TRBV3-1 T cell receptor beta variable 3-1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRBV3-1provided by HGNC
Official Full Name: T cell receptor beta variable 3-1provided by HGNC
Primary source: HGNC:HGNC:12212
See related: Ensembl:ENSG00000237702 IMGT/GENE-DB:TRBV3-1; AllianceGenome:HGNC:12212
Gene type: other
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TRBV31; TCRBV3S1; TCRBV9S1A1T
Summary: Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Annotation information: Annotation category: partial on reference assembly
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Genomic context

Location:: 7q34

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (142308589..142309048)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (143623672..143624131)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (142008412..142008871)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Polymorphismis of TCRBV3S1 is not associated with unexplained sudden unexpected death in infancy in an Australian cohort.
Title: A polymorphism in a staphylococcal enterotoxin receptor gene (T cell receptor BV3 recombination signal sequence) is not associated with unexplained sudden unexpected death in infancy in an Australian cohort.
Observational study of gene-disease association. (HuGE Navigator)
Title: TCRBV20S1 and TCRBV3S1 gene segment polymorphisms in systemic sclerosis.
polymorphism in Brazilian Caucasoid and Black populations
Title: TCRBV3S1 and TCRBV18 gene segment polymorphisms in Brazilian Caucasoid and Black populations.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

D7S2473 (e-PCR), detects polymorphism
- UniSTS:24065

D7S2473 (e-PCR), detects polymorphism
- UniSTS:25575

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of T cell receptor complex	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor 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.