved_in response to bacterium	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of alpha-beta T cell receptor complex	IPI Inferred from Physical Interaction more info	PubMed
part_of alpha-beta T cell receptor complex	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.