TRBV20-1 T cell receptor beta variable 20-1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRBV20-1provided by HGNC
Official Full Name: T cell receptor beta variable 20-1provided by HGNC
Primary source: HGNC:HGNC:12196
See related: Ensembl:ENSG00000211747 IMGT/GENE-DB:TRBV20-1; AllianceGenome:HGNC:12196
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: TRBV201; TCRBV2S1; TCRBV20S1
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, Nov 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 (142626727..142627399)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (143983529..143984201)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (142334241..142334913)

Chromosome 7 - NC_000007.14 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?

from the data it was concluded that any relationship between the TCRBV20S1 polymorphism and the predisposition to, or the protection from, type 1 diabetes and multiple scle, is highly unlikely
Title: TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population.
Observational study of gene-disease association. (HuGE Navigator)
Title: TCRBV20S1 and TCRBV3S1 gene segment polymorphisms in systemic sclerosis.
Observational study of genotype prevalence. (HuGE Navigator)
Title: High frequency of the TCRBV20S1 null allele in the Sardinian population.
A single nucleotide polymorphisms (substitution at position 524, resulting in the introduction of a stop codon) was found to have a high allele frequency in the Sardinian population.
Title: High frequency of the TCRBV20S1 null allele in the Sardinian population.

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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

SHGC-58840 (e-PCR)
- UniSTS:94467

SHGC-35337 (e-PCR)
- UniSTS:13828

STS-L48728 (e-PCR)
- UniSTS:45578

RH69087 (e-PCR)
- UniSTS:78634

G65748 (e-PCR)
- UniSTS:166708

D7S2277 (e-PCR)
- UniSTS:153679

RH17643 (e-PCR)
- UniSTS:86369

RH46953 (e-PCR)
- UniSTS:30083

TCRB (e-PCR), detects polymorphism
- UniSTS:37517

G43005 (e-PCR)
- UniSTS:94874

G43006 (e-PCR)
- UniSTS:94875

RH103391 (e-PCR)
- UniSTS:97717

D7S2928 (e-PCR)
- UniSTS:47544

STS-X15505 (e-PCR)
- UniSTS:74448

SGC35671 (e-PCR)
- UniSTS:5074

GDB:1318702 (e-PCR)
- UniSTS:29908

D7S1576 (e-PCR)
- UniSTS:77028

PRSS1 (e-PCR)
- UniSTS:61172

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.