TRAJ17 T cell receptor alpha joining 17 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRAJ17provided by HGNC
Official Full Name: T cell receptor alpha joining 17provided by HGNC
Primary source: HGNC:HGNC:12045
See related: Ensembl:ENSG00000211872 IMGT/GENE-DB:TRAJ17; AllianceGenome:HGNC:12045
Gene type: other
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (22526844..22526906)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (16724593..16724655)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (22995812..22995874)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study and meta-analysis of intraocular pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

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General gene information

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Markers

SHGC-143450 (e-PCR)
- UniSTS:182784

RH11070 (e-PCR)
- UniSTS:13335

SHGC-171777 (e-PCR)
- UniSTS:182833

SHGC-145547 (e-PCR)
- UniSTS:174642

SHGC-171842 (e-PCR)
- UniSTS:182835

G43587 (e-PCR)
- UniSTS:95031

humtcajc (e-PCR)
- UniSTS:834

D14S1325 (e-PCR)
- UniSTS:2643

D14S283 (e-PCR), detects polymorphism
- UniSTS:30037

GDB:642137 (e-PCR)
- UniSTS:158560

G17820 (e-PCR)
- UniSTS:19053

GDB:198183 (e-PCR)
- UniSTS:156035

GDB:198184 (e-PCR)
- UniSTS:156036

GDB:198186 (e-PCR)
- UniSTS:156038

G69448 (e-PCR)
- UniSTS:229512

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

SHGC-145279 (e-PCR)
- UniSTS:174490

RH70855 (e-PCR)
- UniSTS:18850

G35434 (e-PCR)
- UniSTS:44199

RH18088 (e-PCR)
- UniSTS:34728

D14S50 (e-PCR), detects polymorphism
- UniSTS:19375

GDB:188625 (e-PCR)
- UniSTS:155572

SHGC-171779 (e-PCR)
- UniSTS:185292

STS-X61072 (e-PCR)
- UniSTS:83424

G42940 (e-PCR)
- UniSTS:83425

D14S283 (e-PCR), detects polymorphism
- UniSTS:53734

D14S920 (e-PCR)
- UniSTS:4328

RH93874 (e-PCR)
- UniSTS:87801

GDB:210884 (e-PCR)
- UniSTS:156157

D14S1186 (e-PCR)
- UniSTS:39678

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.